A grant from UnitedHealthcare Children’s Foundation (UHCCF) provides financial relief for families who have children with medical needs not covered or not fully covered by their commercial health benefit plan. UHCCF aims to fill the gap between what medical services/items your child needs and what your commercial health benefit plan covers.

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By: Lance Johnston, Executive Director

This is a summary of the recent INCL research meeting held March 5, 2011 in St Louis, Missouri, organized and hosted by BDSRA.

Attending:

• Sandra Hofmann, PhD, University of Texas Southwestern
• Mark Sands, PhD, Washington University in St Louis
• Eric & Christine Thelen, Hayden’s Hope Batten Foundation
• Sharon King, Taylor’s Tale Foundation
• Lance Johnston, Executive Director, BDSRA
• Kim Zellmer, Esq., BDSRA Vice President (by telephone)

Purpose of meeting was to update everyone on current status of research into Infantile Batten disease and how to advance to human trials.

1. Sandra Hofmann did update on her research into ERT. ERT shows that it can extend life span of mice. Mice treated at birth do the best and their liver and spleen showed significantly less storage material vs. untreated. Soon ready to be moved to a pharma company. Need to have a large company be able to produce enzyme quantity useable for humans. Because of lack of funding from NIH, etc., she will be giving up mouse colony and likely one person out of her lab.
2. Mark Sands updated on latest information on his work with INCL mice. CNS-directed gene therapy by itself shows significant biochemical, histological and clinical improvements. Bone marrow transplant (BMT) by itself provides no benefit. However, the two treatments together show great synergy and reveal that life span of mice can be doubled. Most significant improvement in life span and rotorod performance is with mice treated immediately after birth. Unknown if BMT is providing systemic enzyme. Likely have to do an ERT to peripheral body. Dr. Sands is confident that this is a good therapy and needs to go to human trials.
3. Discussion ensued regarding how to get to human trial:
   1. Results must be published. Dr. Sands believes submission for publication will be in a few weeks.
   2. After publication, need to make face-to-face meeting with FDA to discuss toxicology studies. Currently expecting to have to do nonhuman primates (monkeys). Maybe able to do a different large animal, i.e., rabbit or dog. Also have to make certain FDA accepts his mouse data as small animal toxicology study. Cannot move further until tox studies are completed.
4. FDA – help or roadblock? Discussion about how to approach FDA and get them to be help and not hinderance. Kim Zellmer will talk to Drs. Landis and Tagle to gather any insight and, perhaps, support. It was agreed that BDSRA and family foundation reps need to accompany Dr. Sands to FDA. Anybody we can get should be a help.
5. It is determined that there is a need for identification of biomarkers and a natural history in order to have clinical end points.

Beyond Batten Disease Foundation: Creating Plans for Drug Discovery in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)

By: Danielle M Kerkovich, PhD, Principal Scientist of the Beyond Batten Disease Foundation

“Drug-able” targets in Juvenile Batten or other diseases are defined as a key molecules involved in cellular functions disrupted by disease. Since 1989, JNCL investigators have published over 400 peer-reviewed journal articles on the possible functions of CLN3 protein and the cellular and brain pathology resulting from CLN3 mutations. While the function of CLN3 protein is still a “black box” in many ways, we do know a lot about the cellular functions disrupted by disease. We have targets; vulnerable cell populations, accumulated storage material to remove, dysfunctional pathways to resolve, and ultimately, a protein to replace or repair.

We also know that everything is works “up to a point.” For several years, a child with JNCL appears healthy so if something could tilt the balance in the early stages of the disease, that may be all it takes to make a difference. If we could bring the function of JNCL brain cell pathways back, closer to normal, we could drastically improve the lives of children with JNCL and their families.

On February 6-8, 2011, the Beyond Batten Disease Foundation (BBDF), together with BDSRA and NCL-Stiftung, our Germany-based colleagues sponsored 20 JNCL investigators from around the world to attend the 5th Drug Discovery in Neurodegeneration: An Intensive Course on Translating Research into Drugs in San Diego CA. The purpose of the course was to teach basic scientists working on neurodegeneration principles in drug discovery, to provide a platform for the exchange of ideas, knowledge, and resources between biologists in academia and medicinal chemists in industry, and to stimulate collaboration that focuses and empowers each member of translation pipeline to excel in their areas of strength.

The course was immediately followed by a ‘think tank’-style one-day conference focused solely on drug discovery for JNCL. Researchers from academia who had just been primed with current information on the principles of drug discovery met face-to-face with industry-trained leaders in drug discovery from the federal funding sector, the pharmaceutical industry, and newly formed academic hybrids. To prepare for the day-long ‘brainstorming session’, these drug discovery experts had been introduced to JNCL via a three-part webinar series presented by experts in Batten disease research**

Together investigators and drug discovery experts discussed JNCL-specific drug targets, prioritized which targets could have the greatest impact on health, and suggested strategies for developing effective screens and how to streamline current processes and work together to find treatments for JNCL. This was the first time JNCL investigators, clinicians, and industry experts gathered together to create a drug discovery action plan to apply emerging findings in JNCL basic science to the science of drug discovery. As one of our JNCL scientists put it, it’s “like speed-dating for scientists”, getting together people who wouldn’t otherwise meet to stimulate collaborations and speed the path to drug discovery.

Today the BBDF is maintaining the momentum of the course and conference by working with various experts in Batten disease, drug discovery, public policy, and rare disease to explore the development of collaborative projects between drug discovery centers across North America. For more information, please see the upcoming BBDF May newsletter.

* The Alzheimer’s Drug Discovery Foundation, which developed and hosted the 5th Drug Discovery in Neurodegeneration: An Intensive Course on Translating Research into Drugs is the only public charity solely dedicated to rapidly accelerating the discovery and development of drugs to prevent, treat and cure AD. The ADDF expanded their efforts in 2006 to share drug discovery education and awareness with academic researchers studying PD, MS and ALS. BBDF is proud and thankful for our partnership with ADDF, which adds Lysosomal Storage Disease to this list.

** To obtain access to pre-meeting, course or conference materials or updates on this and other BBDF-sponsored scientific activity, please contact Danielle M Kerkovich, PhD, Principal Scientist of the Beyond Batten Disease Foundation at dkerkovich@beyondbatten.org or 202/812-6462.

Rozzy Finn from the Laboratory of Dr. David Pearce at the Sanford Children’s Health Research Center in Sioux Falls, SD shares information on GluR as a therapeutic target for INCL

Below is a link to the power point presentation, in PDF format.

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David M. Bedwell, Ph.D. from the Department of Microbiology at Gregory Fleming James Cystic Fibrosis Research Center at the University of Alabama at Birmingham recently gave a presentation at the 2010 NIH Conference in Bethesda, MD.

Below is a link to his Power Point Presentation, in PDF format. Enjoy.

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The Batten Disease Support and Research Association (BDSRA) is pleased to announce that limited funds are available to promote research and/or assist in a promising research project/s primarily for, but not limited to, development of novel therapeutic approaches for treatment of NCL. The BDSRA specifically seeks proposals aiming to:

• Identify bioactive compounds and characterize cell-based therapeutic strategies
• Utilize , proteomic and genomic approaches to improve understanding of NCL
• Explore the neurobiology of NCL disease to determine the molecular pathogenesis in the CNS
• Gain an improved understanding of the cell biology of the NCL proteins/enzymes
• Characterize the substrate and/or storage material
• Identify biomarkers
• Identify the function of the CLN3 transmembrane protein

Proposals will be considered for all forms of NCL, with emphasis on CLN1, CLN2, and CLN3.

