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

Part of paid clinical trials in Memphis, Tennessee.

Sponsor
St. Jude Children's Research Hospital
Study ID
NCT06532474
Status
Recruiting
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Conditions

  • Spinal Muscular Atrophy

Eligibility Criteria

Sex
ALL
Age
5 Years - 20 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

First listed
Aug 1, 2024
Start date
Oct 29, 2025
Status verified
Jul 2026
Primary completion
Sep 30, 2027
Completion
Sep 30, 2028

Study Design

Enrollment
24 participants (estimated)

Arms

  • Arm: Cohort 1
    Current Evrysdi prescription or initiating combination therapy with Evrysdi to current Spinraza or Zolgenzma prescription
  • Arm: Cohort 2
    Current Spinraza or Zolgensma prescription
  • Arm: Cohort 3
    Changing from Spinraza or Zolgensma to Evrysdi
  • Arm: Cohort 4
    Have never received any SMN-directed therapies

Primary Outcome Measure

Feasibility of performing MR functional imaging in SMA patients [ Time Frame: At baseline and at 6 months (+/- 14 days) ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
St. Jude Children's Research HospitalMemphisTennessee38105
Jean Laboe, RN
[email protected]
901-595-1693
Richard Finkel, MD (PRINCIPAL_INVESTIGATOR)

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