NCT04576494

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

Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms): a Multicenter Single-case Experimental Design in Multiple Baselines Across Subjects, Randomized, Single-blinded Evaluation

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 4 (actual)
• Sponsor: CHU de Reims · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

The aim of the study will be to evaluate the impact on functional motor abilities of intrathecally-injected nusinersen in adult 5q-SMA type 2 and type 3 persons. If the efficacy of nusinersen protocol will demonstrate the positive impact for patient's, the results of this study would promote an improvement in the medical service rendered in this population in terms of disease stabilization, maintenance of functional capacities and social participation.

Conditions

• Spinal Muscular Atrophy

Interventions

Type	Name	Description
OTHER	Monthly assessments of functional motor abilities by a trained therapist	Monthly assessments of functional motor abilities in adult 5q-SMA type 2 and type 3 patients by a trained therapist
DRUG	Nusinersen	nusinersen

Timeline

• Start date: 2022-01-24
• Primary completion: 2023-01-24
• Completion: 2023-09-08
• First posted: 2020-10-06
• Last updated: 2024-12-04

Locations

1 site across 1 country: France