NTSAD Research Initiative

2006 NTSAD’s Golden Anniversary, 50 years and beyond

Today research goes beyond the grant-making process and encompasses a comprehensive knowledge of global activities that may someday impact people dealing with genetic diseases of the central nervous system. NTSAD attains that knowledge base through its Scientific Advisory Committee and its Research Evaluation Subcommittee, ongoing alliances with related patient advocacy groups and umbrella organizations such as the Genetic Alliance and the National Organization for Rare Disorders (NORD).

• After several years of study it was concluded that Zavesca does not halt the progression of Late Onset Tay-Sachs, the investigation of the drug in babies and children continues.
  
• Niemann-Pick Type C has shown encouraging results after 12 months in adult and pediatric patients, showing improvement or stabilization of key features of the disease such as saccadic eye movements, swallowing, cognition and auditory function. These promising results warrant discussion with regulatory authorities and continuation as planned for 24 months.
  
• Gaucher Type III showed inconclusive results after 12 months.
  
• A phase I clinical trial of an acetate supplement therapy in Canavan disease is ongoing at Sheba Medical Center in Israel.
  
• In April FDA granted marketing approval for Myozyme® (alglucosidase alfa) in the U.S. Myozyme is indicated for use in patients with Pompe disease (GAA deficiency). Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of Myozyme in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy.
  
• Shire announced in July that the FDA has granted marketing approval for Elaprase, a human enzyme replacement therapy for the treatment of Hunter syndrome, also known as Mucopolysaccharidosis II (MPS II). Shire Press Release.
  
• Even though none of lysosomal storage disease centers were awarded grants Rare Disease Clinical Research Center from the Office of Rare Diseases in 2003, it still yielded a positive outcome because the research community convened to form the Lysosomal Disease Research Network to better position itself for future federal funding. NTSAD is an ongoing part of that effort.
  
• By gaining official charitable status in the United Kingdom and having an executive director in place, GOLD is moving forward on an international level and NTSAD has been part of the development of that international organization, which brings together all stakeholders, including clinical researchers, biotechnology corporate executives and nonprofit disease organizations.
  
• The passage of the Rare Diseases and Orphan Product Development Acts in 2002 continues to ensure that research moves forward and products are developed for rare diseases. Working closely with NORD, NTSAD’s leadership, member families, and chapters and affiliates NTSAD strongly advocated for this legislation.

NTSAD also interacts regularly and maintains important relationships with biotechnology and pharmaceutical companies that focus on the development of treatments for lysosomal storage diseases. Our scientific advisors and some of our member families are involved in prototype medical treatments such as hematopoietic stem cell transplantation using umbilical cord blood, gene therapy, substrate deprivation, and soon, pharmacological chaperone therapy. There is ever-increasing evidence that the pediatric form of diseases such as Tay-Sachs and the potential treatments for it share certain characteristics with other neurodegenerative conditions, especially adult disorders of the central nervous system such as Alzheimer’s, Parkinson’s or Lou Gehrig’s (ALS) diseases. NTSAD is dedicated to promoting common areas of research interest to advance all potential research avenues. Our involvement with research, be it basic science, translational or clinical, is the key to better understanding these rare genetic conditions and to working to bring the target patient populations closer to effective medical treatments.