Clinical Study Alert: Open-Label, Observational Study of Risdiplam in Adults with SMA

Researchers at Ohio State University are seeking adults with spinal muscular atrophy (SMA) who have been treated with the FDA-approved therapy risdiplam (brand name Evrysdi®) to participate in an open-label clinical study to evaluate the effect of the drug on neuromuscular junction (NMJ) transmission. SMA involves the loss of muscle-controlling nerve cells (motor neurons) in the spinal cord, which causes progressive muscle weakness in people with the disease. The current study is examining whether treatment with risdiplam may increase the communication between motor neurons and muscles (NMJ transmission) in people with SMA.

This is an observational study that will enroll 30 adults with SMA who have been treated with risdiplam for 12 months or longer. Eligible participants will be evaluated in a single clinic visit.

Risdiplam is administered orally (by mouth). The effects of risdiplam will be evaluated using a number of tests and procedures at each visit including but not limited to: physical exam/measurement of vitals, strength measurement using hand-held dynamometry, six-minute walk test (ambulatory patients), Hammersmith Functional Motor Scale Expanded (ambulatory patients), Revised Upper Limb Module (RULM), SMA Functional Rating Scale, Fatigue Severity Scale, and non-invasive electrophysiological testing (RNS/CMAP/MUNE).

To be eligible, individuals must meet the following inclusion criteria:

• Signed Informed Consent Form
• Age 18-70 years at time of signing Informed Consent Form
• Ability to comply with the study protocol, in the investigator’s judgment
• 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

Individuals may not be eligible to participate if they are affected by another condition or receiving another treatment that might interfere with the ability to undergo safe testing.

Please visit this link for the full listing of inclusion and exclusion criteria.

Patients will receive a $100 stipend for participating, as well as mileage reimbursement if they live more than 60 miles from the site.

To learn more about the study or inquire about participation, contact the study coordinator Gia Cinkay at email: georgia.cinkay@osumc.edu or telephone: 614-366-9050.