Get Involved and Make it Happen: February is membership month for BDSRA02/10/2014
To join or renew your 2014 annual membership,
which is $40 per family, go to 2014 Membership Dues
Why Join BDSRA? Because membership is a vital link to others
facing Batten disease, and membership strength is a leading indicator
to policy makers and pharma that Batten disease deserves
attention, support, and funding. Read more about membership here
For questions email email@example.com
January 2014 Newsletter01/15/2014The January 2014 edition of the BDSRA newsletter is now posted. For updates on clinical trials, research, advocacy, board news, and donor gifts, click here: January 2014 Illuminator
Clinical Trial Updates01/05/2014
Three major research investigations in Batten disease continue to seek patients to participate in clinical trials in the U.S. and Europe. Studies led by the Department of Genetic Medicine at Weill Cornell Medical College in New York City, by the University of Rochester Batten Center in Rochester, New York, and by California-based pharmaceutical company BioMarin are now enrolling eligible patients for treatment studies for late infantile CLN2 disease and Juvenile NCL. For details on each study and enrollment criteria, go to: Clinical Trial Updates
Join the BDSRA 2013 Annual Fund12/13/2013
You can double your donaton to the annual fund by making your year-end gift by December 31st, 2013. Generous challenge match pledges of $30,000 have been made to help donors refill Sophie’s piggy bank to help fund a cure for Batten disease. Sophie, a generous and kind second grader, saved her allowance until she could give $20 to BDSRA to honor her brother and sister who have Batten disease.
Read more about Sophie’s story here: 2013 BDSRA Annual Fund.
Click here to donate now and help refill the piggy bank: http://www.bdsra.org/donate/
BDSRA Welcomes New Board Members12/03/2013
The results are in! BDSRA held annual elections in November, 2013, and we are happy to announce the names of our new and returning board members. Returning with us will be Rob Geer and Tracy VanHoutan. We’re happy to welcome David Pearce, Vice President, Chief Operating Officer of Research, Sanford Health, in Sioux Falls, SD, and Barbara Wuebbels, of Phoenix, AZ, Vice President of Patient Advocacy and Medical Affairs for Audentes Therapeutics. Official results were tabulated by the accounting firm Laubie, Karling & Associates. Board nomination ballots were mailed to all current dues paying members of BDSRA. There were 9 candidates for 4 open positions, and terms are for 3 years.
Rob Geer Grand Rapids, MI
Professional/Employment Information: Business Development for Kelly IT Resources
Community Involvement/Service Organizations/Volunteer: I have been on the board for the BDSRA for 3 years serving as 1st Vice President, Head of search for Executive Director, Board selection committee and have assisted with technology, web presence and social media presence. I am also board member for the local University of Michigan Alumni group in Grand Rapids, Chairperson for our church’s finance council and have multiple board positions on a variety of technology groups in Grand Rapids.
David Pearce Sioux Falls, SD
Professional/Employment Information: Vice President, Chief Operating Officer of Research, Sanford Health Director, Sanford Children’s Health Research Center, Sanford Research/USD Professor, Department of Pediatrics, Sanford School of Medicine of the University of South Dakota
Community Involvement/Service Organizations/Volunteer: I have volunteered my time as required with the BDSRA for the last 15 years in a number of ways. I have attended each BDSRA annual conference during this time. I have served on numerous advisory boards related to my employment related activities in research and in local communities in regard youth sports. Sanford Health is a non-for-profit a 501-3c.
Tracy VanHoutan Downers Grove, IL
Professional/Employment Information: Currency / Foreign Exchange Trader, Ronin Capital, LLC.
Community Involvement/Service Organizations/Volunteer: I have focused on fundraising, advocacy, raising the profile of Batten at the federal level, scientific research and developing relationships with regulatory authorities and drug companies. With Noah’s Hope, we have committed over $400,000 to the fight against batten disease in partnership with BDSRA. I have testified before the FDA, NIH, and the Rare Disease Congressional Caucus. I expect these efforts to further BDSRA goals related to funding, support programs and streamlining the path to therapies. We have funded projects including: 2 NCL mouse colonies, biomarkers, worldwide patient database/registry, drug screen assay for NCL therapeutics, a drug repurposing study with possible implications for multiple forms of NCL, BDSRA IT overhaul and preclinical lab work for enzyme therapy which resulted in the current trial for LINCL via Bio-Marin.
Barbara Wuebbels Phoenix, AZ
Professional/Employment Information: Audentes Therapeutics- VP of Patient Advocacy and Medical Affairs.
Community Involvement/Service Organizations/Volunteer: Founding member of the Wellness Community of Central Arizona- a non-profit that provides free counseling and support to patients and families with cancer. Committee along with director was responsible for raising over 1 million per year for operating expenses. Parish council St. Daniel’s Catholic Church. Arizona Biomedical Research Commission-appointed by the Governor to review scientific research requests submitted by researchers at universities and organizations within the state of Arizona.
