Study of New Types of Spinal Muscular Atrophy in Children Under 16 Treated with SMN Restoring Therapy

What this Trial Is About

Researchers are studying children under 16 years old with spinal muscular atrophy SMA who are treated with therapies that restore SMN protein, such as nusinersen, risdiplam, or onasemnogene abeparvovec. The goal is to describe new types of SMA in these treated patients over two years, evaluate tools used to monitor the disease, and collect information on the overall costs associated with SMA in France. Participants receive SMN restoring therapies and are followed for two years with regular assessments every six months. These evaluations include muscle function tests, cognitive assessments, cardiac checks, MRI scans when possible, fatigue and activity monitoring, bulbar function tests, body composition and metabolism measurements, questionnaires on quality of life, and optional blood and cerebrospinal fluid sample collections. The study tracks disease progression at muscular, cognitive, orthopedic, respiratory, metabolic, cardiac, and bulbar levels. During the study, participants undergo various tests and questionnaires at multiple time points from the start up to 24 months. These include muscle strength measurements, developmental and behavioral assessments, heart exams, body scans, fatigue monitoring, swallowing evaluations, and quality of life surveys. Optional biological samples are collected periodically. The study carefully records disease markers and functional changes while monitoring participants wellbeing and impact on families throughout the two-year period.

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