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

Spinal Muscular Atrophy Clinical Trial

— NUSI-AD-5qSM  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04576494
• Other study ID #: PO20136
• Status: Recruiting
• Phase: N/A
• Start date: January 24, 2022
• Est. completion date: June 2025

Study information

• Verified date: March 2022
• Source: CHU de Reims
• Contact: Francois BOYER
• Phone: 03 26 78 89 61
• Email: fboyer[@]chu-reims.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 24
• Est. completion date: June 2025
• Est. primary completion date: January 24, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

inclusion criteria :

• Adults (over 18 years of age)

• 5q-SMA type 2 or 3

• with indication for nusinersen treatment by the physician of the center of reference and competence for neuromuscular diseases

• accepting treatment by nusinersen

• Agreeing to participate in the study (signature of the informed consent form).

• living within a radius of 40 km of the investigation center (for logistical reasons related to the conduct of assessments in the patient's home).

• affiliated to a social security system.

exclusion criteria :

• minors (less than 18 years of age)

• with a contra-indication to the nusinersen: pregnancy, breast feeding, hypersensitivity to the nusinersen

• with a contraindication to lumbar puncture: hemostasis disorder, intracerebral mass

• benefiting from another gene therapy drug to treat spinal muscular atrophy.

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

Intervention

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

Locations

Country	Name	City	State
France	Damien JOLLY	Reims

Sponsors (1)

Lead Sponsor	Collaborator
CHU de Reims

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	functional motor ability	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.	19 months