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| ID | Type | Description | Link |
|---|---|---|---|
| N° IDRCB: 2019-A01161-56 | Other Identifier | ANSM |
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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.
As secondary objectives, the study aims:
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Motor function scores |
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Frequency | Frequencies of patients with SMA 5q of type 1,2,3 and 4 cared in the reference centres between September 1 2016 and August 31 2024. | through study completion, an average of 9 year |
| Responses to the treatments (nusinersen and salbutamol) |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Susana Quijano-Roy, MD, PhD | Contact | +33147107890 | susana.quijano-roy@aphp.fr |
| Name | Affiliation | Role |
|---|---|---|
| Susana Quijano-Roy, MD, PhD | Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, Hôpital Raymond Poincaré, 92380 Garches, FRANCE | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, (French neuromuscular reference network (FILNEMUS), Hôpital Raymond Poincaré, | Recruiting | Garches | 92380 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 40625130 | Derived | 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. | |
| 40212804 |
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| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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Blood sampling for biomarkers, with DNA.
| 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 |
Responses of the primary outcome measures to the therapies (salbutamol, nusinersen, onasemnogene, risdiplam)
| 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year |
| Spinal status | Evolution of scoliosis (Cobb angle) in the preoperative period (patients treated vs not treated with Garches brace): first and last Cobb angle (and ages) | 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 | Impact of spinal surgery techniques in scoliosis (presurgical and last post surgical Cobb angle) | 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year |
| Mortality | For treated and untreated patients. Rate of mortality will be assessed at 1,2 and 5 years. | at 1, 2 and 5 years |
| Pulmonary function | Forced vital capacity (FVC) will be evaluated at least once per year for children > 5 years, by specifying the posture of realization of the test, lying vs sitting. | at 6 months |
| Respiratory muscles performance | Peak expiratory and inspiratory pressures will be evaluated if possible for children > 5 years (MEP, MIP, PF, SNIP (sniff nasal inspiratory pressure) | at 6 months |
| Pulmonary function | PCF (peak cough flow) will be evaluated at least once per year for children > 5 years, by specifying the posture of realization of the test, lying vs sitting. | at 6 months |
| Cardiological parameter | ECG abnormality will be evaluated by Holter ECG 24h: P Wave, QRS Complex, QT Interval | through study completion, an average of 9 year |
| Cardiological function and anatomy | Anatomic abnormalities will be evaluated by echocardiography. | through study completion, an average of 9 year |
| Biomarkers | Change of biomarkers: Neurofilaments and CPK | baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year |
| Patient's quality of life: PedsQL (Pediatric Quality of Life Inventory) Child report | Questionary as the "PedsQL Child report" will be used to evaluate patient's quality of life. Total Scale Score: 0.88 Child Self-Report; 0.90 Parent Proxy-Report. | baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year |
| Patient's quality of life: PedsQL parent report concerning child | Questionary as the "PedsQL parent report concerning child" will be used to evaluate patient's quality of life. Total Scale Score: 0.88 Child Self-Report; 0.90 Parent Proxy-Report. | baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year |
| Patient's quality of life: QoL-gNMD for adult | Questionary as "QoL-gNMD for adult" (Quality of Life in genetic Neuromuscular Disease) will be used to evaluate patient's quality of life. | baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year |
| Caregiver burden assessement | Questionnaire as "Work Productivity and Activity Impairment Questionnaire SMAv2" will be completed once a year by a member of neuromuscular center or patients or their relatives. | at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year |
| Caregiver burden assessement | Questionnaire as "FICD+4 Burden Interview Questionnaire" will be completed once a year by a member of neuromuscular center or patients or their relatives. FICD (Family Impact of Childhood Disability)+4 Burden Interview Questionnaire: the multidimensional measurements to assess the impacts on time, expenses, work, relationships and health of caregiver. | at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year |
| 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. |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |