Actively Recruiting
Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies
Led by St. Jude Children's Research Hospital · Updated on 2025-11-04
24
Participants Needed
1
Research Sites
69 weeks
Total Duration
On this page
Sponsors
S
St. Jude Children's Research Hospital
Lead Sponsor
G
Genentech, Inc.
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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, never walked independently, able to sit independently for 5 seconds at screening, active ankle plantar flexion strength of at least 3 N, capable of repetitive maximal plantar flexion effort for 120 seconds, HFMSE score 10 to 45 points
- Ambulatory participants: minimum function of independent walking, able to walk unassisted at least 100 meters at screening, ankle plantar flexion strength of at least 10 N, capable of repetitive maximal plantar flexion for 120 seconds, HFMSE score 40 to 60
- Current Evrysdi prescription with no treatment initiated yet OR
- Current Spinraza prescription for at least 12 months following FDA dosing OR
- Current Zolgensma prescription dosed at least one year prior OR
- Switching from Spinraza or Zolgensma to Evrysdi with prescriptions and treatment history as above OR
- Never received any SMN-directed therapies
You will not qualify if you...
- Abnormal screening labs considered clinically significant (CBC, CMP, liver function tests over twice normal, PT/PTT, urine protein 2+ or greater)
- Inability to reliably perform motor function or exercise testing in MR scanner
- Treatment with SMA-enhancing or mitochondrial-enhancing medications unless discontinued at least 3 months prior (oral albuterol, hydroxyurea, phenylbutryate, valproic acid, creatine, l-carnitine, mitochondrial supplements)
- Need for routine non-invasive ventilation support
- Non-oral nutritional support such as gastrostomy tube feeding
- Presence of ferrous metal implants (e.g., spinal rods) that prevent MR scanner testing
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
St. Jude Children's Research Hospital
Memphis, Tennessee, United States, 38105
Actively Recruiting
Research Team
J
Jean Laboe, RN
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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