European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

Completed

• Conditions: Spinal Muscular Atrophy

• Registration Number: NCT03339830
• Lead Sponsor: Institut de Myologie, France

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2017-10-10
• Study First Submitted: 2017-10-18
• Study First Submitted QC: 2017-11-07
• Study First Posted: 2017-11-13
• Primary Completion: 2020-11-15
• Study Completion: 2020-11-15
• Status Verified: 2021-09
• Last Update Submitted: 2021-09-10
• Last Update Posted: 2021-09-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 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 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 Forced Vital Capacity	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

Name	Time	Method
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 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 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 the scoliosis occurence	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 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 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 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 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 Baseline of contractures occurrence	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 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 balneotherapy sessions per week	Baseline and then every 6 months until the end of the study, up to 5 years
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 number of physiotherapy sessions per week	Baseline and then every 6 months until the end of the study, up to 5 years

Trial Locations

Locations (6)

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

Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant; 🇫🇷 Bron, France

Hopital Morvan - CHU de Brest; 🇫🇷 Brest, France

Hôpital le Bocage - CHU Dijon; 🇫🇷 Dijon, France