Spinal Muscular Atrophy
Conditions
Keywords
SMA, Spinal Muscular Atrophy, Neuromuscular disease, Spinraza
Brief summary
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.
Interventions
None listed
Sponsors
Institut de Myologie, France
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 | Baseline and then every 6 months until the end of the study, up to 5 years | Motor milestones acquired and/or lost |
| 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
| Measure | Time frame | Description |
|---|---|---|
| Change from the beginning of the treatment of psychomotor development | Since the beginning of the treatment until the end of the study, up to 5 years | Retrospective and prospective collection of data from patients/parents interview and medical files Motor milestones acquired and/or lost |
| Change from the beginning of the treatment of the number of hospitalizations | Since the beginning of the treatment until the end of the study, up to 5 years | Retrospective and prospective collection of data from patients/parents interview and medical files |
| Change from the beginning of the treatment of the duration of hospitalizations | Since the beginning of the treatment until the end of the study, up to 5 years | Retrospective and prospective collection of data from patients/parents interview and medical files |
| Change from Baseline of Clinical Global Impressions - Improvement (CGI-I) | Baseline and then every 6 months until the end of the study, up to 5 years | Quantification of patient progress and treatment response over time |
| Change from Baseline of feeding status | Baseline and then every 6 months until the end of the study, up to 5 years | Feeding difficulties (swallowing, chewing, sucking), excessive drooling, need of a feeding tube, occurrence of gastrostomy |
| 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 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 | — |
| 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 speech impairment | Baseline and then every 6 months until the end of the study, up to 5 years | Speech incapacity, voice tone disorders |
| 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 wheelchair use | Baseline and then every 6 months until the end of the study, up to 5 years | — |
Countries
France
Outcome results
None listed