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Spinal Muscular AtrophyNCT05219487

Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration

An observational study of Spinal Muscular Atrophy, run by Bakri Elsheikh at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

This is an observational study to investigate the improvement of NMJ defects in adult patients with SMA following treatment with Risdiplam. Eligible patients will have received treatment with daily oral Risdiplam after receiving approval through their commercial insurance or drug assistance program. Read more about this study

Who is it for?
Ages 18 to 70 years
Conditions the study is for
Spinal Muscular Atrophy
What is being tested?
Risdiplam
Type of treatment
Pill or oral medicine
How many people
18 participants
Where
1 siteUnited States
Study dates
13 Oct 2021to 31 Dec 2025
Phase
Observational
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 to 70 years
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Study population: The study will enroll genetically confirmed adults with 5 q SMA with electrodiagnostic evidence of NMJ defects treated with risdiplam for a duration of 12 months or longer.

Who may be able to join

  • Signed Informed Consent Form
  • Age 18-70 years at time of signing Informed Consent Form
  • Able and willing to provide written informed consent and to comply with the program protocol according to ICH and local regulations
  • Ability to comply with the study protocol, in the investigator's judgment
  • Adequately recovered from any acute illness at the time of screening, and considered clinically well enough to participate, in the opinion of the treating physician
  • Patients with retinopathy of prematurity should have evidence of stable disease
  • Genetic confirmation of 5q SMA documented on standard genetic tests for the disorder
  • Treated with risdiplam for a duration of 12 months or longer

Who cannot join

  • Treatment with an investigational therapy within 180 days prior to initiation of study drug
  • History of established diagnosis of neuromuscular junction disorder
  • Co-morbid conditions that preclude travel or testing
  • Patients who are, in the investigator's opinion, mentally or legally incapacitated to provide an informed consent

Trial locations and contacts

1 site in 1 country.

United States1 site

  • The Ohio State University Wexner Medical Center

    Columbus, Ohio, 43210

Other trials in United States

About this study

This is an observational study to investigate the improvement of NMJ defects in adult patients with SMA following treatment with Risdiplam. Eligible patients will have received treatment with daily oral Risdiplam after receiving approval through their commercial insurance or drug assistance program. All subjects will be evaluated at one visit. Eligible subjects must have been receiving risdiplam for at least 12 months.

Read the detailed description

This is a proof of concept trial to investigate the impact of FDA approved therapy for adults with SMA on NMJ transmission. The study will enroll genetically confirmed adults with 5 q SMA treated with risdiplam for at least 12 months. Dosing will be weight- based as approved by the FDA (US Prescribing Information).

Assessments will include medical history, general physical and neurological examinations, vital signs, and the recording of adverse events. Diagnostic tests will include repetitive nerve stimulation (RNS), motor unit number estimation (MUNE), and decomposition EMG (dEMG). Further evaluations will utilize the Hammersmith Functional Motor Scale Expanded (HFMSE), the Revised Upper Limb Module (RULM), the modified SMA Functional Rating Scale (SMAFRS), and the Fatigue Severity Scale (FSS). For ambulatory subjects, the assessment will include a six-minute walk test, while for non-ambulatory subjects, the Children's Hospital of Philadelphia Adult/Adolescent Test of Neuromuscular Disorders (CHOP INTEND) will be performed. Handheld dynamometry will be used to measure strength in bilateral shoulder abduction, elbow flexion, elbow extension, hip flexion, hip abduction, hip adduction, knee flexion, and knee extension.

The study aims to investigate the impact of Risdiplam on neuromuscular junction (NMJ) function by assessing changes in the percent decrement of the compound muscle action potential amplitude, as measured through 3 Hz repetitive nerve stimulation (RNS) of the spinal accessory nerve. These results will be compared to historical controls. Additionally, the study will evaluate the differences in strength, motor function, and electrophysiological test scores between groups, which will be stratified based on a 10% decrement cutoff. Further analysis will explore the association between these measures and percent decrement among ambulatory and non-ambulatory patients.

