Studies & Research

Studies & Research

Disorders studied by the research team include the following:

Research Studies
  • Clinical and genetic studies in SMA
  • Prospective study of bone abnormalities in SMA
  • Pilot newborn screening project to identify and follow prospective infants with SMA
  • SPOT SMA Study:¬†Identification and longitudinal follow-up of infants and children with SMA
  • Nurture Study: An open label study of Nesinersen in presymptomatic snfants with SMA
  • ACH International Registry, Database and Tissue Repository
  • AHC Natural History Study
  • Neuronal Ceroid Lipofuscinoses Registry, Database and Tissue Repository
  • Clinical and Genetic studies in Pediatric Motor Disorders
  • Clinical and Genetic studies in Disorders of Energy Metabolism