Investigating NMJ defects in adults with spinal muscular atrophy treated with Risdiplam
Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration
This study is testing how well Risdiplam works on nerve and muscle connections in adults with spinal muscular atrophy who have been taking the medication for at least a year.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 18 Years to 70 Years |
| Sex | All |
| Sponsor | Ohio State University Academic / other |
| Locations | 1 site (Columbus, Ohio) |
| Trial ID | NCT05219487 on ClinicalTrials.gov |
What this trial studies
This observational study aims to assess the effects of Risdiplam on neuromuscular junction (NMJ) function in adults diagnosed with spinal muscular atrophy (SMA). Participants will have been on Risdiplam for at least 12 months and will undergo various evaluations, including physical examinations and diagnostic tests like repetitive nerve stimulation and motor unit number estimation. The study will focus on measuring changes in NMJ transmission and overall motor function using established scales and tests.
Who should consider this trial
Good fit: Ideal candidates for this study are adults aged 18-70 with genetically confirmed 5q spinal muscular atrophy who have been treated with Risdiplam for at least 12 months.
Not a fit: Patients with a history of neuromuscular junction disorders or those who have received investigational therapies within the last 180 days may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide insights into the effectiveness of Risdiplam in improving NMJ function and overall motor abilities in adults with SMA.
How similar studies have performed: While this study investigates a specific aspect of NMJ function in SMA, similar approaches have shown promise in other neuromuscular conditions, indicating potential for success.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Exclusion Criteria: * 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
Where this trial is running
Columbus, Ohio
- The Ohio State University Wexner Medical Center — Columbus, Ohio, United States (Recruiting)
Study contacts
- Principal investigator: Bakri Elsheikh, MBBS — Ohio State University
- Study coordinator: Gia Cinkay
- Email: Georgia.Cinkay@osumc.edu
- Phone: 614-366-9050
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.