French Register of Patients With Spinal Muscular Atrophy

Condition(s) studied

Study summary

The primary objectives of the study are to obtain clinically meaningful data on survival and outcomes of all the patients with spinal muscular atrophy (SMA) 5q types 1 through 4 (according to international classification), being followed in the reference centers of the disease in France between September 1, 2016 and August 31, 2024. The registry will collect retrospectively and prospectively the longitudinal data of the long-term follow-up for child and adult patients, under real life conditions of current medical practice, in order to document the clinical evolution of patients (survival, motor, respiratory, orthopedic and nutritional), the conditions of use of the treatments, the mortality rates of treated and untreated patients, the tolerance of the treatments, adverse events in order to better define their places in the therapeutic strategy.

Eligibility

Primary outcome measure(s)

• Motor functional development or status — baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
  * SMA Type 1 until 2 years of age: change of HINE (Hammersmith Infant Neurological Examination) score * Children: change in Vignos and Brooke scores (level of upper and Lower extremities autonomy) * Adults: change in Walton \& Boston scores (level of upper and Lower extremities autonomy)
• Motor function scores — baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
  * For children ≤ 2 years: change of CHOP INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) score will be evaluated * For children between 2 and 5 years, ambulatory or not: Change of total MFM-20 (Motor Function Measure 20) score will be evaluated. Change of 3 dimension scores will be evaluated: D1 (start and transfers station), D2 (axial and proximal motricity) and D3 (distal including the upper limb) * For children children \> 6 years and adults, ambulatory or not: Change of total MFM-32 (Motor Function Measure 32) score will be evaluated. Change of 3 dimension scores will be evaluated: D1 (start and transfers station), D2 (axial and proximal motricity) and D3 (distal including the upper limb). * For ambulatory individuals: added 6MWT (6 minutes walking test)
• Yearly changes of morbi-mortality-vital events — 9 years
  Events of hospitalizations, recurrent infections, fractures, complications and death.
• Respiratory events — baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
  Onset of respiratory support or change in the mode and time (including intubations).
• Digestive-nutritional events — baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
  Digestive events, onset of nutritional support or change in the mode and time
• Yearly changes of spinal events — 9 years
  Onset of spinal deformity, or increment of 5° or more in the Cobb angle (examination in supine position without brace ; if sitting possible, examination in the upright position, with or without brace or with or without implant (surgery)

Trial sites (1)

More Assistance Publique - Hôpitaux de Paris trials in France

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