Spinal Muscular Atrophies

Spinal muscular atrophies are characterized by muscle weakness and hypotonia due to the degeneration and loss of motor neurons. SMA type II affects one person in 70 000. Its onset is between 6 and 18 months of age. The children have difficulty in sitting alone and cannot stand or walk. The muscle weakness affects mainly the muscles of the legs and the trunk.

Trials currently conducted on these diseases at the Institute:

  • AVXS-101-LT-002: A Long-term Follow-up Study of Patients in the Clinical Trials for SMA Receiving AVXS-101
  • IONIS-CS11-SHINE: An Open-label extension study for patients with spinal muscular atrophy who previously participated in investigational studies of ISIS 396443
  • SUNFISH: A two-part seamless, multi-center randomized, placebo-controlled, doubleblind study to investigate the safety, tolerabilty, pharmacokinetics, pharmacodynamics and efficacy of RO7034067 in type 2 and 3 spinal muscular atrophy patients
  • Nusi-MFM: Responsiveness and validity study of MFM-32 in SMA patients treated with Nusinersen
  • REALITY: A randomized crossover pragmatic study to evaluate virtual reality for the mitigation of anxiety during intrathecal administration in patients with spinal muscular atrophy.
  • SAPPHIRE: Phase 3, double-Blind, placebo-controlled trial to evaluate the efficacy and safety of Apitegromab (SRK-015) in patients with later-onset Spinal Muscular Atrophy receiving background Nusinersen or Risdiplam therapy
  • RESILIENT: A randomized, double-blind, placebo-controlled, study to evaluate the efficacy and safety of Taldefgrobep alfa in ambulatory and non-ambulatory participants with Spinal Muscular Atrophy with open-label extension
  • R-SMA: French Register of Patients with SMA
  • SMA-PAR: Consequences of a progressive génético disease, spinal muscular atrophy, on the representations of parenthood and parental overload
  • NH-SMA / SMOB: Outcome measures and biomarkers in a cohort of type III and IV SMA







Intervention AVX-101 ISIS 396443 RO70344067 Nusinersen
Principal investigator Andreea Seferian Andreea Seferian Odile Boespflug-Tanguy Andreea Seferian
Sponsor AveXis BIOGEN Roche HCL
Study status Ongoing Ongoing Ongoing Ongoing
Recruitment status Closed Closed Closed Ongoing
Population Child Child Child Child
+ infos on clinicaltrials.gov + infos on clinicaltrials.gov infos on clinicaltrials.gov






Intervention Virtual reality Apitegromab Taldefgrobep alfa
Principal investigator Marie-Christine Nougues Andreea Seferian Marina Colella
Sponsor BIOGEN Scholar Rock BIOHAVEN Ph.
Study status Ongoing Ongoing In preparation
Recruitment status Ongoing Ongoing In preparation
Population Child Child Child
  + infos on clinicaltrials.gov + infos on clinicaltrials.gov + infos on clinicaltrials.gov






Intervention Nusibersen
Principal investigator Tanya Stojkovic Marcela Gargiulo Tanya Stojkovic
Study status  Ongoing Ongoing Ongoing
Recruitment status Ongoing Completed Ongoing
Population  Adult Adult Adult
 + infos on clinicaltrials.gov + infos sur clinicaltrials.gov


Contact for adults clinical trials: essais-adultes@institut-myologie.org