Overview

This trial is active, not recruiting.

Conditions type 2 spinal muscular atrophy, type 3 spinal muscular atrophy
Treatments strength, function and activity measurements, muscle mri, electrophysiology measurements, blood sampling for biomarker analysis
Sponsor Institut de Myologie, France
Collaborator Institut Roche de Recherche et Médecine Translationnelle
Start date May 2015
End date May 2017
Trial size 81 participants
Trial identifier NCT02391831, IDRCB-2014-A01263-44, NatHis-SMA

Summary

NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well as determine the best outcome measures for further therapeutics approaches.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Intervention model single group assignment
Masking open label
Primary purpose basic science

Primary Outcomes

Measure
Change from baseline of muscle strength
time frame: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of motor function
time frame: Baseline and then every 6 months until end of the study, up to 24 months

Secondary Outcomes

Measure
Change from baseline of respiratory function
time frame: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of physical activity of upper limbs movements
time frame: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of skeletal muscle nuclear magnetic resonance (NMR) imaging (MRI)
time frame: Baseline and then every 12 months until the end of the study, up to 24 months
Change from baseline of electrophysiology measurements
time frame: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of Biomarkers of SMA progression
time frame: Baseline and then every 6 months until end of the study, up to 24 months

Eligibility Criteria

Male or female participants from 2 years up to 30 years old.

INCLUSION CRITERIA - Type 2 or 3 spinal muscular atrophy genetically confirmed - Age superior or equal to 2 years old up to 30 years of age included - For patients older than 6 years old, willing and able to comply with all protocol requirements and procedures. - For non-ambulant patients, able to sit upright in a wheelchair for at least three hours - Patients over 18 years of age and parent(s)/legal guardian(s) of patients < 18 years of age must provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation. - In France only: Affiliated to or a beneficiary of a social security category EXCLUSION CRITERIA - Previously treated with an investigational drug within 6 months prior the recruitment in this study. - Other condition which may significantly interfere with the assessment of the SMA and is clearly not related to the disease - Current or anticipated participation in any therapeutic investigational clinical studies. - Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia, and others deemed to be prohibitive by the investigators) will be allowed to participate, but MRI will not be performed. - For women : pregnancy or current breastfeeding

Additional Information

Official title Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
Principal investigator Laurent Servais, MD
Trial information was received from ClinicalTrials.gov and was last updated in May 2016.
Information provided to ClinicalTrials.gov by Institut de Myologie, France.