Examining muscle responses in spinal muscular atrophy patients treated with specific therapies

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study investigates the effects of spinal muscular atrophy (SMA) drugs on muscle and nerve responses in patients with SMA. Participants will be grouped based on their SMA type and treatment status, and will undergo a series of assessments including MR imaging, muscle ultrasounds, and functional tests over the course of one year. The study aims to evaluate the feasibility of MR imaging in exercising muscle and to gather biomarkers that reflect the impact of treatments like risdiplam on skeletal muscle function.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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)

Exclusion Criteria:

* 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
* 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.
* Any ferrous metal implants (e.g., spinal rods) that preclude testing in a MR scanner.

Where it's running

• St. Jude Children's Research Hospital
  Memphis, Tennessee, United States Recruiting

Study contacts

• Principal investigator: Richard Finkel, MD — St. Jude Children's Research Hospital
• Study coordinator: Jean Laboe, RN
• Email: referralinfo@stjude.org
• Phone: 901-595-1693

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Pregnancy-time treatment of fetal SMA: a registry of mother-child outcomes

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• Intrathecal Zolgensma in spinal muscular atrophy patients in Japan

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  Recruiting at 6 sites Phase 4 Novartis · Little Rock, Arkansas and 5 other locations · NCT07448610

• Salanersen (BIIB115) for improving movement in people 15–60 with spinal muscular atrophy who are treatment‑naïve or previously on risdiplam

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  Recruiting at 3 sites Phase 3 Biogen · Palo Alto, California and 2 other locations · NCT07444476

• CuidAME: Spain's longitudinal registry for spinal muscular atrophy

  This project collects long-term clinical and treatment data from children and adults with genetically confirmed 5q spinal muscular atrophy in Spain to track outcomes over time.

  Recruiting Fundació Sant Joan de Déu · Esplugues de Llobregat · NCT07231549

• Apitegromab for infants under 2 with spinal muscular atrophy

  This trial will test whether adding apitegromab to approved SMA therapy helps infants under 2 with 5q SMA reach better motor milestones.

  Recruiting at 23 sites Phase 2 Scholar Rock, Inc. · Phoenix, Arizona and 22 other locations · NCT07047144

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.