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
  • 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
  • d-HMN-non5q (Gorka): Clinical and genetical characterization of proximal hereditary motor neuropathies (NMH) unrelated to the SMN1 gene
  • NH SMA / SMOB: Outcome measures and biomarkers in a cohort of type III and IV SMA
  • Nusi-MFM: Responsiveness and validity study of MFM-32 in SMA patients treated with Nusinersen
  • MFM Play: Development and validation study of a Motor Function Measure digitalized playful completion modules: MFM-Play study







MFM Play

Intervention AVX-101 ISIS 396443 RO70344067 Nusinersen
Principal investigator Andreea Seferian Andreea Seferian Odile Boespflug-Tanguy Andreea Seferian Andreea Seferian
Sponsor AveXis BIOGEN Roche HCL HCL
Fundings AveXis BIOGEN Roche
Study status Ongoing Ongoing Ongoing Ongoing Ongoing
Recruitment status Closed Closed Closed Ongoing Ongoing
Population Child Child Child Child Child
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d-HMN-non5q (Gorka)


Intervention Nusibersen
Principal investigator Tanya Stojkovic Marcela Gargiulo Gorka Fernandez Tanya Stojkovic
Study status  Ongoing Ongoing Closed Ongoing
Recruitment status Ongoing Completed Completed Ongoing
Population  Adult Adult Adult Adult
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