Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| IDRCB-2014-A01263-44 | Other Identifier | ANSM (French Regulatory Authority) |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Institut Roche | UNKNOWN |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Strength, function and activity measurements | Other | |||
| Muscle MRI | Other | |||
| Electrophysiology measurements | Other | |||
| Blood sampling for biomarker analysis | Other |
| Measure | Description | Time Frame |
|---|---|---|
| Change from baseline of muscle strength | Study-specific assessments: Grip and pinch strength | 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) | Baseline and then every 6 months until end of the study, up to 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| Change from baseline of respiratory function | Study-specific assessments: Pulmonary function tests | 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 |
Not provided
INCLUSION CRITERIA
EXCLUSION CRITERIA
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Laurent Servais, MD | Association Institut de Myologie | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven | Leuven | Belgium | ||||
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30048507 | Derived | Chabanon A, Seferian AM, Daron A, Pereon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One. 2018 Jul 26;13(7):e0201004. doi: 10.1371/journal.pone.0201004. eCollection 2018. |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Quantity and duration of movements, time of inactivity during the day
| 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) | 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 | Baseline and then every 6 months until end of the study, up to 24 months |
| 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) | Baseline and then every 6 months until end of the study, up to 24 months |
| Centre de Référence neuromusculaire - CHR La Citadelle |
| Liège |
| 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 |
| 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 |
| ID | Term |
|---|---|
| D014897 | Spinal Muscular Atrophies of Childhood |
| D009134 | Muscular Atrophy, Spinal |
| D009468 | Neuromuscular Diseases |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D016472 | Motor Neuron Disease |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Not provided
Not provided
| ID | Term |
|---|---|
| D000085542 | Functional Status |
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D000203 | Activities of Daily Living |
| D012046 | Rehabilitation |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D006304 | Health Status |
| D003710 | Demography |
| D015991 | Epidemiologic Measurements |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
Not provided
Not provided