Multiyear proposals are generally discouraged unless there are extenuating circumstances or the study/project requires it.

All grant award(s) must be used to cover direct costs of the project/ investigation and may not be used for indirect or overhead costs. All awards, including Postdoctoral fellowships, will be paid in six (6) month increments based on progress reports submitted for review.

In the event of any changes to this request for proposals, such changes will be announced on the BDSRA website - http://www.bdsra.org.

Proposal Guidelines:

• There is a 5-page limit to all submitted proposals, exclusive of references.
• The body of the proposal should contain the following: Specific aims, background, preliminary results pertinent to the specific investigation, experimental design, anticipated results and their significance. Relevant references should be listed following the body of the proposal (not included in the 5-page limit).
• Please detail available resources and collaborators on the proposed project.
• Please provide a short budget and your current funding, including USPHS, NIH or NINDS grant(s) and private support and funding requested but not received to date. Supplementary support for funded NIH projects will not be supported. Also, please include information relevant to any matching funds that may be available through your university/institution affiliation or other funding sources.
• Please provide your current curriculum vitae or NIH-style biosketch. Be sure to include current email and telephone contact information.

Submission of proposals:

All proposals must be submitted electronically (e-mail to bdsra1@bdsra.org), as a single PDF that is identified by the investigator’s last name.

Applications will be peer reviewed based upon the quality of the proposed science, the probability of achieving the specific aims proposed, and the likelihood of securing federal funding or other funding for continued research.

As a condition of award, the project/study must begin within six months of date of award and investigator must provide assurance that a report will be made to BDSRA within 12 months of the award date with a short interim report after six months.

Recipients of awards from BDSRA, in addition to providing progress reports, are required to provide to BDSRA copies of any publications abstracts, etc. resulting in whole or in part, directly or indirectly, from research funded by the award. Appropriate acknowledgment of BDSRA funding must be noted in such publications. In addition, if a recipient's research that has been funded by the BDSRA results in any new discovery or invention that may provide benefit to individuals with Neuronal Ceroid Lipofuscinosis, the BDSRA shall retain the right to use, as it deems appropriate, such discovery or invention for non-commercial research purposes. Furthermore, the recipient and/or the recipient's institution shall immediately notify the BDSRA, if BDSRA funds have supported research that results in the recipient and/or the recipient's institution seeking to make any commercial gain, patent application or secure any other proprietary rights to legally protect any discovery or invention resulting, in whole or in part, directly or indirectly, from the research. The BDSRA shall be entitled to an equitable share of any patent, proprietary right and/or commercial gain that accrue to the recipient and/or the recipient's institution as a result, either in whole or in part, directly or indirectly, of BDSRA funding. The BDSRA's equitable share shall be based upon the level of contribution the BDSRA funding had on the research.

BDSRA requires models, cells and mice developed with BDSRA funds be openly shared with the scientific community upon description of their development or use in a peer-reviewed publication.

Note: BDSRA participates in two tissue repositories. Various tissues, primarily brain, are available for research. Contact BDSRA for information.

Proposals must be submitted electronically no later than 11:59PM, May 15, 2011.

Inquiries may be directed to Lance W. Johnston, Executive Director, BDSRA, at 1-800-448-4570 or 740-927-4298. Email address: bdsra1@bdsra.org

Oregon Health & Science University (OHSU) Doernbecher Children’s Hospital has begun a Phase Ib clinical trial sponsored by StemCells, Inc. for Neuronal Ceroid Lipofuscinosis (NCL, also often referred to as Batten disease).

NCL is a rare and fatal lysosomal storage disorder that afflicts infants and young children. The disorder is caused by genetic mutations. Children who inherit the defective gene are unable to produce enough of an enzyme that processes cellular waste substances that accumulate in a part of cells known as the lysosome. As a result of the deficient enzyme, cellular waste builds up and eventually certain brain cells cannot function and die. Children with NCL appear healthy when born, but as their brain cells die, they begin to miss developmental milestones, suffer seizures and progressively lose motor skills, sight and mental capacity. There currently is no effective treatment for the disease.

The Phase Ib trial is designed to assess the safety of purified human central nervous system stem cell (HuCNS-SC®) transplantation in patients with NCL. In addition to safety, the trial will also investigate if HuCNS-SC cells impact the progression of the disease. Patients, age 6 months to 6 years, with either the infantile or late infantile forms of NCL, may be eligible for enrollment.

All patients will be transplanted with HuCNS-SC cells directly into the brain via a neurosurgical procedure, and will then undergo immunosuppression for nine months. Following transplantation, patients will be evaluated regularly over a 12-month period in order to monitor and evaluate the safety and tolerability of the HuCNS-SC cells, the surgery, and the immunosuppression. The study sponsor, StemCells, Inc., is committed to follow the effects of this therapy long-term, and families will be asked to participate in a separate four-year observational study that will be initiated at the conclusion of this trial.

Read full release below.

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Edited by Sara Mole, PhD with contributions by others, it is the latest textbook on Batten disease/NCL. Cost is $144.94 US dollars. See 20% off order form.

• The definitive text on the Neuronal Ceroid Lipofuscinoses
• An updated, comprehensive volume on this devastating group of disorders
• Provides valuable advice on diagnosis, care, and new treatments
• Written by international authorities in the field

The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available.

Access the order form and flyer below.

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A newly developed test could screen would-be parents for hundreds of different disease genes, to make sure they are not passed on to any future children.

The test's makers say it should cost less than $400 and that routinely offering it to prospective parents could someday eliminate many deadly childhood diseases.

"We definitely want it to be pre-pregnancy. We do want it to be couples," says Stephen Kingsmore, a physician-researcher at Children's Mercy Hospital in Kansas City, Mo., who led the team that developed this new test. "I think it's going to be a personal decision, whether a couple wants to be tested."

he inspiration for this new test came from Craig and Charlotte Benson, of Austin, Texas. In 2008, their daughter Christiane was diagnosed with Batten disease, a rare neurodegenerative disorder that currently has no cure. It progresses from vision loss to memory problems and seizures, and eventually death.

"Both her mom and I carry a gene mutation, a single gene mutation," explains Craig Benson. He and his wife didn't know they were carriers before they had children — indeed, they'd never heard of Batten disease.

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HOUSTON -- Texas Children's Hospital today officially opened the Jan and Dan Duncan Neurological Research Institute (NRI), the world's first basic research institute dedicated to childhood neurological diseases.

Located in the heart of the Texas Medical Center in a uniquely designed 13-floor research tower, the NRI aims to increase the pace of discoveries by pioneering a multidisciplinary research approach to the complex challenge of understanding brain development and function.

The NRI is directed by Dr. Huda Y. Zoghbi, a Howard Hughes Medical Institute (HHMI) investigator and one of the world's most renowned neurogeneticists. Joining her are 15 investigators and their research teams of 130 scientists recruited from around the world in diverse disciplines such as genetics, neurobiology, physics, mathematics, bioinformatics and behavioral psychology. NRI researchers will work in specially designed "collaboratories" --- open labs that facilitate the free exchange of ideas, information and resources.

