Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies

🩺 Protocol Summary

In this observational study, researchers are looking at the effects of spinal muscular atrophy (SMA) drugs on the muscles and nerve cells in patients with SMA. Primary Objectives * To evaluate the feasibility and reliability of performing MR functional imaging in exercising muscle in patients with SMA. * To evaluate patients with SMA types 2 and 3 at baseline and longitudinally at 6 and 12 months Secondary Objectives * To describe the MR functional bioenergetics response in muscles in five potential groups of patients with spinal muscular atrophy: untreated, actively treated with nusinersen (Spinraza®) or onasemnogene abeparvovec (Zolgensma®), actively treated with risdiplam (Evrysdi®), switching from Spinraza or Zolgensma to Evrysdi and initiating combination therapy of Spinraza or Zolgensma with Evrysdi . * To identify changes in motor function in patients with SMA types 2 and 3 who initiate treatment with risdiplam. * To obtain biomarkers in blood, urine, and muscle tissue to provide proof-of-concept support for risdiplam effect on skeletal muscle. * To obtain quality of life and disability data from participants in this study.

Primary Research Facility: St. Jude Children's Research Hospital (Memphis, Tennessee)

Review these 3 basic logistical and protocol criteria extracted from the public NIH record. (This is a preliminary logistical checklist, not an official clinical eligibility determination).

Diagnosed with, undergoing evaluation for, or seeking treatment related to Spinal Muscular Atrophy?

🔍 Study Population / Focus Area (Source: Protocol Primary Condition)

Aged between 5 Years and 20 Years?

🔍 Protocol Specified Age Range: 5 Years to 20 Years

Able to attend required clinic visits at St. Jude Children's Research Hospital (Memphis, Tennessee)?

🔍 Logistical Requirement: Site at St. Jude Children's Research Hospital

📍 Primary Site Map

Site: St. Jude Children's Research Hospital — Memphis, Tennessee

💰 Clinical Trial Costs & Insurance Coverage

Coverage for clinical trial participation varies depending on your health insurance policy, state legislation, and whether specific procedures are investigational research or routine medical care. Under federal law (Affordable Care Act § 2709), health insurers generally cannot drop coverage or refuse to pay for routine patient care costs incurred in approved clinical trials.

💡 Always ask the study coordinator for the trial's official Informed Consent Form, which outlines all sponsor-funded research items versus procedures billed to your insurance.