Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms) (NUSI-AD-5qSM)
Primary Purpose
Spinal Muscular Atrophy
Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Monthly assessments of functional motor abilities by a trained therapist
Nusinersen
Sponsored by
About this trial
This is an interventional other trial for Spinal Muscular Atrophy focused on measuring oligonucleotides, survival of motor 2 protein, muscular atrophy, quality of life, genetic therapy, single-case studies as topic, humans, adult
Eligibility Criteria
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.
Sites / Locations
- Damien JOLLYRecruiting
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
5q-SMA type 2 and type 3 adults
Arm Description
5q-SMA type 2 and type 3 adults
Outcomes
Primary Outcome Measures
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.
Secondary Outcome Measures
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT04576494
Brief Title
Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms)
Acronym
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
Study Type
Interventional
2. Study Status
Record Verification Date
March 2022
Overall Recruitment Status
Recruiting
Study Start Date
January 24, 2022 (Actual)
Primary Completion Date
January 24, 2023 (Anticipated)
Study Completion Date
June 2025 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
CHU de Reims
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
5. Study Description
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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Spinal Muscular Atrophy
Keywords
oligonucleotides, survival of motor 2 protein, muscular atrophy, quality of life, genetic therapy, single-case studies as topic, humans, adult
7. Study Design
Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
24 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
5q-SMA type 2 and type 3 adults
Arm Type
Experimental
Arm Description
5q-SMA type 2 and type 3 adults
Intervention Type
Other
Intervention Name(s)
Monthly assessments of functional motor abilities by a trained therapist
Intervention Description
Monthly assessments of functional motor abilities in adult 5q-SMA type 2 and type 3 patients by a trained therapist
Intervention Type
Drug
Intervention Name(s)
Nusinersen
Intervention Description
nusinersen
Primary Outcome Measure Information:
Title
functional motor ability
Description
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.
Time Frame
19 months
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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.
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Francois BOYER
Phone
03 26 78 89 61
Ext
0033
Email
fboyer@chu-reims.fr
Facility Information:
Facility Name
Damien JOLLY
City
Reims
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Francois BOYER
Phone
03 26 78 89 61
Ext
0033
Email
fboyer@chu-reims.fr
12. IPD Sharing Statement
Learn more about this trial
Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms)
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