Status:
RECRUITING
Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration
Lead Sponsor:
Bakri Elsheikh
Collaborating Sponsors:
Genentech, Inc.
Conditions:
Spinal Muscular Atrophy
Eligibility:
All Genders
18-70 years
Brief 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 or...
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...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
October 13 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2025
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT05219487
Start Date
October 13 2021
End Date
December 31 2025
Last Update
December 31 2024
Active Locations (1)
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1
The Ohio State University Wexner Medical Center
Columbus, Ohio, United States, 43210