StemCells, Inc. Announces Results of Long-Term Follow-Up Study in Batten Disease10/22/2013
The Company previously reported post-mortem evidence of engraftment, migration and long-term survival of the HuCNS-SC cells following transplantation and the planned cessation of immunosuppression. The data were based on examination of the brains from three patients who expired from causes related to the underlying disease.
BDSRA Receives Genzyme Patient Advocacy Leadership (PAL) Award09/30/2013
Genzyme Announces Winners of Patient Advocacy Leadership (PAL) Awards
CAMBRIDGE, Mass.–(BUSINESS WIRE)–September 30, 2013
Genzyme, a Sanofi company (EURONEXT: SAN and NYSE: SNY), today announced the recipients of the 2013 Genzyme Patient Advocacy Leadership (PAL) Awards. This global grant program supports outreach programs by non-profit organizations that work on behalf of patients living with lysosomal storage disorders (LSDs), a group of rare, inherited disorders that cause progressive and debilitating health problems.
In its third year, the Genzyme PAL Award program encourages new and innovative approaches to improve disease awareness, patient care support, and education. More than 40 patient organizations representing 25 countries submitted proposals. Proposals were received from the Batten, Gaucher, MPS, Fabry, Pompe, and Niemann-Pick disease communities as well as several other rare disease patient organizations. Eight recipients were chosen and collectively received over $100,000 from Genzyme, to support programs in Chile, China, Denmark, Hungary, the Philippines, the United Kingdom and the United States. The Genzyme PAL Award program supplements Genzyme’s existing grants program and does not replace the contributions made locally each year to support advocacy groups.
“Over the past two years we have been inspired by the depth and reach of the PAL awards recipients and their efforts to strengthen the rare disease patient community,” said Jamie Ring, Genzyme’s Vice President of Global Patient Advocacy and Humanitarian Programs for Rare Diseases. “This year we’re excited to recognize many organizations around the world that are working towards expanding awareness and education, improving access to treatment for patients, and empowering the next generation of physicians.”
An external review committee was again assembled to review applications and select the PAL Award recipients. The committee members included: Patricia Collins, former Chief Development Officer at Clinton Health Access Initiative; Jean F. Campbell, Rare Disease Advocacy Consultant; Erik Tambuyzer, President and Founder, ABConsult; Kimberly Goodrich, CFRE, The Multiple Sclerosis Association of America, Senior Director of Development; and Cara Hesse, Associate Director of Global Patient Advocacy at Genzyme. More information on the Genzyme PAL Awards can be found at: www.genzymeadvocacyawards.com.
Genzyme is pleased to announce the 2013 PAL Award grant recipients below:
UNITED STATES: Batten Disease Support and Research Association (BDSRA)
“Multicultural Clinical Practice Guidelines for Batten Disease”
The BDSRA seeks to improve the diagnostic efficacy and disease management for Batten disease patients by producing and publishing clinical practice guidelines for medical professionals. These guidelines would utilize existing clinical experience and expertise of the Batten Disease Centers of Excellence in the United States, Serbia, and Argentina. Ultimately, these guidelines will be available in multiple languages to support global care. The project will provide physicians with clinical guidelines to inform medical care decisions, advance linkages between LSD Centers of Excellence and community physicians and pediatricians, and provide a multicultural template for LSD clinical practice guidelines derived from known experts in Batten disease.
CHILE: Fundación de Pacientes Lisosomales de Chile (FELCH)
“Healthcare Student Awareness Program” medical student empowerment project
Through this project, FELCH seeks to increase awareness of Lysosomal Storage Diseases in Chile through an education and outreach program among university students. This national educational campaign will inform and empower future healthcare professionals through seminars and materials distributed by patients and physicians knowledgeable about LSDs. By empowering the next generation of medical professionals, FELCH hopes to ultimately improve diagnosis and treatment of Pompe, Gaucher, MPS I, and Fabry diseases.
CHINA: China Dolls Center for Rare Disorders
“Our World: Rare and Real — Traveling Documentary Photography Exhibit”
The Our World Photography Project seeks to raise awareness of rare diseases through a traveling, nationwide photography exhibit featuring individuals living with Lysosomal Storage Disorders. Through this exhibit, China Dolls aims to increase understanding and awareness of the impact LSDs have on individual lives, and to foster policies that protect the basic rights of all individuals living with a rare disease to access medical treatment, education, and employment. The exhibit will tour major city centers including Beijing, Shanghai, Shenzhen, Guangzhou, and Xi’an and will include media outreach throughout the tour.
DENMARK: Gaucher Association Denmark on Behalf of a Collaboration of Six Danish Patient Associations
“Together We Can Be Stronger” Family Conference
Six Danish patient organizations will cohost the first-ever family conference for patients and their families living with metabolic disorders in Denmark. Collectively, these associations focus on: Congenital Disorders of Glycosylation Syndrome, Fabry Disease, Gaucher Disease, MCAD Deficiency, Protein Degradation Defect Diseases, and Wilson Disease. In addition, the collaborative expects to involve other families dealing with rare metabolic disorders that don’t have a patient organization to support their needs. Organizers hope to reduce the sense of isolation for families, engender a greater sense of community, and generate momentum for collective action in the future through this innovative conference.