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(Columbus, OH) Bethesda, Maryland was the site for the November conference entitled: "Translational Research Priorities for Infantile (CLN1) and Late Infantile (CLN2) Forms of Batten Disease”. This conference was organized by David Pearce and Beverly Davidson from the University of Iowa. Speakers included those currently working on INCL and LINCL to present their most recent work. In addition, researchers who are not currently working on these disorders were present and made presentations of their research that could potentially impact or augment current INCL/LINCL research activities. As the title of the workshop indicates, the primary goal of the workshop was to bring researchers together to expedite new approaches and research towards developing therapeutic strategies for these devastating disorders."

The conference was supported by National Institute of Neurological Disorders and Stroke, Batten Disease Support & Research Association , Blake’s Purpose, Drew’s Hope Research Foundation, Fight for Nicolas, Hope 4 Bridget, Jasper Against Batten, Mary Payton’s Miracle Foundation, Noah’s Hope, and Our Promise to Nicholas Foundation.

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Dr. Emily De Los Reyes from The Ohio State University and Children's Hospital in Columbus, Ohio highlights the symptoms that help identify a diagnosis of Batten disease.

In this short clip Dr. De Los Reyes discusses the initial concerns, or 'milestones' as she calls them, in which children begin to digress in areas like speech, and motor skills. A loss of sight is also a indicator in many forms of Batten disease.

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NORD is partnering with the Pew Research Center to conduct an informal study of how people with rare diseases obtain and share information about their diseases and available resources.

We are asking you to tell your members about this study and to encourage them to complete the short survey to ensure that as many rare disease organizations as possible are represented in this survey.

You are probably familiar with the Pew Internet and American Life Project, which has published several widely publicized studies of how Americans use the Internet. Since the Internet has particular implications for people with rare diseases, Pew and NORD feel it is important to document ways in which the Internet is used by this particular population.

It takes just a few minutes to complete the survey, and it is not necessary to answer every question. Also, responses will be partly anecdotal: Respondents will be invited to elaborate on their own experiences if they choose to do so.

This project is being done in conjunction with Rare Disease Day, and the results will be released to the press—and to all of you—in February, just before Rare Disease Day. Because Rare Disease Day is all about education and raising awareness, NORD is very happy to partner with Pew in this project designed to educate all Americans about specific rare diseases and the challenges associated with having a rare disease.

Please post the link to the survey on your website or distribute it in other ways to your members. The survey will be available for just three weeks, so it is important to distribute this information as soon as possible. Please also feel free to post the link on Facebook, Twitter or any other communications channels that you use. NORD will be doing the same.

We appreciate your help in this project and—even more—your support for Rare Disease Day and its goal of raising awareness across our nation and around the world of rare diseases as an important public health concern.

Link to online survey below.

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Detailed Description:

Participation in this study will involve screening assessments, surgery to implant HuCNS-SC, medication to suppress immune system and a series of follow-up assessments.

Eligibility

Ages Eligible for Study: 6 Months to 6 Years

Genders Eligible for Study: Both

Accepts Healthy Volunteers: No

Criteria

Inclusion Criteria:

• Age 6 months to 6 years
• Male or female
• Clinical diagnosis of Infantile neuronal ceroid lipofuscinosis or late infantile neuronal ceroid lipofuscinosis
• * CLN1 or CLN2 mutation

Exclusion Criteria:

• Previously received an organ, tissue or bone marrow transplantation
• Previously participated in any gene or cell therapy study
• Infection with hepatitis virus, cytomegalovirus, Epstein-Barr virus, or Human Immunodeficiency Virus (HIV)
• Current or prior cancer
• Bleeding disorder
• Unable to have an MRI scan

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01238315

Contacts
Contact: Stephen Huhn, MD 650-475-3100 stephen.huhn@stemcellsinc.com

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Detailed Description:

The investigators propose to assess a new drug to treat children with a form of Batten Disease called Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL). These children are born with genetic changes called mutations in their CLN2 gene that result in the inability of the brain to properly recycle proteins. The recycling failure leads to death of the nerve cells in the brain and progressive loss of brain function. Children with Batten disease are normal at birth but by age 2 to 4 have motor and vision problems which progress rapidly to death at age approximately 10 years old. There are no therapies available to treat the disease.

The experimental gene transfer procedure treatment the investigators propose consists of augmenting the abnormal gene by a good copy. A virus is used to deliver the good gene to the nerve cells. Since the disease is due to an abnormal CLN2 gene, the aim of this study is to add a normal copy of the CLN2 gene to the brain of affected children to try to reverse death of cells in the brain. Previously the investigators have used a virus called adeno-associated virus 2 (AAV2) as the gene delivery system. That study showed that viral delivery of the gene was safe and showed small, but significant benefits to the recipient. We now propose to use a slightly different virus called AAVrh.10 as a gene delivery system and use 2 different doses of the virus. Children with Batten disease will get the drug injected into the brain and will receive extensive neurological assessment at intervals to determine if the transfer slows the rate of progress of the disease.

The primary aims of the study are: (1) to assess the hypothesis that direct administration of AAVrh.10CUhCLN2 to the brain of children with LINCL can be achieved safely and with minimal toxicity; and (2) to evaluate the hypothesis that direct administration of AAVrh.10CUhCLN2 to the brain of children with LINCL will slow down or halt progression of the disease as assessed by neurological rating scales and quantitative MRI (primary variables).

The investigators have recently completed a study in which the normal copy of the gene was surgically delivered to 12 locations in the brain in 10 children with LINCL. The children were assessed by a number of neurological and imaging parameters prior to and after gene transfer. The data demonstrated that the gene transfer was well tolerated and had a small but significant impact on the progression of the disease and suggested that higher doses and a better delivery system may provide greater benefit. The previous study used the viral gene transfer vector adeno-associated virus type 2 (AAV2) at a dose of 2,000,000,000,000 molecules of the drug (2 x 10^12 particle units). The investigators now propose a very similar study with delivery of the identical payload with a slightly different viral gene delivery system based on the virus AAVrh.10. In animal models of LINCL, this new delivery system was much more effective giving better spread of the gene product and improving survival greatly.

Contacts
Contact: Charleen Hollmann, PhD 646.962.2672 chollman@med.cornell.edu
Contact: Mary Yeotsas, BA 646.962.4563 mey2003@med.cornell.edu

Locations
United States, New York
Weill Cornell Medical College
New York, New York, United States, 10021

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Gene Therapy is a large component of many clinical trial and research efforts to find a cure for Batten disease. A brief summary of Gene Therapy is below.

Gene therapy is an experimental medical procedure that attempts to correct a genetic mutation (missing or changed genes) so that properly functioning genes are restored to cells. When gene therapy works, the correct instructions for building proteins (chemicals that direct and control chemical reactions in the body) are once again available to cells, and the body returns to normal or healthier function.

Scientists first began discussing the possibility of this method to cure diseases in the 1960s. In 1970, American doctor Stanfield Rogers at Oak Ridge National Laboratory in Tennessee tried to use gene therapy to treat two sisters who had a genetic disorder called argininemia. With this genetic disorder, the body lacks an enzyme (a type of protein) called arginase. People with this disorder can have seizures and mental impairment. Rogers tried to treat the sisters by using a virus to carry the healthy gene into their cells. In this case, the gene therapy was unsuccessful.

