NCT06532474Recruiting
Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies
Pilot Study Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies
Source: ClinicalTrials.gov · Last updated 9 Jul 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 24 (estimated)
- First submitted
- 29 Jul 2024
- Start date
- 29 Oct 2025
- Primary completion date
- Sept 2027
- Lead sponsor
- St. Jude Children's Research Hospital
- Diseases
- Spinal muscular atrophy
- NCT number
- NCT06532474
What you commit to
- Study type: Observational
- Planned participants: 24
- From 29 Oct 2025 to the primary completion date, Sept 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Any chronic medical condition, planned surgery, or treatment with a medication which would impact safety or participation of the study at the investigator's discretion
- Any ferrous metal implants (e.g., spinal rods) that preclude testing in a MR scanner.
Other
- Inability to perform reliably the motor function testing or the exercise testing in the MR scanner.
- Fat fraction \> 35% in calf or bicep at screening MRI
- Need for routine non-invasive ventilation support.
- Non-oral nutritional support, e.g., gastrostomy tube feeding.
Who the study is looking for
- Genetic confirmation of SMA with homozygous deletion of SMN1 or compound heterozygous deletion/mutation of SMN1
- Two, three, or four copies of SMN2
- Age 5 to 20 years
- Non-ambulatory participants: maximum function sitting or standing with support, HFMSE score at screening between 10 and 45 points.
- Ambulatory participants: minimum function of independent walking, able to walk unassisted a minimum of 100 meters at screening, HFMSE score at screening between 40 and 66.
- SMN-directed therapy inclusion:
- Current Evrysdi prescription (Group 1)
- Must have Evrysdi prescription through their treating physician
- If initiating combined therapy using Evrysdi with Spinraza or Zolgensma, must have not started Evrysdi treatment OR
- Current Spinraza or Zolgensma prescription (Group 2)
- For patients on Spinraza, must have been taking Spinraza for at least 12 months at screening (4 loading and 2 maintenance doses) and following the FDA-recommended dosing schedule
- For patients on Zolgensma, must have been dosed at least one year prior to screening
- Must have Spinraza or Zolgensma prescription through their treating physician OR
- Changing from Spinraza or Zolgensma to Evrysdi (Group 3)
- For patients on Spinraza, must have been taking Spinraza for at least 12 months at screening (4 loading and 2 maintenance doses) and following the FDA-recommended dosing schedule
- For patients on Zolgensma, must have been dosed at least one year prior to screening
- Must have voluntarily decided to switch therapies based on discussion with their treating physician
- Must have Evrysdi prescription through their treating physician but have not yet initiated treatment OR
- Have never received any SMN-directed therapies (Group 4)
Age in the registry: 5 years to 20 years · Sex: All
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| St. Jude Children's Research Hospital Coordinator of this site? Confirm its status | Memphis | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.