NTSAD Research Initiative

The Pace Picks Up, 2003-2005

The broader genetic disease community and the lysosomal storage disease community in particular continue the trend toward greater collaboration at various levels. NTSAD participates in and often pioneers these therapeutic efforts in a highly visible way, working with the allied disease lay advocacy organizations and their leadership to bring about new efforts such as the Lysosomal Storage Disease Research Consortium and GOLD-Global Organisation for Lysosomal Diseases, while also participating in important dialogues with academic and medical institutions, with biotech companies focusing on treatment for these difficult disorders, and with the federal government for increased awareness and funding.

  • Zavesca clinical trials for Late Onset Tay-Sachs disease continued with 30 participants at two study sites, as well as other trials for the small molecule drug with Niemann-Pick Type C and Gaucher disease.
  • First clinical trial for juvenile Tay-Sachs and Sandhoff began in Toronto, Canada, while protocol developed for an unprecedented clinical study in infants in the U.S.
  • In several academic laboratories around the world, scientists study the impact of varying novel approaches to conquer the blood-brain barrier on larger animal models of the LSDs, including canine MPS and feline gangliosidoses.
  • The LSD Research Consortium, an unparalleled collaborative effort of patient organizations, was established in July 2004. The Consortium created a partner program with the National Institute of Neurological Disease and Stroke and the Office of Rare Diseases at the National Institutes of Health to encourage translational research for this specific group of rare diseases.

What was said at the October 2002 Annual World Symposium on Lysosomal Storage Disorders in Baltimore continues to ring true:

Until recently, the basic biology and possibilities of treatment for lysosomal storage diseases (LSDs) were poorly understood and/or underdeveloped. The recent successes in the treatment of these diseases have rekindled an interest in expanding the knowledge base about their basic and clinical aspects. Understanding these mechanisms of disease causation will continue to lead to additional treatment options for LSDs for affected patients.