European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

Spinal Muscular Atrophy Clinical Trial

Official title:

European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03339830
• Other study ID #: IO-SMA-Registry
• Secondary ID: 2017-A02291-52
• Status: Completed
• Start date: October 10, 2017
• Est. completion date: November 15, 2020

Study information

• Verified date: September 2021
• Source: Institut de Myologie, France
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 100
• Est. completion date: November 15, 2020
• Est. primary completion date: November 15, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

Locations

Country	Name	City	State
France	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	I-Motion Institute	Paris
France	Unité de neurologie pédiatrique - Hôpital des enfants	Toulouse

Sponsors (1)

Lead Sponsor	Collaborator
Institut de Myologie, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change from Baseline in survival		Baseline and then every 6 months until the end of the study, up to 5 years
Primary	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
Primary	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
Primary	Change from Baseline in ventilation use		Baseline and then every 6 months until the end of the study, up to 5 years
Primary	Change from Baseline in cough assist use		Baseline and then every 6 months until the end of the study, up to 5 years
Primary	Change from Baseline in Forced Vital Capacity		Baseline and then every 6 months until the end of the study, up to 5 years
Primary	Change from Baseline in diurnal saturation		Baseline and then every 6 months until the end of the study, up to 5 years
Primary	Change from Baseline in nocturnal hypercapnia		Baseline and then every 6 months until the end of the study, up to 5 years
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	Change from Baseline of the scoliosis occurence		Baseline and then every 6 months until the end of the study, up to 5 years
Secondary	Change from Baseline of the arthrodesis occurence		Baseline and then every 6 months until the end of the study, up to 5 years
Secondary	Change from Baseline of contractures occurrence		Baseline and then every 6 months until the end of the study, up to 5 years
Secondary	Change from Baseline of wheelchair use		Baseline and then every 6 months until the end of the study, up to 5 years
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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