Being tested
Risdiplam
Medical subject headings
Muscular Atrophy, Spinal

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • RisdiplamDrug

    Also called Evrysdi®

    Risdiplam is administered orally once daily and the recommended dosage is determined by age and body weight (see Table 1) [as outlined in the US Prescribing Information for EVRYSDI™(risdiplam)].

    Table 1 Adult and Pediatric Dosing Regimen by Age and Body Weight: US Prescribing Information

    Age and Body Weight (Recommended Daily Dosage): 2 months to less than 2 years of age (0.2 mg/kg); 2 years of age and older weighing less than 20 kg (0.25 mg/kg); 2 years of age and older weighing 20 kg or more (5 mg)

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Decrement on repetitive nerve stimulation

    Change in the percent decrement of the compound muscle action potential amplitude assessed using 3 Hz repetitive nerve stimulation (RNS) of the spinal accessory nerve compared to historical controls.

    If CMAP amplitude is absent at spinal accessory nerve, SMA, ulnar CMAP will be used to assess NMJ transmission.

    Measured: Baseline

Secondary outcomes (10)

  1. Six Minute Walk Test (6MWT) Total Distance

    The score difference between groups stratified using a 10% decrement cutoff

    Measured: Baseline

  2. Six Minute Walk Test Difference in Distance Between the First and Final minute

    The score difference between groups stratified using a 10% decrement cutoff

    Measured: Baseline

  3. Modified Spinal Muscular Atrophy Function Rating Scale (SMA-FRS)

    The score difference between groups stratified using a 10% decrement cutoff (scale 0-40, higher score is better).

    Measured: Baseline

  4. Revised Upper Limb Module (RULM)

    The score difference between groups stratified using a 10% decrement cutoff (scale 0-37, a higher score is better)

    Measured: Baseline

  5. Hammersmith Functional Rating Scale (HFMSE)

    The score difference between groups stratified using a 10% decrement cutoff (0-66, a higher score is better

    Measured: Baseline

  6. Fatigue Severity Scale (FSS)

    The score difference between groups stratified using a 10% decrement cutoff (9-63, the higher the score the higher the fatigue)

    Measured: Baseline

  7. Children's Hospital of Philadelphia - Adult Test of Neuromuscular Disorders (CHOP-ATEND)

    The score difference between groups stratified using a 10% decrement cutoff analyses (0-52, a higher score is better)

    Measured: Baseline

  8. Strength Measure using Hand Held Dynamometry

    Strength measurements of of bilateral shoulder abduction, elbow flexion, elbow extension, hip flexion, hip abduction, hip adduction, knee flexion and knee extension. The score difference between groups stratified using a 10% decrement cutoff analyses.

    Measured: Baseline

  9. Ulnar Compound Muscle Action Potential (Ulnar -CMAP)

    The difference in amplitudes between groups stratified using a 10% decrement cutoff

    Measured: Baseline

  10. Motor Unit Number Estimation (MUNE)

    Ulnar MUNE using modified multipoint technique. The difference in MUNE score between groups stratified using a 10% decrement cutoff

    Measured: Baseline

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted2 Feb 2022
  2. Study start13 Oct 2021
  3. Primary completion31 Dec 2025
  4. Study completion31 Dec 2025

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Other
Time perspective
Prospective
Enrolment
18 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT05219487
Sponsor's protocol ID
2021H0158
Other IDs
ML43109
Status last verified
Feb 2026
First submitted
21 Jan 2022
Last updated
23 Feb 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No

Questions about this trial

What is this clinical trial studying?

An observational study of Spinal Muscular Atrophy, run by Bakri Elsheikh at 1 site in United States.

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 8 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 23 Feb 2026. 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 United States. 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?

Decrement on repetitive nerve stimulation (time frame: Baseline). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT05219487.

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 23 Feb 2026.

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