Characterizing new patient types with spinal muscular atrophy treated with SMN 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 study aims to characterize new phenotypes of patients with spinal muscular atrophy (SMA) who are being treated with therapies that restore SMN protein expression, such as nusinersen, risdiplam, and onasemnogene abeparvovec. It will involve prospectively following children under 16 years old with genetically confirmed SMA for two years, evaluating their muscle function, cognitive abilities, and cardiac health. Additionally, the study will assess the relevance of various assessment tools for monitoring this population and collect data on the economic impact of SMA treatment in France.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Genetically confirmed infantile or juvenile spinal muscular atrophy
* Treated with a therapy that restores SMN protein expression (e.g. nusinersen, risdiplam, onasemnogene abeparvovec)
* Aged 0 to 15 years inclusive
* Informed consent signed by both parent(s)/legal guardian(s) and patient's assent
* Affiliated or beneficiary of a health insurance plan\*. \* for inclusion in France

Exclusion Criteria:

* Other condition likely to interfere significantly with ASI assessment and clearly unrelated to the disease
* Other associated neurological disease
* Current pregnancy or breast-feeding (a pregnancy test will also be performed at inclusion).

Please note that patients with a specific contraindication to MRI (i.e. metallic foreign body, claustrophobia and other reasons determined by the investigators) will be allowed to participate in the study, but MRI will not be performed.

Where it's running

• Pediatric Rehabilitation Service - L'Escale Mother and Child Hospital
  Bron, Rhone, France Recruiting
• CHRU of Brest
  Brest, France Not yet recruiting
• Pediatric Neurology and Resuscitation Raymond-Poincare Hospital
  Garche, France Not yet recruiting
• Pediatric Neurology Swynghedauw Hospital
  Lille, France Not yet recruiting
• Marseille University Hospital - Timone Hospital Department of Pediatric Neurology - Specialized Pediatrics and Child Medicine
  Marseille, France Not yet recruiting
• I-Motion Pediatric Clinical Trial Platform Armand Trousseau Hospital
  Paris, France Not yet recruiting

Study contacts

• Study coordinator: Laure LE GOFF, PI
• Email: laure.le-goff@chu-lyon.fr
• Phone: 04.72.12.95.04

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

  This registry collects information on pregnancies where a fetus diagnosed with spinal muscular atrophy was treated with a disease‑modifying therapy in the womb to see how the pregnancy and baby fare after birth.

  Recruiting St. Jude Children's Research Hospital · Memphis, Tennessee · NCT07805278

• Intrathecal Zolgensma in spinal muscular atrophy patients in Japan

  This study tests the safety and real‑world effectiveness of intrathecal onasemnogene abeparvovec in SMA patients in Japan.

  Recruiting at 4 sites Novartis · Toyoake, Aichi-ken and 3 other locations · NCT07767890

• Spinal muscular atrophy patients get a single intrathecal gene therapy dose to see how it works in real-world U.S. settings

  This study tests whether a one-time intrathecal dose of ITVISMA® (onasemnogene abeparvovec-brve) is safe and effective for SMA patients in real-world U.S. clinical practice.

  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

  This trial tests whether salanersen helps movement and is safe for people aged 15 to 60 with spinal muscular atrophy who are either new to treatment or have taken risdiplam.

  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.