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| ID | Type | Description | Link |
|---|---|---|---|
| 2017-A02291-52 | Other Identifier | ANSM (French Regulatory Authority) |
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IO-SMA-Registry is a prospective, longitudinal and observational study which objective is to collect prospectively information on longevity, psychomotor development and respiratory function of patients with infantile-onset spinal muscular atrophy.
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| Measure | Description | Time Frame |
|---|---|---|
| Change from Baseline in survival | Baseline and then every 6 months until the end of the study, up to 5 years | |
| Change from Baseline in psychomotor development | Motor milestones acquired and/or lost | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline in the number of lower track infections | Baseline and then every 6 months until the end of the study, up to 5 years | |
| Change from Baseline in ventilation use | Baseline and then every 6 months until the end of the study, up to 5 years | |
| Change from Baseline in cough assist use | Baseline and then every 6 months until the end of the study, up to 5 years | |
| Change from Baseline in Forced Vital Capacity | Baseline and then every 6 months until the end of the study, up to 5 years | |
| Change from Baseline in diurnal saturation | Baseline and then every 6 months until the end of the study, up to 5 years | |
| Change from Baseline in nocturnal hypercapnia | Baseline and then every 6 months until the end of the study, up to 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| Change from the beginning of the treatment of psychomotor development | Retrospective and prospective collection of data from patients/parents interview and medical files Motor milestones acquired and/or lost | Since the beginning of the treatment until the end of the study, up to 5 years |
| Change from the beginning of the treatment of the number of hospitalizations |
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Inclusion Criteria:
Exclusion Criteria:
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Neuromuscular reference centers
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| Name | Affiliation | Role |
|---|---|---|
| Laurent Servais, MD, PhD | Institute of Myology | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hopital Morvan - CHU de Brest | Brest | France | ||||
| Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant |
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| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| D009468 | Neuromuscular Diseases |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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Retrospective and prospective collection of data from patients/parents interview and medical files |
| Since the beginning of the treatment until the end of the study, up to 5 years |
| Change from the beginning of the treatment of the duration of hospitalizations | Retrospective and prospective collection of data from patients/parents interview and medical files | Since the beginning of the treatment until the end of the study, up to 5 years |
| Change from Baseline of Clinical Global Impressions - Improvement (CGI-I) | Quantification of patient progress and treatment response over time | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of the scoliosis occurence | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of the arthrodesis occurence | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of contractures occurrence | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of wheelchair use | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of feeding status | Feeding difficulties (swallowing, chewing, sucking), excessive drooling, need of a feeding tube, occurrence of gastrostomy | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of speech impairment | Speech incapacity, voice tone disorders | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of Hammersmith Infant Neurological Examination (HINE) score | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of Motor Function Measure (MFM) score | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of Expanded Hammersmith Functional Motor Scale (HFMSE) score | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of the number of physiotherapy sessions per week | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of the number of balneotherapy sessions per week | Baseline and then every 6 months until the end of the study, up to 5 years |
| Change from Baseline of the number of occupational therapy sessions per week | Baseline and then every 6 months until the end of the study, up to 5 years |
| Bron |
| France |
| Hôpital le Bocage - CHU Dijon | Dijon | France |
| Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro | Lille | France |
| I-Motion Institute | Paris | France |
| Unité de neurologie pédiatrique - Hôpital des enfants | Toulouse | France |
| D019636 | Neurodegenerative Diseases |