Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy

Not Applicable

Completed

• Conditions: Type 2 Spinal Muscular Atrophy; Type 3 Spinal Muscular Atrophy

• Registration Number: NCT02391831
• Lead Sponsor: Institut de Myologie, France

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2015-03-02
• Study First Submitted QC: 2015-03-12
• Study First Posted: 2015-03-18
• Study Start: 2015-05
• Primary Completion: 2018-06
• Study Completion: 2018-06
• Status Verified: 2018-07
• Last Update Submitted: 2018-07-17
• Last Update Posted: 2018-07-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 81

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Change from baseline of muscle strength	Baseline and then every 6 months until end of the study, up to 24 months	Study-specific assessments: Grip and pinch strength
Change from baseline of motor function	Baseline and then every 6 months until end of the study, up to 24 months	Study-specific assessments: Moviplate and MFM scores, upper extremity functional reaching volume, timed tests (time to rise from floor, time to walk 10 meters, time to climb and descend stairs, distance walked on the Six-Minute Walk Test)

Secondary Outcome Measures

Name	Time	Method
Change from baseline of physical activity of upper limbs movements	Baseline and then every 6 months until end of the study, up to 24 months	Quantity and duration of movements, time of inactivity during the day
Change from baseline of Biomarkers of SMA progression	Baseline and then every 6 months until end of the study, up to 24 months	SMN mRNA and protein analysis, SMA exploratory biomarkers (e.g. mRNA, DNA profiling, RNA profiling, proteomic profiling)
Change from baseline of respiratory function	Baseline and then every 6 months until end of the study, up to 24 months	Study-specific assessments: Pulmonary function tests
Change from baseline of skeletal muscle nuclear magnetic resonance (NMR) imaging (MRI)	Baseline and then every 12 months until the end of the study, up to 24 months	Muscle volume changes, intramuscular fatty infiltration progression, indices of disease activity (only for Paris and Strasbourg sites and for patients older than 4 years)
Change from baseline of electrophysiology measurements	Baseline and then every 6 months until end of the study, up to 24 months	Compound Motor Action Potential (CMAP) Amplitude and Decrement search

Trial Locations

Locations (9)

Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven; 🇧🇪 Leuven, Belgium

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

Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro; 🇫🇷 Lille, France

Centre de référence Maladies Neuromusculaires Nantes-Angers - Hôtel Dieu; 🇫🇷 Nantes, France

I-Motion Institute - Trousseau Hospital; 🇫🇷 Paris, France

Unité de neurologie pédiatrique - Hôpital des enfants; 🇫🇷 Toulouse, France

Universitätsklinikum Essen (AöR) - Klinik für Kinderheilkunde I - Sozialpädiatrisches Zentrum; 🇩🇪 Essen, Germany

Neuropédiatrie - Service de Pédiatrie 1 - CHU Hautepierre; 🇫🇷 Strasbourg, France

Centre de Référence neuromusculaire - CHR La Citadelle; 🇧🇪 Liege, Belgium