At National Tay-Sachs & Allied Diseases Science Symposium, Leading Neurodegenerative Disease Researchers Present Breakthroughs
New developments in crossing the blood-brain barrier bring human trials closer
BOSTON, MA—April 6, 2011—Breakthroughs in crossing the blood-brain barrier could lead to new treatments for Tay-Sachs, Canavan and other neurodegenerative diseases. The findings were presented Thursday at the National Tay-Sachs & Allied Diseases (NTSAD) Science Symposium by leading researchers working together to find a treatment.
New methods of delivering missing enzyme to the brain show improvement in animal studies. Human trials may begin as soon as next year for Tay-Sachs, one of nearly 100 lysosomal storage diseases.
“Several speakers described inflammation in the brain as a hallmark of all neurodegenerative diseases. Therefore, treatments for Tay-Sachs disease could lend insights to advancing treatments for Alzheimer’s Disease and other diseases affecting the central nervous system, as well as the other way around,” said Dr. Miguel Sena-Esteves, Associate Professor of Neurology at the University of Massachusetts Medical School and the project manager of the Tay-Sachs Gene Therapy Consortium, an international collaboration of scientists committed to translating current gene therapy results into human clinical trials.
In a keynote address, Dr. Marc Patterson of the Mayo Clinic cited the personal and economic burdens borne by the families of the 30 million Americans with rare diseases, and implored physicians to become more knowledgeable about testing sites and available treatments.
“There is no untreatable disease,” he said.
Presenters cited the need for the earliest possible diagnosis, and the need for those affected by rare diseases to participate in natural history studies so doctors can learn more about the natural course of each disease in order to later establish whether any new treatment is indeed effective.
The meeting was organized by the Boston-based patient advocacy group, NTSAD, and supported by educational grants from Shire, Genzyme, Pfizer, Amicus Therapeutics and The Mathew Forbes Romer Foundation.
Kevin Romer, NTSAD’s Board President, noted that NTSAD is playing an increasing influential role in driving research toward treatments and cures through partnerships, organizing science meetings and its annual Request for Proposal grant process.
In addition to the 85 science symposium attendees, nearly 200 patients and families gathered for the 33rd annual NTSAD Family Conference to learn about the latest research developments, share experiences and gain knowledge to care for their affected loved ones.
Funds raised by NTSAD families and supporters are advancing medical research that promises to benefit multiple disorders. NTSAD's funding for the Tay-Sachs Gene Therapy Consortium's early-stage research led to a $3.5 million NIH grant for developing gene therapies.
NTSAD's major research funders and affiliates include The Cameron & Hayden Lord Foundation, Cure Tay-Sachs Foundation, The Mathew Forbes Romer Foundation, NTSAD-New York area chapter and Sophia Pesotchinsky.
NTSAD leads the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases while supporting affected families and individuals to foster quality of life. Founded in 1957, Boston-based NTSAD was a pioneer in the development of community education about Tay-Sachs disease, carrier screening programs, and laboratory quality control programs. Today more than two million people have been screened for Tay-Sachs disease. Numerous Tay-Sachs carriers have been identified and thousands of healthy children have been born to high-risk couples. For more information, go to www.NTSAD.org.
Susan R. Kahn
National Tay-Sachs & Allied Diseases Association