Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration

Launched by BAKRI ELSHEIKH · Jan 21, 2022

Keywords

ClinConnect Summary

This clinical trial is looking at how a treatment called Risdiplam can help improve problems at the neuromuscular junction (NMJ) in adults with Spinal Muscular Atrophy (SMA). The NMJ is where nerves connect with muscles, and issues here can affect muscle function. To participate, individuals must be between the ages of 18 and 70, have been taking Risdiplam for at least 12 months, and have a confirmed diagnosis of SMA through genetic testing.

Participants in the study will attend one visit where they will be evaluated to see how Risdiplam has affected their NMJ defects. It’s important that those interested in joining the trial are in good health and can provide informed consent. People who have received other experimental treatments recently or have certain medical conditions that could affect their ability to participate will not be eligible. This study is currently recruiting participants, and it's a great opportunity to help researchers learn more about SMA and potential treatment benefits.

Gender

ALL

Eligibility 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