In 1977, scientists were able to use gene therapy techniques to deliver a gene into the cells of mammals. American doctor W. French Anderson performed one of the first studies of gene therapy in humans in 1990 on a four-year-old girl who had a rare genetic immune system disorder called severe combined immunodeficiency (SCID). The immune system fights off infections from bacteria and viruses, and the disorder made it difficult for her body to stay healthy. Anderson and his team genetically altered her white blood cells and then returned them to her body. The new white blood cells strengthened the girl’s immune system and made it possible for her to survive.

Another setback to gene therapy occurred in 1999. An eighteen-year-old patient named Jesse Gelsinger was involved in a gene therapy trial for a genetic disease called ornithine transcarboxylase deficiency (OTCD). This rare disease prevents the liver from breaking down ammonia, which can build up in the body and become toxic. Gelsinger died from organ failure four days after starting treatment. Researchers believe his immune system reacted to the virus that carried the new gene into his cells.

In 2000, French researcher Alain Fischer was able to cure children of a similar kind of immune system disorder. Fischer used retroviruses as gene carriers. Retroviruses are a type of virus that uses ribonucleic acid (RNA) as its genetic material, instead of DNA. Retroviruses produce an enzyme (a protein that controls a biochemical reaction) that builds DNA upon a strand of RNA. The most well known of these retroviruses is the human immunodeficiency virus (HIV), the virus responsible for acquired immune deficiency syndrome (AIDS). Fischer inserted a retrovirus carrying the normal gene into the children’s blood stem cells. Several months later, two of the children in the trial developed a disease similar to leukemia (a type of cancer that starts in the cells that make blood cells). As a result, the U.S. Food and Drug Administration (FDA) halted the use of retroviruses in the United States.

Although research in this field has moved slowly, it still moved forward. In 2003, the first officially licensed gene therapy was available in China. Several types of gene therapy are waiting for approval from the U.S. Food and Drug Administration.

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New clinical research center will capitalize on remarkable discoveries by testing the efficacy of potential new treatments for pediatric neurological ailments and diseases

HOUSTON, Nov. 5, 2010 /PRNewswire-USNewswire/ -- The Blue Bird Circle announced today that it will provide grants totaling $1 million to Texas Children's Hospital within an anticipated five to 10 year period to establish The Blue Bird Circle Clinical Research Center. This new center will support clinical trials designed to test potential treatments for pediatric neurological ailments including degenerative diseases, such as Batten disease, as well as common neurological ailments including epilepsy, autism, Fragile X and Angelman syndrome, among others.

Read full article at link below

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StemCells, Inc. (Nasdaq:STEM) announced today that it has initiated a second clinical trial of its HuCNS-SC ® product candidate (purified human neural stem cells) in neuronal ceroid lipofuscinosis (NCL, also often referred to as Batten disease), a fatal neurodegenerative disorder in children. The trial is designed to evaluate the safety and preliminary efficacy of the cells in patients with either infantile or late infantile NCL. The trial will enroll six patients with less advanced stages of the disease than those who participated in the Company's first NCL trial. Like the first NCL trial, this second trial is being conducted at Oregon Health & Science University (OHSU) Doernbecher Children's Hospital, a leading medical center with nationally recognized programs in pediatric neurology and neurosurgery.

Read More at the link below.

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On Oct. 5, President Obama signed legislation to enable people with rare diseases to participate in clinical trials without losing eligibility for public health care benefits. The Improving Access to Clinical Trials Act had passed the Senate on Aug. 5 and the House on Sept. 23. The Cystic Fibrosis Foundation first identified this barrier to clinical research, and worked with leadership of the CF Congressional Caucus to seek a solution. NORD and other patient advocacy groups joined the Foundation in this important effort.

In a victory for rare disease patients and families, the U.S. House of Representatives on Sept. 23 passed the Improving Access to Clinical Trials Act (I-ACT). The legislation, which had been passed a few weeks earlier by the Senate, now goes to the White House where President Obama is expected to sign it.

“This legislation will support the development of new therapies by removing a barrier that might keep patients from participating in important research studies,” said NORD President and CEO Peter L. Saltonstall.

The legislation changes the eligibility requirements for Social Security Supplemental Income (SSI) and Medicaid so that compensation of up to $2,000 for participating in clinical trials won’t be considered income in SSI and Medicaid determinations. NORD and several of its Member Organizations had joined the Cystic Fibrosis Foundation and other patient advocacy groups in supporting the legislation. More Details

Biswas, Sunita, PhD – Massachusetts General Hospital – Postdoctoral Fellowship
First year report for second year funding - $40,000 – CLN3
“Generation of Human iPS cells for study of NCL disease biology”

Macauley, Shannon L., PhD – Washington Univ in St Louis – Postdoctoral Fellowship
First year report for second year funding - $30,000 – CLN1
“Activated Astrocytes as Therapeutic Targets in INCL”
Funding provided by Hayden’s Batten Disease Foundation

Xu, Su – Center for Advanced Biotechnology and Medicine – Studentship
“Intrathecal Enzyme Replacement Therapy for LINCL” - $31,500 – CLN2
Funding provided by Noah’s Hope Foundation

Hofmann, Sandra L., PhD – University of Texas Southwestern – Cooper, Jonathan D, PhD, Kings College London - $79,654 – CLN1
Enzyme Replacement Therapy for Palmitoyl Protein Thioesterase Deficiency”
Funding provided by Taylor’s Tale Foundation

Meng, Yu, PhD – (Peter Lobel, PhD- Center for Advanced Biotechnology and Medicine) Postdoctoral Fellowship - $40,000 – CLN2
“Evaluation of Peripheral Enzyme Replacement Therapy for LINCL and Development of Inductible Transgenic Model TPP1 Model”
Partial funding provided Fight 4 Nicholas Foundation

Geoghegan, James C., PhD (Beverly Davidson, PhD) University of Iowa – Potsdoctoral Fellowship - $26,800 – CLN2
“The molecular basis for AAV-targeting of TPP1 deficient brains”
Funding provided by Our Promise to Nicholas Foundation

Chan, Chun-Hung, PhD – Sandford Research/USD - $20,000 – CLN3
“Plasma Metabolomics in Batten Disease”

Palmer, David, PhD – Lincoln University, NZ
Tammen, Immke, PhD – Univ. of Sydney, Australia - $25,000 – CLN6
“Genetic characterization of a regulatory mutation in CLN6 South Hampshire sheep”

Staropoli, John, MD, PhD – Massachusetts General Hospital
Postdoctoral Fellowship - $30,000 – All NCLs
“Development of a clinical registry and biorepository for NCL disorders”

BDSRA wishes to thank our “PARTNER” foundations in helping to fund the promising research this year.

Baylor College of Medicine awarded $14.85 million grant to complete neurological research center at Texas Children’s Hospital

HOUSTON - (July 28, 2010) - Neurological research at Baylor College of Medicine (BCM) and Texas Children’s Hospital is getting a big boost in the form of a $14.85 million grant from the National Institutes of Health (NIH) to complete two floors of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital.

“More than 300 million children suffer from a neurological deficit, but the percentage of funding for neurological research is small relative to the magnitude and societal impact of these disorders,” said Dr. Huda Zoghbi, professor in the departments of molecular and human genetics, pediatrics, neurology and neuroscience at BCM and director of the Jan and Dan Duncan NRI.

“The grant will fund the interior build-out of specific floors in the NRI, a multidisciplinary research facility for pediatric neurological diseases such as autism, epilepsy, Batten disease, cerebral palsy, and Rett and Angelman syndromes,” said Zoghbi, who is also an investigator with the Howard Hughes Medical Institute.