HUNGARY: Foundation for Patients with Fabry Disease
“Fabry Diagnosis and Monitoring System” Diagnostic Standardization
Through this project, the Foundation for Patients with Fabry Disease seeks to improve access to medical treatment for patients by developing a Fabry Diagnosis and Monitoring System to be utilized throughout the country. Because physical examinations are conducted at many sites nationwide and physicians’ knowledge and experience with Fabry disease can vary widely, the project intends to create a clear, objective examination protocol that will ultimately improve treatment decisions by the government health care agency. After a comprehensive research and development phase, a pilot program will be launched and the project will culminate with a publication, with the ultimate goal of national adoption.
PHILIPPINES: Philippine Society for Orphan Disorders (PSOD)
“I Can Be Like You” Animated Video
Through this PAL project, PSOD will expand its national rare disease awareness campaign through the creation of a first-ever animated film to be used in social media format. This film will be treated as a children’s story highlighting a little girl’s journey to obtain the correct diagnosis and the importance of getting the proper care once the diagnosis has been made. Using this animated format, PSOD will simplify complex medical terms to improve understanding and increase social sharing via the Internet. PSOD hopes to use the film to accelerate their broader awareness and advocacy campaigns to improve access to sustainable treatment for rare disease patients throughout the Philippines.
UNITED KINGDOM: LSD Collaborative
“If you hear hooves it may be a zebra……” Medical Student Empowerment Project
The UK LSD Collaborative — a collaborative of six rare disease patient organizations — seeks to improve diagnosis and treatment of rare diseases in the U.K. by educating and empowering the next generation of health care providers. Together, the organizations of the UK LSD Collaborative represent the Batten, Gaucher, Fabry, MPS, Niemann-Pick, Pompe and Krabbe disease patient communities. Through their PAL project, the Collaborative will partner with 5th year medical students from the Barts London School of Medicine and Dentistry, as well as the student-created London Society for Rare Diseases to support the development of rare disease societies across the London Medical Schools. Other activities include the development of a website, toolkit, and speakers bureau.
UNITED STATES: National Tay-Sachs and Allied Diseases Association (NTSAD)
“Rare Siblings Project” Video Series
This project seeks to create a web based video series designed to support siblings of children affected with life limiting illness, as well as those living with complex and chronic conditions. Specifically, the project will look to support children between the ages of 6 and 18 years of age. Intended outcomes of this project include reducing feelings of isolation often experienced by siblings, provide siblings with a forum for self-expression, provide parents with insights into the sibling perspective, and develop a community of sibling support. Videos will ultimately be promoted using social media channels such as You Tube and Facebook and will be accessible by the broader rare disease community.
About Genzyme, a Sanofi Company
Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years. We accomplish our goals through world-class research and with the compassion and commitment of our employees. With a focus on rare diseases and multiple sclerosis, we are dedicated to making a positive impact on the lives of the patients and families we serve. That goal guides and inspires us every day. Genzyme’s portfolio of transformative therapies, which are marketed in countries around the world, represents groundbreaking and life-saving advances in medicine. As a Sanofi company, Genzyme benefits from the reach and resources of one of the world’s largest pharmaceutical companies, with a shared commitment to improving the lives of patients. Learn more at www.genzyme.com.
Sanofi, a global and diversified healthcare leader, discovers, develops and distributes therapeutic solutions focused on patients’ needs. Sanofi has core strengths in the field of healthcare with seven growth platforms: diabetes solutions, human vaccines, innovative drugs, consumer healthcare, emerging markets, animal health and the new Genzyme. Sanofi is listed in Paris (EURONEXT: SAN) and in New York (NYSE: SNY).
Ingrid Mitchell, 617-768-6699
Copyright Business Wire 2013
BioMarin Pharmaceutical Inc. launches first phase of study in Hamburg, Germany09/24/2013
We applaud BioMarin Pharmaceutical Inc. for the official start of the
Enzyme Replacement Therapy (ERT) trial in Germany. Here is the link for more details about the study: BioMarin doses first patient in CLN-2 study
Contact Janet Nuttall at Jnuttall@bmrn.com for enrollment information.
September issue of our newsletter the IlluminatorCheck out the new edition of BDSRA newsletter to get updates on research, board nominations, donors and the family conference wrap-up
We appreciate and thank our conference sponsors!07/25/2013
Many thanks to all who attended, participated and contributed – it was great to see everyone!
Check back here soon for photos from Nashville and for info about the 2014 conference in Columbus, OH.
$1M in Batten Disease Research Funding Awarded through BDSRA Research Funding Collaborative03/15/2013
BDSRA Has Moved!01/10/2013
The new BDSRA offices opened January 3, 2013. Our fresh new space provides many great opportunities to partner with local universities and research centers. Just five minutes from Downtown Columbus, we look forward to taking advantage of the many resources it has to offer. Some office construction is still underway, but we are fully operational. Our new address is 1175 Dublin Road, Columbus, OH 43215; our current toll-free number remains (800) 448-4570. Come visit us some time!