European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

NCT03339830 | Completed

• 2 other identifiers: IO-SMA-Registry2017-A02291-52
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 6

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.

Conditions

Spinal Muscular Atrophy

Keywords

SMA; Spinal Muscular Atrophy; Neuromuscular disease; Spinraza

Outcome Measures

Primary Outcomes (8)

• 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 Outcomes (17)

• 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

• 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

• 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

• 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

• Change from Baseline of the scoliosis occurence

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Neuromuscular reference centers

You may qualify if:

• 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

You may not qualify if:

• None

Sponsors & Collaborators

• Institut de Myologie, France: lead

Study Sites (6)

Hopital Morvan - CHU de Brest

Brest, France

Location

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

Bron, France

Location

Hôpital le Bocage - CHU Dijon

Dijon, France

Location

Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro

Lille, France

Location

I-Motion Institute

Paris, France

Location

Unité de neurologie pédiatrique - Hôpital des enfants

Toulouse, France

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases

Study Officials

• Laurent Servais, MD, PhD

  Institute of Myology

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 18, 2017
• First Posted: November 13, 2017
• Study Start: October 10, 2017
• Primary Completion: November 15, 2020
• Study Completion: November 15, 2020
• Last Updated: September 13, 2021

Record last verified: 2021-09

Locations

FR (6)