Study on Muscle Responses in Children and Teens with Spinal Muscular Atrophy Using SMN-Targeted Treatments

What this Trial Is About

Researchers are studying the effects of spinal muscular atrophy SMA drugs on muscles and nerve cells in patients with SMA types 2 and 3. This observational study aims to assess the feasibility and reliability of magnetic resonance MR functional imaging of exercising muscles, along with monitoring patients at baseline, 6 months, and 12 months. The study also seeks to understand bioenergetic responses in muscles among different SMA treatment groups and to track changes in motor function over time. Participants are grouped based on their SMA type and current or past use of SMN-directed therapies such as nusinersen Spinraza, onasemnogene abeparvovec Zolgensma, and risdiplam Evrysdi. No medications are given as part of the study instead, participants continue their prescribed treatments by their doctors. The study includes three clinic visits over one year, where various imaging, nerve, muscle, and lung function tests are performed. During each visit, participants undergo MR imaging, muscle ultrasound, nerve testing, muscle function and lung assessments, blood tests, and provide quality of life information. Researchers collect biomarkers from blood, urine, and muscle tissue to support evaluation of treatment effects. The main outcomes include MR imaging feasibility and muscle bioenergetics, with secondary measures assessing motor function changes and quality of life. After completing the three visits, participants finish their involvement in the study.

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