European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

Institut de Myologie, France100 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

Spinal Muscular Atrophy

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (6)

Hopital Morvan - CHU de Brest

Brest, France

Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant

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

Outcomes

Primary Outcomes

Change from Baseline in survival

Time frame: 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

Time frame: 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

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Change from Baseline in ventilation use

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Change from Baseline in cough assist use

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Change from Baseline in Forced Vital Capacity

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Change from Baseline in diurnal saturation

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Change from Baseline in nocturnal hypercapnia

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Secondary Outcomes

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

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.

I-Motion Institute

Paris, France

Unité de neurologie pédiatrique - Hôpital des enfants

Toulouse, France

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Change from Baseline of the scoliosis occurence

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Change from Baseline of the arthrodesis occurence

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Change from Baseline of contractures occurrence

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Change from Baseline of wheelchair use

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: Baseline and then every 6 months until the end of the study, up to 5 years