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NCT Number: NCT04576494

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

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.

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Key information

Conditions

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

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Damien JOLLY

Reims, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

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

nusinersen

Drug

nusinersen

Primary outcomes

  1. functional motor ability

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

CHU de Reims

Other

Registry information

Official study 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

Acronym: NUSI-AD-5qSM

Important dates

Study start
2022
Primary completion
2023
Study completion
2023
First posted
Oct 6, 2020
Registry last updated
Dec 4, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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