NCT05219487Completed
Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration
Source: ClinicalTrials.gov · Last updated 23 Feb 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 18 (actual)
- First submitted
- 21 Jan 2022
- Start date
- Oct 2021
- Primary completion date
- Dec 2025
- Lead sponsor
- Bakri Elsheikh
- Diseases
- Spinal muscular atrophy
- NCT number
- NCT05219487
What you commit to
- Study type: Observational
- Participants enrolled: 18
- From Oct 2021 to the primary completion date, Dec 2025
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Treatment with an investigational therapy within 180 days prior to initiation of study drug
Other illness
- History of established diagnosis of neuromuscular junction disorder
- Co-morbid conditions that preclude travel or testing
Other
- Patients who are, in the investigator's opinion, mentally or legally incapacitated to provide an informed consent
Who the study is looking for
- 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
Age in the registry: 18 years to 70 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| The Ohio State University -Wexner Medical Center Coordinator of this site? Confirm its status | Columbus | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.