Characterization of New Phenotypes of Patients with Spinal Muscular Atrophy Treated with SMN Restoring Therapy

Launched by HOSPICES CIVILS DE LYON · Mar 14, 2024

Keywords

ClinConnect Summary

This clinical trial is exploring new ways to understand and monitor children with Spinal Muscular Atrophy (SMA) who are receiving treatments that help restore a protein crucial for muscle function. The researchers want to see how these treatments affect different types of SMA in children aged 0 to 15 over a period of two years. They will also evaluate different tools to measure the effectiveness of these treatments and gather information about the costs associated with SMA in France, aiming to improve future care and support for patients.

To participate in this study, children must have a confirmed diagnosis of SMA and be receiving a treatment that restores the SMN protein, such as nusinersen or risdiplam. Parents or guardians will need to provide consent, and participants must be covered by a health insurance plan. Throughout the trial, children will have regular check-ups to monitor their health, and although some may need MRI scans, those who cannot undergo this procedure for specific reasons can still take part in the study. This trial aims to provide valuable insights that could enhance the understanding of SMA and improve treatment approaches for future patients.

Gender

ALL

Eligibility criteria

• 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.