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:
- AveXis: Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 with One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion
- IONIS-CS11-SHINE: An Open-label extension study for patients with spinal muscular atrophy who previously participated in investigational studies of ISIS 396443
- Nathis-SMA: Prospective study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy
- Registry SMA 1
- FIREFISH: A two part seamless multicenter study to investigate the safety, tolerability, pharmacokinetics, pharmacodynamics and efficacy of RO7034067 in infants with spinal muscular atrophy type 1
- 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