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
Acronym |
AVXS-101-LT-002 |
IONIS-CS11-SHINE |
SUNFISH |
Nusi-MFM |
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 |
Acronym |
REALITY |
SAPPHIRE |
RESILIENT |
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 |
Acronym |
R-SMA |
SMA-PAR |
NH-SMA / SMOB |
Intervention | – | – | Nusibersen |
Principal investigator | Tanya Stojkovic | Marcela Gargiulo | Tanya Stojkovic |
Sponsor | APHP | AIM | APHM |
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