In addition to creating office and laboratory space, the funding will be used to build space for Nuclear Magnetic Resonance equipment that will help researchers identify metabolic fingerprints of different disorders. The NRI is scheduled to open later this year.

“We are very grateful to receive this support from the NIH to complete space to house – under one roof – BCM investigators committed to understanding the pathogenesis of childhood neuropsychiatric disorders. The build-out of additional floors in the NRI will also allow us to recruit new faculty with expertise currently lacking in the Texas Medical Center, to support interdisciplinary approaches and enhance collaborations,” said Zoghbi. “BCM and Texas Children’s have a rich partnership and dedication to research which is demonstrated in the building of the new NRI.”

“This will be the first facility in the U.S. entirely dedicated to researching pediatric cognitive developmental and neurological disorders, and developing treatments for them,” said Dr. John Swann, co-director of the NRI and scientific director of the Gordon and Mary Cain Pediatric Neurology Research Foundation Laboratories at Texas Children’s.

The NRI will ultimately bring together hundreds of researchers across multiple disciplines dedicated to understanding the unique issues of a child’s brain development and function during health and disease in the hope of bringing promising new treatments to those afflicted with neurological disorders.

The Recovery Act Limited Competition: Extramural Research Facilities Improvement Program (C06) was a unique, one-time solicitation available to domestic institutions to construct new, or remodel existing, research facilities. The goal of the grant – available in amounts ranging between $2 million and $15 million – is to facilitate and enhance the conduct of Public Health Service-supported biomedical or behavioral research. This is achieved by supporting the costs of improving non-federal basic research and clinical research to meet the biomedical or behavioral research, research training or research support needs of an institution. The National Center for Research Resources at NIH oversees and administers these grants.

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About Baylor College of Medicine

Baylor College of Medicine (www.bcm.edu) in Houston is recognized as a premier academic health science center and is known for excellence in education, research and patient care. It is the only private medical school in the greater southwest and is ranked as one of the top 25 medical schools for research in U.S. News & World Report. BCM is listed 13th among all U.S. medical schools for National Institutes of Health funding, and No. 2 in the nation in federal funding for research and development in the biological sciences at universities and colleges by the National Science Foundation. Located in the Texas Medical Center, BCM has affiliations with eight teaching hospitals, each known for medical excellence. Currently, BCM trains more than 3,000 medical, graduate, nurse anesthesia, and physician assistant students, as well as residents and post-doctoral fellows. BCM is also home to the Baylor Clinic, an adult clinical practice that includes advanced technologies for faster, more accurate diagnosis and treatment, access to the latest clinical trials and discoveries, and groundbreaking healthcare based on proven research. Follow Baylor College of Medicine on facebook (http://www.facebook.com/BaylorCollegeOfMedicine) and twitter (http://twitter.com/BCMHouston).

About Texas Children’s Hospital

Texas Children's Hospital is committed to a community of healthy children by providing the finest pediatric patient care, education and research. Renowned worldwide for its expertise and breakthrough developments in clinical care and research, Texas Children's is nationally ranked in all ten subspecialties in U.S.News & World Report's list of America's Best Children's Hospitals. Texas Children's also operates the nation's largest primary pediatric care network, with more than 40 offices throughout the greater Houston community. Texas Children's has embarked on a $1.5 billion expansion, Vision 2010, which includes the Jan and Dan Duncan Neurological Research Institute, a comprehensive obstetrics facility focusing on high-risk births and a community hospital in suburban West Houston. For more information on Texas Children's Hospital, go to www.texaschildrens.org. Get the latest news from Texas Children’s Hospital by visiting the online newsroom and on Twitter at twitter.com/texaschildrens.

A US Senate Appropriation bill has been submitted including language supporting two of the Campaign’s goals. Specifically, the Bill supports the creation of new guidances which could improve the scientifically sound use of surrogate endpoints and new clinical study designs and analysis. The Senate Bill also includes an appropriation for the Food and Drug Administration to hire new staff to fulfill these requirements.

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The White House and Congress have emphasized that, while some aspects of the new health care reform law will take up to four years to implement, others—including elimination of lifetime insurance caps—will take effect this year. On April 1, President Obama said that it “ will take about four years to implement this entire plan, because we’ve got to do it responsibly, we need to get it right. But there’s also a set of reforms that will take effect this year. So I just want to…I want everybody to understand what’s going to happen this year….Tens of thousands of uninsured Americans with preexisting conditions, and parents whose children have a preexisting condition, will finally be able to purchase the coverage that they need. That happens this year….Here’s what else happens: Insurance companies won’t be able to drop people’s coverage when they get sick; or place lifetime limits or restrictive annual limits on the amount of care they can receive.”

Visitors to the White House Health Reform website’s Frequently Asked Questions page may read the following in response to the question, “What consumer protections will I get this year?”

“Beginning in September 2010, insurers will be prohibited from placing lifetime limits on what they will pay for your medical care, and they can only apply restricted annual benefit limits. Insurers will no longer be able to arbitrarily cancel your insurance policy when you get sick, except in cases of fraud. Insurance companies will be prohibited from denying coverage to children with pre-existing conditions. This applies to all new and existing employer plans.”

However, the effective date for these “immediate” reforms, found on page 22 of the 906-page bill, is ambiguous and leaves room for interpretation that could push back the implementation date for many Americans.

NORD and other members of the Raise the Caps Coalition want to be sure these aspects of health care reform are implemented as promised and are concerned that some insurers may be interpreting the language differently regarding the implementation date. For that reason, NORD and more than 90 other patient groups, including many NORD Member Organizations, sent a letter to Health and Human Services Secretary Kathleen Sebelius on May 7, urging her to clarify that the reforms identified by the White House and Congress as immediate will be implemented in September. Read the letter to Kathleen Sebelius.

Reprinted with permission of NORD.

WASHINGTON, DC – June 3, 2010 – With genetic testing becoming increasingly pervasive in medical care and our daily lives, three of the most prominent organizations in genetics—the Genetics and Public Policy Center at Johns Hopkins University, the National Coalition for Health Professional Education in Genetics, and Genetic Alliance—have teamed up to produce educational materials about the Genetic Information Nondiscrimination Act (GINA), a landmark federal law that protects individuals from the misuse of genetic information in health insurance and employment.

Enacted in 2008 after 13 years of debate in Congress, GINA limits health insurers from using a person’s genetic information to set eligibility requirements, or establish premium or contribution amounts. The law also prohibits employers from using genetic information in decisions about hiring, firing, job assignments or promotions.

“Almost every day, our center is asked for more detailed information about what GINA means,” said Joan Scott, director of the Genetics and Public Policy Center. “These targeted materials will go a long way towards answering the questions that still exist, paving the way for successful, long-term implementation of this important law.”

The user-friendly materials will help health-care providers and members of the public understand their rights and responsibilities under the law and provide essential information about its details. The documents are also clear about what GINA doesn’t cover.

The public-oriented materials—including an interactive website, “GINA & You” information sheet, and slide set for advocacy organizations—are available, at http://www.GINAHelp.org, in the Genetic Alliance Resource Repository, and on Genetic Alliance’s website, http://www.geneticalliance.org. The website also includes a history of GINA’s long struggle and passage.

“The public has waited a long time for these protections, and by providing this information as a resource we are helping individuals become informed consumers of genetic services,” said Sharon Terry, president and CEO of Genetic Alliance.

