Rare Diseases

The following areas of research are being considered from countries where high dose nusinersen (50 mg/5mL and 28mg/5mL) has been approved.

• Real-world treatment outcomes of high dose nusinersen (50 mg/5mL and 28mg/5mL) in treatment-naïve patients
  • Primary outcomes of interest include motor function, eating/swallowing/feeding, and electrophysiology
  • Proposals that include collection of baseline data prior to treatment initiation will be prioritized
• Real-world treatment outcomes, preferences, and satisfaction/experiences with high dose nusinersen (50 mg/5mL and 28mg/5mL) in treatment-experienced patients switching from nusinersen (12mg/5mL) or risdiplam
  • Primary outcomes of interest include motor function, electrophysiology, ADLs, fatigability, eating/swallowing/feeding, and voice quality
  • Proposals that include the evaluation of outcome data prior to switching will be prioritized

The following are additional areas of research in SMA being considered

• 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)

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

Biogen is NOT considering the following research areas(s):

• Tofersen treatment for non-SOD1 ALS
• Off-label disease areas