not yet recruiting

Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms)

key information

study id #: NCT04576494

condition: Spinal Muscular Atrophy

status: Not yet recruiting


Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by a mutation of exon 7, in 95% of cases, encoding the gene for the motor neuron survival protein called SMN1 (Survival Motor Neuron) located on chromosome 5q. Patients with an SMA-5q mutation suffer from progressive muscle deficiency and subsequent atrophy induced by degeneration of motor neurons in the spinal cord. Gene therapy is now available for the management of spinal muscular atrophy and nusinersen is the first approved treatment. Nusinersen has been granted marketing authorization in France since May 30, 2017. Nusinersen has a high level of medical service rendered (MSR) for types I, II, and III, but the improvement in medical service rendered (IMSR) is assessed as moderate for types I and II. For Type III, IMSR is not known.

intervention: Monthly assessments of functional motor abilities by a trained therapist, Nusinersen


last updated: February 04, 2022