European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

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 Overview

• Status: Completed
• Conditions: Spinal Muscular Atrophy

• Study Type: Observational
• Enrollment (Actual): 100

Contacts and Locations

Study Locations

• France
  • Brest, France
    • Hopital Morvan - CHU de Brest
  • Bron, France
    • Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant
  • Dijon, France
    • Hôpital le Bocage - CHU Dijon
  • Lille, France
    • Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro
  • Paris, France
    • I-Motion Institute
  • Toulouse, France
    • Unité de neurologie pédiatrique - Hôpital des enfants

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Neuromuscular reference centers

Description

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 Plan

How is the study designed?

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Institut de Myologie, France
• Investigators: Principal Investigator: Laurent Servais, MD, PhD, Institute of Myology

Study record dates

Study Major Dates

• Study Start (ACTUAL): October 10, 2017
• Primary Completion (ACTUAL): November 15, 2020
• Study Completion (ACTUAL): November 15, 2020

Study Registration Dates

• First Submitted: October 18, 2017
• First Submitted That Met QC Criteria: November 7, 2017
• First Posted (ACTUAL): November 13, 2017

Study Record Updates

• Last Update Posted (ACTUAL): September 13, 2021
• Last Update Submitted That Met QC Criteria: September 10, 2021
• Last Verified: September 1, 2021

More Information

Terms related to this study

• Keywords: Spinal Muscular Atrophy; SMA; Spinraza; Neuromuscular disease
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: IO-SMA-Registry; 2017-A02291-52 (OTHER: ANSM (French Regulatory Authority))

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No