Rare Diseases

• Friedreich’s Ataxia (FA): 
  • Biological, clinical, and patient-reported measures of Friedreich’s Ataxia in the context of natural history
  • Impact of omaveloxolone on daily functioning
  • New methods and technological approaches to facilitate the diagnosis of FA
     
• Spinal Muscular Atrophy (SMA): 
  • Real-world experience of nusinersen after gene therapy in pediatric patients with available neurofilament, motor function, swallowing/feeding, and quality of life data (retrospective analyses of multicenter cohorts)
  • Real-world experience (motor function) of adult patients treated with nusinersen following risdiplam treatment (retrospective analyses that must include trajectory data on risdiplam prior to switching therapy) 
    
  • Real-world experience (neurofilament + motor function) of gene therapy-naïve pediatric patients treated with nusinersen following risdiplam treatment (retrospective analyses that must include trajectory data on risdiplam prior to switching therapy)
     
• Amyotrophic Lateral Sclerosis (ALS): 
  
  

  We are currently only accepting proposals from China.
  The following areas of research are currently being considered:

  • Country-specific evidence generation needs for SOD1-ALS characterization and tofersen treatment experience are prioritized for support 
    • Real-world experience with tofersen
    • Natural history of people living with SOD1-ALS
    • SOD1-ALS diagnosis and genetic counseling
    
    
    • As applicable, the following criteria will be considered in the evaluation of submitted proposals:
  • Recommended Study Elements:
    • Utilization of available genetic variant, biomarker, clinical, quality of life and PRO data from existing multi-site registries.
    • Descriptive, variant-specific, assessment of treatment response and experience.
    • Responder-based endpoints and discreet time-point analysis of disease progression to characterize changes in function.
    • For reliable neurofilament (NF) analysis, all participants should be tested using the same assay, and all samples processed in a central laboratory. Variability in assay or laboratory procedures can confound results and limit interpretation.
    • Impact of the availability of genetic counseling and testing resources on diagnosis.
    • Country-specific assessments of SOD1-ALS epidemiology
      • Address limitations of results derived from case vs. cohort studies
  • Discouraged Methodology:
    • Treatment comparisons using matched individuals from historical cohorts.
      • Baseline characteristics relevant to disease heterogeneity are often not sufficiently collected. This inadequate data collection can introduce confounding imbalances, making such comparisons unreliable.
    • Aggregate pre-post treatment/event comparisons of disease progression.
      • Given non-linear declines in function observed within an individual’s disease trajectory, aggregate methods can miss meaningful changes in function, especially over short observation windows.

Research support is awarded on a highly competitive basis, and submission of research proposals in these areas of interest does not guarantee support will be awarded.