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

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

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.

Study Overview

• Status: Recruiting
• Conditions: Spinal Muscular Atrophy
• Intervention / Treatment: Other: Monthly assessments of functional motor abilities by a trained therapist; Drug: Nusinersen

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 Type: Interventional
• Enrollment (Anticipated): 24
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: François BOYER; Phone Number: 0033 03 26 78 89 61; Email: fboyer@chu-reims.fr

Study Locations

• France
  • Reims, France
    • Recruiting
    • Damien JOLLY
    • Contact: François BOYER; Phone Number: 0033 03 26 78 89 61; Email: fboyer@chu-reims.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: 5q-SMA type 2 and type 3 adults	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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: CHU de Reims

Study record dates

Study Major Dates

• Study Start (Actual): January 24, 2022
• Primary Completion (Anticipated): January 24, 2023
• Study Completion (Anticipated): June 1, 2025

Study Registration Dates

• First Submitted: September 29, 2020
• First Submitted That Met QC Criteria: October 5, 2020
• First Posted (Actual): October 6, 2020

Study Record Updates

• Last Update Posted (Actual): March 31, 2022
• Last Update Submitted That Met QC Criteria: March 16, 2022
• Last Verified: March 1, 2022

More Information

Terms related to this study

• Keywords: adult; quality of life; humans; muscular atrophy; oligonucleotides; survival of motor 2 protein; genetic therapy; single-case studies as topic
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: PO20136

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No