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2013 BDSRA Annual Report


Read about research strategy, family stories, grant awards and how donors make a difference to carry out the mission of BDSRA here

International Partners Advance Batten Disease Research Targets


BDSRA, in collaboration with international and family foundation partners,
has announced grants totaling $408,000 to advance research in Batten disease.


 International Funding Partners Advance Batten Disease Research Targets  

COLUMBUS, OHIO (April 24, 2014)  The Batten Disease Support and Research Association (BDSRA), in collaboration with international and family foundation  partners, has announced grants totaling $408,000 to advance the development of treatments and cures for Batten disease.

Co-funders BDSRA-Australia, the Batten Disease Family Association of the United Kingdom, Noah’s Hope, and Hope 4 Bridget joined with BDSRA to support projects that span the United States, the United Kingdom, Australia, and Germany.   Investigations to identify drug targets, drug discovery, and expand a patient registry have been funded through awards to six researchers:  David Palmer, PhD, Lincoln University of New Zealand; Stephan Storch, PhD, University Medical Center Hamburg-Eppendorf, Germany; Angela Schulz, PhD, University Medical Center Hamburg-Eppendorf, Germany; Jonathan Cooper, PhD, King’s College, London; Jeffery Gerst, PhD, Weizmann Institute of Science, Israel; and Erika Augustine, MD, the University of Rochester.

The DEM-CHILD NCL Patient Database project led by Schulz is the first worldwide attempt to collect and analyze clinical data of all NCL forms through a consortium of NCL clinicians from 11 countries.  Expanding a worldwide patient registry for Batten disease is a BDSRA strategic funding priority because of its necessity to understand the disease, identify novel biomarkers, advance clinical trials, and develop effective therapies.

With an emphasis on cutting-edge scientific inquiries to build on existing investigations in gene therapy, enzyme replacement, and drug discovery, BDSRA continues to identify and fund research with the highest potential to formulate treatments.

BDSRA and its co-funders select grant recipients through a scientific merit review process in which proposals are evaluated according to standards that screen significance of the project to advance NCL research, strategy to accomplish objectives, and potential for translation to treatments and cures.

As a rare, fatal, inherited disorder of the nervous system, Batten disease has no known treatment or cure. Batten disease is the most common, inherited neurodegenerative disorder found in children, and is also known as a group of disorders called Neuronal Ceroid Lipofuscinosis (NCL).  There are multiple forms of the disease, which is most commonly diagnosed between infancy and school age.

BDSRA is the major support and research organization in North America for Batten disease.  The first research grant from BDSRA was awarded in 1992, and since then more than $7.4 million has been allocated toward the search for treatments and cures.  The organization is the largest provider globally for Batten disease patient and family support, education, research, and awareness programs.


Grants and Patient Registry to Advance Batten Disease Research


Read more about the DEM-CHILD project that is a funding priority for BDSRA to expand a critical patient registry and details about the research projects and grants awarded for the 2013 RFP program.  Go to 2013 RFP Grants

April 2014 Newsletter

BDSRA announces global research grants and programs in April Newsletter.  In collaboration with international and family foundation partners, BDSRA has awarded research grants for 2013 that span the U.S., Australia, Germany, and the United Kingdom.  Proposals were funded that focused on identifying drug targets and drug discovery, developing a patient registry, and expanding projects in the basic biology of Batten disease.  To read more details as well asnews about programs, conference, and families, go to April Newsletter

Get Involved and Make it Happen: February is membership month for BDSRA


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 tkirby@bdsra.org

January 2014 Newsletter

The 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 Updates


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 Fund


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/

Sophie’s family:
(left to right) Eric, Chris, Danielle, McKenna, Sophie and Tori

BDSRA Welcomes New Board Members


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 Disease

Human Clinical Data Encompasses Five Years of Post-Transplant Safety
NEWARK, Calif., Oct. 21, 2013 (GLOBE NEWSWIRE) – StemCells, Inc.(Nasdaq:STEM) announced today the results of a four-year observation study in patients with neuronal ceroid lipofuscinosis (NCL), also referred to as Batten disease, who had been transplanted with the Company’s proprietary HuCNS-SC® cells (purified human neural stem cells) in the initial Phase I study. Key results include long-term evidence of safety, up to five years post transplantation, for the surgical transplantation of the HuCNS-SC cells into multiple sites in the brain and at doses of up to one billion cells. The study results represent the first, and thus far only, multi-year data set following transplantation of neural stem cells into human subjects, and supports the feasibility of the Company’s approach in multiple neurological disorders. The data will be presented today by Nathan Selden, MD, PhD, FACS, FAAP, who was co-principal investigator in the studies, at the Congressof Neurological Surgeons Annual Meeting in San Francisco, California.”The NCL study enrolled patients suffering from a severe progressive neurological disorder and the study’s outcome shows that there were no long-term safety or tolerability issues associated with the cells, the immunosuppression regimen or the surgical procedure over the five years following transplantation,” said Dr. Selden, Campagna Chair of Pediatric Neurosurgery at Doernbecher Children’s Hospital and Oregon Health & Science University (OHSU), and incoming President of theCongress of Neurological Surgeons. “Our assessment of the patients’ cognitive and neurological function revealed stable scores in some tests, but the clinical outcomes were generally consistent with the expected course of impairment associated with this neurodegenerative disease. However, three of the six patients transplanted with HuCNS-SC cells have now survived more than five years post-transplant, and in a progressive neurodegenerative disorder, it is noteworthy that each have stable quality-of-life measures.”Stephen Huhn, MD, FACS, FAAP, Vice President, CNS Clinical Research atStemCells, Inc., added, “This was the first clinical test of our HuCNS-SC cells. We are very pleased to have accrued significant multi-year human safety and tolerability data for neural stem cell transplantation into the brain, unmatched in terms of both cell dose and duration of follow up thus far in the field. We are very grateful to all the investigators at OHSU and the families of the patients who were part of this ground-breaking study.”Six patients were enrolled in the Company’s Phase I clinical study in Batten disease. All six were transplanted with HuCNS-SC cells and followed for twelve months after transplantation. Five patients completed the Phase I study and subsequently enrolled in a four-year, long-term observational study, with three of the five surviving to the end of the four-year study. The long-term clinical data appear to be consistent with the natural history of the disease and conclusions about impacting the disease course cannot be made in an open-label trial. The reported adverse events are consistent with the underlying disease and there have been no safety concerns attributed to the HuCNS-SC cells. Magnetic resonance imaging scans of the brain show progressive atrophy consistent with the patient’s neuropsychological performance. Quality-of-life measures remained stable across all three surviving patients.

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.