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

Not Applicable

Completed

• Conditions: Spinal Muscular Atrophy
• Interventions: Other: Monthly assessments of functional motor abilities by a trained therapist; Drug: Nusinersen

• Registration Number: NCT04576494
• Lead Sponsor: CHU de Reims

Brief 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.

Study Timeline

• Study First Submitted: 2020-09-29
• Study First Submitted QC: 2020-10-05
• Study First Posted: 2020-10-06
• Study Start: 2022-01-24
• Primary Completion: 2023-01-24
• Study Completion: 2023-09-08
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-02
• Last Update Posted: 2024-12-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 4

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
5q-SMA type 2 and type 3 adults	Monthly assessments of functional motor abilities by a trained therapist	5q-SMA type 2 and type 3 adults
5q-SMA type 2 and type 3 adults	Nusinersen	5q-SMA type 2 and type 3 adults

Primary Outcome Measures

Name	Time	Method
functional motor ability	19 months	functional motor abilities will be evaluate using the Motor Function Measure global score.; The Motor Function Measure is composed of 32 items, sides from 0 to 3. A high score indicates a better motor function, which can reach a maximum of 96 points.; The average duration of the test is about 40 minutes.

Trial Locations

Locations (1)

Damien JOLLY; 🇫🇷 Reims, France