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

NCT06532474 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 24

Last updated 2025-11-04

No results posted yet for this study

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 the leg muscles in four potential groups of patients with spinal muscular atrophy: untreated, actively treated with nusinersen (Spinraza®) or onasemnogene abeparvovec (Zolgensma®), actively treated with risdiplam (Evrysdi®), and switching from Spinraza or Zolgensma to 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.

Conditions

Sponsors & Collaborators

Principal Investigators

  • Richard Finkel, MD · St. Jude Children's Research Hospital

Eligibility

Min Age
5 Years
Max Age
20 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-10-29
Primary Completion
2026-09-30
Completion
2027-03-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06532474 on ClinicalTrials.gov