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ML43225: Spinal Muscular Atrophy Muscle Response Study

About this study

Spinal muscular atrophy (SMA) is a genetic condition, which means that a tendency for the disease can be passed down from parents. SMA weakens muscles over time, making it hard for people to move, breathe, and do everyday activities. There are medicines available to help manage SMA, but we want to learn more about how these drugs affect muscles and nerve cells. 

ML43225 is an observational study, meaning that no new medicines will be given. Instead, we will study how different SMA treatments affect the body. We will use MRI scans and other tests to see how muscles respond to treatment over time.

We will study how 3 drugs may change a patient’s nerve and muscle cells. We will compare their results to patients who are not taking any treatment.

We will monitor patients with 2 types of SMA:

  • SMA Type 2 usually appears in babies 6–18 months old. Over time, their muscles get weaker, making it harder to move, breathe, and swallow.
  • SMA Type 3 is milder and usually starts later in childhood or even the teen years. People with Type 3 can stand and walk, but they may have trouble with stairs or running. As they get older, their muscles may weaken, and some may eventually need a wheelchair.

We will check the muscle activity of these patients at the start of the study, after 6 months, and after a year. The study will look at 4 groups of patients, including those who: 

  • Are untreated
  • Take nusinersen (Spinraza®) or onasemnogene abeparvovec (Zolgensma®),
  • Take risdiplam (Evrysdi®)
  • Switch from Spinraza or Zolgensma to Evrysdi

This will help us understand how each treatment affects muscle health.

We also want to find out if magnetic resonance imaging (MRI) imaging is a good way to measure muscle function in people with SMA. At each visit, patients will have: 

  • An MRI scan 
  • Muscle strength tests to track any changes over time
  • Blood samples collected to help scientists study substances in the blood related to SMA treatment

This study could lead to better ways of measuring how well SMA treatments work. If MRI imaging is useful, doctors may use it to track muscle changes more often in the future. 

Eligibility overview

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The above information is intended to provide only a basic description about a research protocol that may be currently active at St. Jude. The details made available here may not be the most up-to-date information on protocols used by St. Jude. To receive full details about a protocol and its status and or use at St. Jude, a physician must contact St. Jude directly.

Overview

Full title:

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

Study goal:

To study how different SMA drugs affect muscles and nerve cells and to study the use of MRI to track muscle changes.

Diagnosis:

Spinal muscular atrophy

Age:

5-20 years old

Clinical trials categories:

Spinal Muscular Atrophy (SMA) Neurological Disorders

For physicians and researchers

Patients accepted to St. Jude must be referred by a physician or other qualified medical professional. Learn how St. Jude can partner with you to care for your patient.

 

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