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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Enrollment
81
Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven
Leuven, Belgium
Centre de Référence neuromusculaire - CHR La Citadelle
Liège, Belgium
Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant
Bron, France
Change from baseline of muscle strength
Study-specific assessments: Grip and pinch strength
Time frame: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of motor function
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)
Time frame: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of respiratory function
Study-specific assessments: Pulmonary function tests
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
Quantity and duration of movements, time of inactivity during the day
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)
Muscle volume changes, intramuscular fatty infiltration progression, indices of disease activity (only for Paris and Strasbourg sites and for patients older than 4 years)
Time frame: Baseline and then every 12 months until the end of the study, up to 24 months
Change from baseline of electrophysiology measurements
Compound Motor Action Potential (CMAP) Amplitude and Decrement search
Time frame: Baseline and then every 6 months until end of the study, up to 24 months
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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
Neuropédiatrie - Service de Pédiatrie 1 - CHU Hautepierre
Strasbourg, France
Unité de neurologie pédiatrique - Hôpital des enfants
Toulouse, France
Universitätsklinikum Essen (AöR) - Klinik für Kinderheilkunde I - Sozialpädiatrisches Zentrum
Essen, Germany
Change from baseline of Biomarkers of SMA progression
SMN mRNA and protein analysis, SMA exploratory biomarkers (e.g. mRNA, DNA profiling, RNA profiling, proteomic profiling)
Time frame: Baseline and then every 6 months until end of the study, up to 24 months