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

NCT ID: NCT04576494

Last Updated: 2024-12-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

4 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-01-24

Study Completion Date

2023-09-08

Brief Summary

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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

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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

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Spinal Muscular Atrophy

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

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5q-SMA type 2 and type 3 adults

5q-SMA type 2 and type 3 adults

Group Type EXPERIMENTAL

Monthly assessments of functional motor abilities by a trained therapist

Intervention Type OTHER

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

Nusinersen

Intervention Type DRUG

nusinersen

Interventions

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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

Intervention Type OTHER

Nusinersen

nusinersen

Intervention Type DRUG

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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CHU de Reims

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Damien JOLLY

Reims, , France

Site Status

Countries

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France

Other Identifiers

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PO20136

Identifier Type: -

Identifier Source: org_study_id