French Register of Patients With Spinal Muscular Atrophy

NCT04177134 | Recruiting

• 2 other identifiers: APHP190245N° IDRCB: 2019-A01161-56
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Spinal Muscular Atrophy

Keywords

spinal muscular atrophy

Outcome Measures

Primary Outcomes (6)

• Motor functional development or status

  * 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)

  baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year

• Motor function scores

  * 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)

  baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year

• Yearly changes of morbi-mortality-vital events

  Events of hospitalizations, recurrent infections, fractures, complications and death.

  9 years

• Respiratory events

  Onset of respiratory support or change in the mode and time (including intubations).

  baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year

• Digestive-nutritional events

  Digestive events, onset of nutritional support or change in the mode and time

  baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year

• Yearly changes of spinal events

  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)

  9 years

Secondary Outcomes (16)

• Frequency

  through study completion, an average of 9 year

• Responses to the treatments (nusinersen and salbutamol)

  1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year

• Spinal status

  1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year

• Impact of spinal surgery techniques in scoliosis

  1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year

• Mortality

  at 1, 2 and 5 years

Eligibility Criteria

• Age: 0 Days+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

1000 SMA 5q patients of type 1, 2, 3 and 4, followed or diagnosed between September 1, 2016 and August 31, 2024. It is estimated that approximately 50% of patients will be children.

You may qualify if:

• Genetically confirmed SMA 5q patients through 1 to 4 types treated in reference centers in France between September 1, 2016 and August 31, 2024.
• for prospective study: inform consent form signed by patient.
• for retrospective data: information form with non-opposition have been given to participant.
• Covered by a health insurance.

You may not qualify if:

• Other type of SMA (not 5q).
• Under guardianship or curatorship.
• Unable to understand french language.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, (French neuromuscular reference network (FILNEMUS), Hôpital Raymond Poincaré,

Garches, 92380, France

RECRUITING

Related Publications (2)

• Grimaldi L, Garcia-Uzquiano R, de la Banda MG, Oulhissane-Omar A, Tard C, Saugier-Veber P, Laugel V, Desguerre I, Cintas P, Vuillerot C, Audic F, Cances C, Stojkovic T, Urtizberea JA, Attarian S, Ropars J, Quijano-Roy S; Registre SMA France Study Group. REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France. J Neuromuscul Dis. 2025 Nov;12(6):793-803. doi: 10.1177/22143602251353446. Epub 2025 Jul 8.

  PMID: 40625130 DERIVED

• Gerin L, Ropars J, Garcia-Uzquiano R, Gomez-Garcia De la Banda M, Saugier-Veber P, Desguerre I, Salort-Campana E, Espil C, Barnerias C, Laugel V, Cances C, Audic F, Cintas P, Le Goff L, Mallaret M, Nougues MC, Drunat S, Tard C, Grimaldi L, Quijano-Roy S; R-SMA Study Group (FILNEMUS). Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France. Neurol Genet. 2025 Apr 1;11(2):e200222. doi: 10.1212/NXG.0000000000200222. eCollection 2025 Apr.

  PMID: 40212804 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood sampling for biomarkers, with DNA.

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Susana Quijano-Roy, MD, PhD

  Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, Hôpital Raymond Poincaré, 92380 Garches, FRANCE

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Susana Quijano-Roy, MD, PhD

CONTACT

+33147107890; susana.quijano-roy@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 9 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 26, 2019
• First Posted: November 26, 2019
• Study Start: January 31, 2020
• Primary Completion (Estimated): January 31, 2029
• Study Completion (Estimated): January 31, 2029
• Last Updated: April 6, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)