Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration

Study Identifier:
2021H0158
ClinicalTrials.gov Identifier:
NCT05219487
EudraCT Identifier:
N/A
EU CT Number:
N/A
Sponsor:
Bakri Elsheikh
Study Complete

Study Details

Medical Condition
  • All Spinal Muscular Atrophies
Study Drug
  • Drug: Risdiplam
Date
Oct 2021 - Dec 2025
Patient Requirements
Sex: Female & Male
Age: 18 - 70 Years
Requirements Information
Inclusion and 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

Protocol 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. All subjects will be evaluated at one visit. Eligible subjects must have been receiving risdiplam for at least 12 months.

Trial Locations

Location
Status
Location
The Ohio State University Wexner Medical Center
Columbus, Ohio, United States, 43210
Status
N/A

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