Latest News

CLN2 Enzyme Replacement Trial Opens First US Site


We are happy to announce that the first United States site for the BioMarin CLN2 enzyme replacement study has been listed on Dr. Emily De los Reyes at Nationwide Children’s Hospital in Columbus and her co-PI, Dr. Lenore Leowald are currently assessing children to begin the study in December. To learn more about the official guidance, and criteria, go to VanHoutan, Lance Johnston, researchers from universities all over the world and BioMarin have made this important advancement for families and children with our utmost thanks!

The Fall 2014 BDSRA Newsletter is here


For conference highlights, board news, personal stories and research updates click here Fall 2014 BDSRA Newsletter

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

ourboys 5k/10k


ourboys 5k/10k
April 12, 2014
Harris Road Middle School
1251 Patriot Plantation Blvd
Concord NC 28027

Online Registration and more info at

Run the Creek 5K


Run the Creek 5k
March 22, 2014
9:00 am
Highland Creek Elementary
7242 Highland Creek Parkway
Charlotte NC 28269

Online Registration and more info at

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

The Lysosomal Disease Network’s 10th Annual WORLDSymposiumâ„¢ 2014

Please join us Monday, February 10, 2014 – Friday, February 14, 2014

This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest  discoveries in the management and treatment of lysosomal diseases, and the clinical investigation of these advances.  This meeting will help researchers and clinicians to better manage and understand diagnostic options for patients with lysosomal diseases; to identify areas requiring additional basic and clinical research, public policy and regulatory attention; and to identify and explore the latest findings in the natural history of lysosomal diseases.

Co-Presented by the Lysosomal Disease Network and the United States National Institutes of Health Office of Rare Diseases Research–National Center for Advancing Translational Science (NCATS), the National Institute of Neurological Disorders and Stroke (NINDS), and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

Held at:
Manchester Grand Hyatt San Diego
One Market Place
San Diego, CA 92101 USA
(619) 232-1234
(619) 233-6464 (fax)

Contact: David Erickson, 612-624-7975,

A block of sleeping rooms is available at a discounted rate of $239 single, $239 double; plus taxes. Please make your reservation directly with the hotel prior to the cut-off date and refer to the course by name (Lysosomal Disease Network’s 10th Annual WORLDSymposiumâ„¢ 2014 to receive the discounted rate. Reservations will be accepted on space and rate availability.

Cut-off date:  Friday, January 10, 2014.  After this date, room rates may be available at prevailing rates.