The materials for health-care providers include background documents, a discussion guide suggesting how and when to talk about GINA with patients, a teaching slide set, and case studies that describe how the law works in a variety of real-world, clinical settings. These materials are available on the website for the National Coalition for Health Professional Education in Genetics (NCHPEG), at http://www.nchpeg.org.

“We’ve heard many questions already from health-care providers about the specifics of GINA,” said Joseph McInerney, NCHPEG’s executive director. “Especially as genetic testing becomes more common and the value of family history more apparent, there’s a real need for these materials to reassure providers and patients alike that GINA supports excellent clinical care.”

The Genetics and Public Policy Center (GPPC), part of the Johns Hopkins Berman Institute of Bioethics, will have all of the materials on its website, at http://www.dnapolicy.org. The GPPC’s site also includes FAQs and other fact sheets about GINA aimed at a general audience.

Development of the materials was supported by a grant from The Pew Charitable Trusts.

Additional information:

Genetic Alliance: http://www.geneticalliance.org
Genetic Alliance is a national, nonprofit health advocacy organization based in Washington, DC committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities. When GINA was signed into law, the Alliance chaired the Coalition for Genetic Fairness, a multi-stakeholder coalition of over 500 organizations committed to passing federal genetic nondiscrimination legislation.

National Coalition for Health Professional Education in Genetics: http://www.nchpeg.org
NCHPEG is a Maryland-based nonprofit organization whose mission is to promote genetics education for all health professionals. NCHPEG’s membership represents a broad range of professional societies, advocacy groups, corporate entities, and government agencies dedicated to the integration of genetically based health care into mainstream practice.

Genetics and Public Policy Center: http://www.dnapolicy.org
The Genetics and Public Policy Center in the Berman Institute of Bioethics at Johns Hopkins University was created to help policymakers, the press, and the public understand and respond to the challenges and opportunities of genetic medicine and it potential to transform global public health.

About Genetic Alliance
Genetic Alliance transforms health through genetics, promoting an environment of openness centered on the health of individuals, families, and communities. Genetic Alliance brings together diverse stakeholders that create novel partnerships in advocacy; integrates individual, family, and community perspectives to improve health systems; and revolutionizes access to information to enable translation of research into services and individualized decision making. For more information about Genetic Alliance, visit http://www.geneticalliance.org.

By the end of the year researchers at the University of Iowa will likely be one step closer to treating a very rare disorder called Batten Disease. It's an inherited disease that affects children. There's no cure and it's always fatal. Encouraging studies are bringing hope to families throughout the country and, in particular, to a family in Waterloo. Listen to the radio interview in the link below.

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Human beings have about 40,000 genes. Hard as it is to believe, sometimes a defect in a single gene can lead to devastating consequences. This is the case of a rare childhood genetic disorder known as Batten Disease, which currently has no treatment and is inevitably fatal. But researchers are making breakthroughs in the understanding of Batten Disease, finding knowledge that may someday lead to treatments and cures...

Read full article at the below link

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We note with sadness the passing of Leena Peltonen, M.D., Ph.D. (1952-2010), a leader in human medical genetics from Finland whose work lead to the discovery of at least two dozen disease genes, including CLN1, the gene responsible for the infantile form of Batten Disease. A retrospective on her life and work can be found at

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PALO ALTO, Calif., April 21, 2010 - StemCells, Inc. (NASDAQ: STEM) announced today that it has submitted a protocol to the FDA for initiation of a second clinical trial of its proprietary HuCNS-SC human neural stem cells in neuronal ceroid lipofuscinosis (NCL), which is also often referred to as Batten disease. NCL is a genetic disorder characterized by the absence of a critical enzyme, which leads to the loss of neurons and the eventual death of the patient. The Company completed a Phase I clinical trial in NCL in January 2009 and reported the results to the FDA in September 2009.

"Our first NCL trial was focused primarily on safety, and our data showed that the cells, the immunosuppression regimen and the procedure were all well tolerated," stated Stephen Huhn, MD, FACS, FAAP, Vice President and Head of the CNS program at StemCells, Inc. "This positive safety profile encourages us to advance our clinical program in NCL, and this second trial will place an increased emphasis on the measurement of clinical benefit. We have shown that our HuCNS-SC cells produce the enzyme missing in NCL, so our strategy is to transplant our cells and have them provide enough enzyme to keep the patient's own neurons intact and functioning. We believe that demonstrating benefit will depend on how many neurons are alive at the time of the transplant, so unlike our first trial, which enrolled patients with few neurons left to protect, this second trial is designed to enroll patients who have less neuronal degeneration and cognitive impairment."

The proposed new trial is designed to further assess the safety of HuCNS-SC cells in NCL, while also examining the ability of the cells to affect the progression of the disease. The Company plans to enroll six patients with infantile and late infantile NCL. Because intervention prior to the final stages of the disease will likely be key to providing a therapeutic benefit, the Company plans to enroll patients with less brain atrophy than those enrolled in its first trial. Under the proposed protocol, all patients would be transplanted with HuCNS-SC cells and immunosuppressed for nine months. The patients would also be evaluated and assessed at regular intervals over the course of 12 months following transplantation. As the Company intends to follow the effects of this therapy long-term, a separate four-year observational study would be initiated at the conclusion of this trial. Upon FDA authorization of the trial protocol, the Company will proceed with site selection and seek the necessary Institutional Review Board approval to initiate the trial.

About Neuronal Ceroid Lipofuscinosis (Batten Disease)
Neuronal ceroid lipofuscinosis (NCL) is a fatal neurodegenerative disorder that afflicts infants and young children. The disorder, often referred to as Batten disease, is caused by genetic mutations, and children who inherit the defective gene are unable to produce enough of an enzyme that processes cellular waste substances that accumulate in a part of cells known as the lysosome. Without the enzyme, the cellular waste builds up, and eventually the cells cannot function and die. Children with NCL appear healthy when born, but as their brain cells die, they begin to suffer seizures and progressively lose motor skills, sight and mental capacity. Eventually, they become blind, bedridden and unable to communicate or function independently. There currently is no effective treatment for the disease. The infantile and late infantile forms of NCL are caused by different genetic mutations. As the names imply, the two forms begin to afflict patients at different stages of infancy, but both have similar disease progression and outcomes.

About HuCNS-SC Cells
StemCells' lead product candidate, HuCNS-SC cells, is a highly purified composition of human neural stem cells that are expanded and stored as banks of cells. The Company's preclinical research has shown that HuCNS-SC cells can be directly transplanted in the central nervous system. The transplanted cells are able to engraft, migrate, differentiate into neurons and glial cells, and possess the ability to survive for as long as one year with no sign of tumor formation or adverse effects. These findings show that HuCNS-SC cells, when transplanted, behave like normal stem cells, suggesting the possibility of a continual replenishment of normal human neural cells.

In addition to its clinical development of HuCNS-SC cells in NCL, the Company is currently conducting a Phase I trial using these cells as a potential treatment for Pelizaeus-Merzbacher Disease ( PMD), a fatal myelination disorder in children. HuCNS-SC cells are also in preclinical development for other central nervous system disorders, including retinal degenerative diseases, such as age-related macular degeneration and retinitis pigmentosa, and spinal cord injury.

