NTSAD Research Initiative

Research Gains Momentum at the Turn of the Century, 2001-2003

In 2001, the organization rededicated itself to funding cutting-edge scientific and medical research and established the NTSAD Research Initiative. In 2003, NTSAD saw the culmination of several years of hard work as significant movement in the lysosomal storage disease therapeutics arena continued.

• Clinical trials of a substrate inhibitor drug now known as Zavesca®, now owned by Actelion, proceeded for Type I Gaucher disease while other trials got underway in the U.S. and the U.K. for Niemann-Pick Type C, Gaucher Type C and Late Onset Tay-Sachs. Currently FDA approved for use for Gaucher Type I and being prescribed in Europe, this novel drug continues to be tested.
  
• FDA approval of Fabrazyme® enzyme replacement therapy for Fabry disease brought relief for this potentially fatal lysosomal storage disorder causing renal failure, stroke, heart disease and debilitating pain. Fabrazyme is owned by Genzyme.
  
• Aldurazyme® an enzyme replacement therapy for MPS I also owned by Genzyme received FDA approval for the treatment of MPS I by delaying the progression of MPS I in the body systems and organs most affected by the disease.
  
• The number of infants receiving stem cell transplants from umbilical cord blood increased for newborns diagnosed prenatally or soon after birth with Krabbe disease. This complicated process continues to be a viable option for babies with MPS, and is still considered highly experimental for other lysosomal storage diseases.
  
• In early 2003, a group of children affected by Canavan disease were enrolled in a gene therapy trial at the Robert Wood Johnson Medical School Cell and Gene Therapy Center. The patients were being evaluated every three months to track the impact of this delicate procedure.
  
• The first clinical trials of enzyme replacement therapy for Pompe disease began in 2003 for approximately 35 children around the world. Quality of life and physical improvements were quickly seen in some of the children. A second study involving younger infants was about to begin.
  
• While not yet an FDA-approved medication, “Lorenzo’s Oil” continues to show positive impact in pre-symptomatic boys with Adrenoleukodystrophy.