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

NCT04576494 | Completed

• 1 other identifier: PO20136
• Study Type: interventional
• Target: 4
• Locations: 1 country
• Sites: 1

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.

Conditions

Spinal Muscular Atrophy

Keywords

oligonucleotides; survival of motor 2 protein; muscular atrophy; quality of life; genetic therapy; single-case studies as topic; humans; adult

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

5q-SMA type 2 and type 3 adults

EXPERIMENTAL

5q-SMA type 2 and type 3 adults

Other: Monthly assessments of functional motor abilities by a trained therapist; Drug: Nusinersen

Interventions

Monthly assessments of functional motor abilities by a trained therapist OTHER

Monthly assessments of functional motor abilities in adult 5q-SMA type 2 and type 3 patients by a trained therapist

5q-SMA type 2 and type 3 adults

Nusinersen DRUG

nusinersen

5q-SMA type 2 and type 3 adults

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Adults (over 18 years of age)
• q-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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• CHU de Reims: lead

Study Sites (1)

Damien JOLLY

Reims, France

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Muscular Atrophy

Interventions

nusinersen

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases; Neuromuscular Manifestations; Neurologic Manifestations; Atrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms; Signs and Symptoms

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 29, 2020
• First Posted: October 6, 2020
• Study Start: January 24, 2022
• Primary Completion: January 24, 2023
• Study Completion: September 8, 2023
• Last Updated: December 4, 2024

Record last verified: 2024-12

Locations

FR (1)