European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

Study Overview
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Brief Summary
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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.

Official Title
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European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

Conditions
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Spinal Muscular Atrophy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Spinal Muscular Atrophy diagnosed in childhood (before 18 months) and genetically confirmed. For patients with SMA type 1: Never acquired independent sitting position (more than 30 seconds, without hand support or any external support) For patients with SMA type 2 or 3: Patient treated with a market approved treatment for SMA or with a treatment in an expanded access program Any age Patients over 18 years of age or parent(s)/legal guardian(s) of patients < 18 years of age not opposed to data collection for research purposes Exclusion Criteria: None
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | 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 | 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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SMA, Spinal Muscular Atrophy, Neuromuscular disease, Spinraza