About StemCells, Inc.
StemCells, Inc. is engaged in the research, development, and commercialization of stem cell therapeutics and enabling technologies for use in stem cell-based research and drug discovery. In its cellular medicine programs, StemCells is targeting diseases of the central nervous system and liver. StemCells' lead product candidate, HuCNS-SC cells (purified human neural stem cells), is in clinical development for the treatment of two fatal neurodegenerative disorders that primarily affect young children. StemCells also markets specialty cell culture products under the SC Proven - brand, and is developing stem cell-based assay platforms for use in pharmaceutical research, drug discovery and development. The Company has exclusive rights to approximately 55 issued or allowed U.S. patents and over 200 granted or allowed non-U.S. patents. Further information about StemCells is available at www.stemcellsinc.com.

Apart from statements of historical fact, the text of this press release constitutes forward-looking statements within the meaning of the Securities Act of 1933, as amended, and the Securities Exchange Act of 1934, as amended, and is subject to the safe harbors created therein. These statements include, but are not limited to, statements regarding the success of the Phase I clinical trial in NCL, the safety and tolerability of the HuCNS-SC cells, the surgical procedure and the immunosuppression, the Company's plans to pursue future clinical development of HuCNS-SC cells as a potential treatment for infantile and late infantile NCL, the potential for HuCNS-SC cells to produce the missing enzyme in NCL and keep the patient's own neurons intact and functioning, the potential for the Company's therapies to treat NCL and other neurodegenerative diseases, the future business operations of the Company, the prospects associated with conducting future clinical trials for NCL, the potential for its cell-based therapeutics to treat diseases or disorders, and its ability to conduct clinical trials as well as its research and product development efforts. These forward-looking statements speak only as of the date of this news release. The Company does not undertake to update any of these forward-looking statements to reflect events or circumstances that occur after the date hereof. Such statements reflect management's current views and are based on certain assumptions that may or may not ultimately prove valid. The Company's actual results may vary materially from those contemplated in such forward-looking statements due to risks and uncertainties to which the Company is subject, including the fact that additional trials will be required to confirm the safety and demonstrate the efficacy of the Company's HuCNS-SC cells for the treatment of NCL or any other disease; uncertainty as to whether the FDA or other applicable regulatory agencies will permit the Company to continue clinical testing in NCL, PMD or in future clinical trials of proposed therapies for other diseases or conditions given the novel and unproven nature of the Company's technologies; uncertainties about the design of this and other future clinical trials and whether the Company will receive the necessary support of a clinical trial site and its institutional review board to pursue this and other future clinical trials in NCL, PMD or in proposed therapies for other diseases or conditions; uncertainties regarding the Company's ability to commercialize a therapeutic product and its ability to successfully compete with other products on the market; uncertainties regarding the Company's ability to obtain the increased capital resources needed to continue its current and planned research and development operations, including such operations of the company for non-therapeutic applications, and to conduct the research, preclinical development and clinical trials necessary for regulatory approvals; uncertainty as to whether HuCNS-SC and any products that may be generated in the future in the Company's cell-based programs will prove safe and clinically effective and not cause tumors or other adverse side effects; uncertainties regarding the Company's manufacturing capabilities given its increasing preclinical and clinical commitments; and the increased risks associated with commercializing future cell-based therapeutics, including the potential for product liability claims; and other factors that are described under the heading "Risk Factors" disclosed in Part I, Item 1A in the Company's Annual Report on Form 10-K for the year ended December 31, 2009.

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CONTACT: StemCells, Inc.
Megan Meloni
650-475-3100, Ext. 105
irpr@stemcellsinc.com
or
Tim Brons
Vida Communication, Inc.
415-675-7402

SOURCE: StemCells, Inc.

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THe 2010 Request for Proposal is now available. Submitted proposals must be postmarked no later than 11:59PM , May 15, 2010. Emailed proposals will NOT be accepted. Inquiries may be directed to Lance W. Johnston, Executive Director, BDSRA, at 1-800-448-4570 or 740-927-4298. Email address: bdsra1@bdsra.org.

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Michael J. Astrue, Commissioner of Social Security, today announced that the agency is adding 38 more conditions to its list of Compassionate Allowances. This is the first expansion since the original list of 50 conditions - 25 rare diseases and 25 cancers - was announced in October 2008. The new conditions range from adult brain disorders to rare diseases that primarily affect children. The complete list of the new Compassionate Allowance conditions is attached.

"The addition of these new conditions expands the scope of Compassionate Allowances to a broader subgroup of conditions like early-onset Alzheimer's disease," Commissioner Astrue said. "The expansion we are announcing today means tens of thousands of Americans with devastating disabilities will now get approved for benefits in a matter of days rather than months and years."

Compassionate Allowances are a way of quickly identifying diseases and other medical conditions that clearly qualify for Social Security and Supplemental Security Income disability benefits. It allows the agency to electronically target and make speedy decisions for the most obviously disabled individuals. In developing the expanded list of conditions, Social Security held public hearings and worked closely with the National Institutes of Health, the Alzheimer's Association, the National Organization for Rare Disorders, and other groups.

"The diagnosis of Alzheimer's indicates significant cognitive impairment that interferes with daily living activities, including the ability to work," said Harry Johns, President and CEO of the Alzheimer's Association. "Now, individuals who are dealing with the enormous challenges of Alzheimer's won't also have to endure the financial and emotional toll of a long disability decision process."

"This truly innovative program will provide invaluable assistance and support to patients and families coping with severely disabling rare diseases," said Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD). "On behalf of those patients and families, I want to thank Commissioner Astrue and his enthusiastic team for creating and now expanding a program that will have a direct impact on the quality of life of thousands of individuals."

"The initiative not only assists those whose applications are quickly processed, but also assists those whose applications need more time and attention from SSA adjudicators," said Marty Ford, Co-Chair, Social Security Task Force, Consortium for Citizens with Disabilities. "We are pleased to see today's expansion and look forward to working with Commissioner Astrue on further expansion of this decision-making tool and other ways to expedite determinations and decisions for disability claims."

"We will continue to hold hearings and look for other diseases and conditions that can be added to our list of Compassionate Allowances," Commissioner Astrue said. "There can be no higher priority than getting disability benefits quickly to those Americans with these severe and life-threatening conditions."

Social Security will begin electronically identifying these 38 new conditions March 1.

For more information about the agency's Compassionate Allowances initiative, go to www.socialsecurity.gov/compassionateallowances.

New Compassionate Allowance Conditions
1.Alstrom Syndrome
2.Amegakaryocytic Thrombocytopenia
3.Ataxia Spinocerebellar
4.Ataxia Telangiectasia
5.Batten Disease
6.Bilateral Retinoblastoma
7.Cri du Chat Syndrome
8.Degos Disease
9.Early-Onset Alzheimer's Disease
10.Edwards Syndrome
11.Fibrodysplasia Ossificans Progressiva
12.Fukuyama Congenital Muscular Dystrophy
13.Glutaric Acidemia Type II
14.Hemophagocytic Lymphohistiocytosis (HLH), Familial Type
15.Hurler Syndrome, Type IH
16.Hunter Syndrome, Type II
17.Idiopathic Pulmonary Fibrosis
18.Junctional Epidermolysis Bullosa, Lethal Type
19.Late Infantile Neuronal Ceroid Lipofuscinoses
20.Leigh's Disease
21.Maple Syrup Urine Disease
22.Merosin Deficient Congenital Muscular Dystrophy
23.Mixed Dementia
24.Mucosal Malignant Melanoma
25.Neonatal Adrenoleukodystrophy
26.Neuronal Ceroid Lipofuscinoses, Infantile Type
27.Niemann-Pick Type C
28.Patau Syndrome
29.Primary Progressive Aphasia
30.Progressive Multifocal Leukoencephalopathy
31.Sanfilippo Syndrome
32.Subacute Sclerosis Panencephalitis
33.Tay Sachs Disease
34.Thanatophoric Dysplasia, Type 1
35.Ullrich Congenital Muscular Dystrophy
36.Walker Warburg Syndrome
37.Wolman Disease
38.Zellweger Syndrome


SSA Press Office 440 Altmeyer Building 6401 Security Blvd. Baltimore, MD 21235 410-965-8904 FAX 410-966-9973

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The National Institute of Neurological Disorders and Stroke (NINDS) announced that four new members have joined its National Advisory Neurological Disorders and Stroke Council. The council serves as the principal advisory body to NINDS regarding the Institute�s research program planning and priorities.

