Spinal Muscular AtrophyNUSI-AD-5qSMNCT04576494
Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms)
A study testing Monthly assessments of functional motor abilities by a trained therapist and Nusinersen in people with Spinal Muscular Atrophy, run by CHU de Reims at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- Monthly assessments of functional motor abilities by a trained therapist and Nusinersen
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- 1 siteFrance
- Study dates
- 24 Jan 2022to 8 Sep 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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
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.
Read the 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.
- Conditions
- Spinal Muscular Atrophy
- Being tested
- Monthly assessments of functional motor abilities by a trained therapist, Nusinersen
- Keywords
- oligonucleotides, survival of motor 2 protein, muscular atrophy, quality of life, genetic therapy, single-case studies as topic, humans, adult
- Medical subject headings
- Muscular Atrophy, Spinal, Muscular Atrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Monthly assessments of functional motor abilities by a trained therapistOther
Monthly assessments of functional motor abilities in adult 5q-SMA type 2 and type 3 patients by a trained therapist
NusinersenDrug
nusinersen
| Study group | Role | What they receive |
|---|---|---|
| 5q-SMA type 2 and type 3 adults | Experimental | 5q-SMA type 2 and type 3 adults Receives: Other: Monthly assessments of functional motor abilities by a trained therapist; Drug: Nusinersen |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 19 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Oct 2020
- Study start24 Jan 2022
- Primary completion24 Jan 2023
- Study completion8 Sep 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by CHU de ReimsThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- CHU de Reims
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04576494
- Sponsor's protocol ID
- PO20136
- Acronym
- NUSI-AD-5qSM
- Status last verified
- Dec 2024
- First submitted
- 29 Sep 2020
- Last updated
- 4 Dec 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT04576494
- Acronym / sponsor ID
- NUSI-AD-5qSM / PO20136
- 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
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- CHU de ReimsUniversity, hospital or other
- Study start
- 24 Jan 2022 (actual)
- Primary completion
- 24 Jan 2023 (actual)
- Study completion
- 8 Sep 2023 (actual)
- First posted
- 6 Oct 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 5q-SMA type 2 and type 3 adults | Experimental | Other: Monthly assessments of functional motor abilities by a trained therapist, Drug: Nusinersen5q-SMA type 2 and type 3 adults |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (7 listed)
- 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).
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Monthly assessments of functional motor abilities by a trained therapistMonthly assessments of functional motor abilities in adult 5q-SMA type 2 and type 3 patients by a trained therapist | Other | 5q-SMA type 2 and type 3 adults |
| Nusinersennusinersen | Drug | 5q-SMA type 2 and type 3 adults |
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Dec 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Monthly assessments of functional motor abilities by a trained therapist and Nusinersen in people with Spinal Muscular Atrophy, run by CHU de Reims at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
functional motor ability (time frame: 19 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Dec 2024; AzTrials last refreshed its copy on 7 Nov 2026.