"I am delighted to welcome these distinguished new appointees to the advisory council," said NINDS Director Story Landis, Ph.D. "They include a world-renowned stroke investigator and leader in thrombolytic therapy, a specialist in pediatric neurology and neonatal brain disorders, a neurologist and director of multi-disciplinary research in evidence-based treatment, and a long-time advocate for neurological research who helps families affected by serious diseases."

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The Board of Directors of the Batten Disease Support and Research Association is pleased to announce that it has approved a $400,000 award to the Batten Disease Diagnostic and Clinical Research Center at the University of Rochester for a clinical trial of a drug for Juvenile Batten Disease. The drug, Mycophenolate Mofetil, also known as CellCept, is an immunosuppressant used to prevent rejection of transplanted organs in children. In preliminary studies, mice affected by Batten Disease demonstrated improved motor skills when treated with the drug.

The total cost of the trial is $1.1 million. The research team, under the direction of Dr. Frederick Marshall and Dr. Jonathan Mink, is working to raise the additional $700,000 required to begin the study. BDSRA will provide updated information as it becomes available.

NIH Director Francis S. Collins, M.D., Ph.D., today announced the approval of the first 13 human embryonic stem cell (hESC) lines for use in NIH-funded research under the NIH Guidelines for Human Stem Cell Research adopted in July 2009.

"I am happy to say that we now have human embryonic stem cell lines eligible for use by our research community under our new stem cell policy," Dr. Collins said. "In accordance with the guidelines, these stem cell lines were derived from embryos that were donated under ethically sound informed consent processes. More lines are under review now, and we anticipate continuing to expand this list of responsibly derived lines eligible for NIH funding."

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StemCells, Inc. (NASDAQ: STEM) today provided an update on the ongoing clinical development program of its proprietary HuCNS-SC� product candidate (purified human neural stem cells) for neuronal ceroid lipofuscinosis (NCL), often referred to as Batten disease.

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The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia. The Rare Diseases Clinical Research Consortia and a Data Management Coordinating Center (DMCC) will be awarded a total of just over $117 million over the next five years. The research conducted with the new funding will explore the natural history, epidemiology, diagnosis, and treatment of more than 95 rare diseases.

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The paper shows that distinct compartments of neurons (specifically the long fibre-like processes called axons and points of connection known as synapses) are particularly vulnerable in the NCLs. However, our understanding of how and why these parts of neurons break down during the early stage of the disease remains poor. We have shown that there are distinct protein changes which occur during the early stages of axonal and synaptic breakdown, providing a protein "fingerprint" of the process. We have also identified two specific proteins which may have the potential for use as biomarker proteins, reporting on the underlying status of axon and synapse pathology by examining their levels in easily-accessible tissues such as muscle. This study highlights the need for further research investigating ways of targeting and protecting axons and synapses in the NCLs and also provides a new approach to study and monitor axon and synapse pathology in living individuals without having to take samples of the nervous system.

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The blood brain barrier is generally considered an obstacle to delivering therapies from the bloodstream to the brain. However, University of Iowa researchers have discovered a way to turn the blood vessels surrounding brain cells into a production and delivery system for getting therapeutic molecules directly into brain cells.

Please click on the files below to read the entire press release from the University of Iowa and the scientific research paper describing the scientific advancement from Dr. Beverly Davidson.

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The U.S. Food and Drug Administration finalized new regulations Wednesday designed to provide broader access to experimental drugs for seriously ill people who have exhausted all other commercially available treatments.

The new rules, which were posted on the FDA's Web site Wednesday, mostly clarify regulations explaining how patients can receive drugs in development outside of a clinical trial, and set standards for when drug companies or researchers can charge for the treatments.

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StemCells, Inc. (NASDAQ: STEM) today announced the publication of preclinical data demonstrating for the first time that transplantation of its proprietary, purified human neural stem cells delays the loss of motor function in a mouse model of infantile neuronal ceroid lipofuscinosis (NCL).

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You can now follow Dr. Jon Cooper and his laboratory (Batten Disease/Pediatric Storage Disorders) on Twitter and Facebook. This is a great way to stay informed about what is happening in the lab and the latest research that Dr. Cooper is undertaking.


To follow PSDL on Facebook, go to:
PSDL Facebook Page

To follow PSDL on Twitter, please go to:
Twitter.com/Batten_PSDL

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The 12th International Congress on Neuronal Ceroid Lipofuscinoses (NCL) was held in Hamburg, Germany from June 3-6, 2009. The International Congress only meets once every 2 years. This meeting gives researchers an opportunity to gather and share their research findings on NCL with their colleagues and peers.

The Abstract Summary Book is available for download. We have included it here in PDF format.

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PALO ALTO, Calif., June 8, 2009--

StemCells, Inc. (NASDAQ: STEM) announced today positive results from the first Phase I clinical trial of its proprietary HuCNS-SC product candidate (purified human neural stem cells), including demonstration of a favorable safety profile along with evidence of engraftment and long-term survival of the HuCNS-SC cells.

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Starting in 2006, doctors at Oregon Health & Science University opened the brains of six severely ill children and injected special stem cells derived from human fetuses, the first such surgery known.

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An experimental stem-cell treatment developed by StemCells of Palo Alto has shown no dangerous side effects after being injected into six children with a rare and as-yet always fatal brain disorder, the company said Monday.

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IMPORTANT:
THE DEADLINE FOR RFPs HAS BEEN EXTENDED TO MAY 23, 2009 AT 11:59PM EST.

There is a PDF version and a Microsoft Word version. BDSRA is committed to reviewing and helping fund advancements in the treatment and prevention of Batten disease.

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Finally, after 180 years, we may be able to do something about Juvenile Batten disease. Please, read on . . .

A $1.2 million grant from the National Institutes of Health will bolster University of Rochester experts' research and care efforts for children suffering Batten disease, a rare neurological disorder that erupts without warning, stealing kids' sight, crippling their cognitive and motor capacities, and ultimately, taking their lives.

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The Ethics of Medical Research on Children : NPR's "All Things Considered" , October 31, 2006. Sometime in the next few weeks, a surgeon in Portland , Ore., will drill a series of small holes in a young child's brain and inject neural stem cells. The child has a rare brain disease that is usually fatal before puberty. The hope is that the cells will halt the progression of the disease.

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Hear the audio version w/interviews or read the Health & Science article which aired on Tuesday, June 20, 2006. In what may be an unprecedented collaboration, a rare and as yet incurable illness has brought together two unlikely communities: parents of children and owners of dogs. The two groups are linked by the fatal illness known as Batten disease.

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