protocolSection identificationModule nctId: NCT06321965, orgStudyIdInfo id: 69HCL22_0599, briefTitle: Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy, acronym: PHENO SMART, statusModule overallStatus: NOT_YET_RECRUITING, startDateStruct date: 2024-04-01, primaryCompletionDateStruct date: 2027-10-01, completionDateStruct date: 2027-10-01, studyFirstPostDateStruct date: 2024-03-20, lastUpdatePostDateStruct date: 2024-03-20, sponsorCollaboratorsModule leadSponsor name: Hospices Civils de Lyon, class: OTHER, descriptionModule briefSummary: With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years.The investigators also propose to evaluate potential assessment tools to determine whether they are relevant for monitoring this population, either routinely or for future clinical trials. The investigators also aim to collect the total costs associated with ASI in order to propose a first prospective medico-economic study in France., conditionsModule conditions: Spinal Muscular Atrophy, designModule studyType: INTERVENTIONAL, phases: NA, designInfo allocation: NA, interventionModel: SINGLE_GROUP, interventionModelDescription: Prospective, longitudinal, multicenter, international study, primaryPurpose: OTHER, maskingInfo masking: NONE, enrollmentInfo count: 60, type: ESTIMATED, armsInterventionsModule interventions name: evaluation of muscle function, interventions name: First-line cognitive assessment, interventions name: second-line cognitive assessment, interventions name: Cardiac evaluation, interventions name: MRI, interventions name: Assessment of activity and muscle fatigue, interventions name: Assessment of bulbar function, interventions name: Evaluation of body composition and metabolism, interventions name: Questionnaires, interventions name: Biocollection, interventions name: Skinfold measurement, outcomesModule primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at : muscular and functional, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at : muscular and functional, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at : muscular and functional, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at : muscular and functional, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at : muscular and functional, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at : Fatigue, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at : Fatigue, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at : Fatigue, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at Orthopaedic level, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at Orthopaedic level, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at Orthopaedic level, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the cognitive level: Vineland-II, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the cognitive level: Bayley-4, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the cognitive level: BRIEF (Behavioral Rating Inventory of Executive Function), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the cognitive level: Conners-3, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the cognitive level: CELF-5 (Language and communication assessment battery), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the cognitive level: EQ (Empathy quotient), AQ (Autism Quotient), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the cognitive level: M-CHAT-R (Modified Checklist for Autism in Toddlers), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the cognitive level: SRS-2 (Social Responsiveness Scale, Second Edition), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the cognitive level: PVSE (Basic visuo-spatial perception), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the brain level, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at Cardiology level, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at metabolic level : Anthropometric measurement trends, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at metabolic level :, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at metabolic level : fractures, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at metabolic level : renal ultrasound, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at metabolic level : Absorptiometry (DXA), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at metabolic level: Calorimetry, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at metabolic level : Impedancemetry, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at metabolic level : Fibroscan, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at biological analysis, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at In terms of quality of life and autonomy, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at In terms of quality of life and autonomy, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at respiratory level : Chest/head circumference ratio (PT/PC ratio) (up to 3 years), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at respiratory level : Chest/head circumference ratio (PT/PC ratio), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at respiratory level : O2 saturation and nocturnal TcPCO2, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at respiratory level: Respiratory function tests (≥ 6 years), primaryOutcomes measure: Markers of disease progression at respiratory level, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at bulbar level (Evaluation of dysphagia and dysarthria): DDD-pNMD (Diagnostic list for Dysphagia and Dysarthria in pediatric NeuroMuscular Disorders), primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at bulbar level (Evaluation of dysphagia and dysarthria): NdSSS (Neuromuscular Disease Swallowing Status Scale)., primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the level of Characteristics at inclusion: age of patient, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the level of Characteristics at inclusion : patient gender, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the level of Characteristics at inclusion: SMA TYPE, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the level of Characteristics at inclusion: number of copy, primaryOutcomes measure: Markers of disease progression and description of different phenotypes, at the level of Characteristics at inclusion: treatment, eligibilityModule sex: ALL, minimumAge: 0 Years, maximumAge: 16 Years, stdAges: CHILD, contactsLocationsModule locations facility: Pediatric Rehabilitation Service - L'Escale Mother and Child Hospital, city: Bron, state: Rhone, zip: 69500, country: France, contacts name: Laure LE GOFF, PI, role: CONTACT, phone: 04.72.12.95.04, phoneExt: +33, email: laure.le-goff@chu-lyon.fr, contacts name: Laure LE GOFF, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 45.73333, lon: 4.91667, locations facility: CHRU of Brest, city: Brest, zip: 29609, country: France, contacts name: Juliette ROPARS, Dr, role: CONTACT, phone: 02.98.22.33.89, phoneExt: +33, email: Juliette.ropars@chu-brest.fr, contacts name: Juliette ROPARS, Dr, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 48.3903, lon: -4.48628, locations facility: Pediatric Neurology and Resuscitation Raymond-Poincare Hospital, city: Garche, zip: 92380, country: France, contacts name: Susana QUIJANO-ROY, Pr, role: CONTACT, phone: 01.47.10.79.16, phoneExt: +33, email: Susana.quijano-roy@aphp.fr, contacts name: Susana QUIJANO-ROY, Pr, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 49.39419, lon: 6.19818, locations facility: Pediatric Neurology Swynghedauw Hospital, city: Lille, zip: 59037, country: France, contacts name: Jean-Baptiste DAVION, Dr, role: CONTACT, phone: 03.20.44.58.31, phoneExt: +33, email: Jeanbaptiste.davion@chru-lille.fr, contacts name: Jean-Baptiste DAVION, Dr, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 50.63297, lon: 3.05858, locations facility: Marseille University Hospital - Timone Hospital Department of Pediatric Neurology - Specialized Pediatrics and Child Medicine, city: Marseille, zip: 13005, country: France, contacts name: Brigitte CHABROL, Pr, role: CONTACT, phone: 04.91.38.68.08, phoneExt: +33, email: brigitte.chabrol@ap-hm.fr, contacts name: Brigitte CHABROL, Pr, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 43.29551, lon: 5.38958, locations facility: I-Motion Pediatric Clinical Trial Platform Armand Trousseau Hospital, city: Paris, zip: 75012, country: France, contacts name: Andreea SEFERIAN, Dr, role: CONTACT, phone: 01.71.73.80.50, phoneExt: +33, email: a.seferian@institut-myologie.org, contacts name: Andreea SEFERIAN, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 48.85341, lon: 2.3488, locations facility: Hautepierre Hospital - Mother and Child Hospital, city: Strasbourg, zip: 67200, country: France, contacts name: Vincent LAUGEL, Pr, role: CONTACT, phone: 03.88.12.77.43, phoneExt: +33, email: vincent.laugel@chru-strasbourg.fr, contacts name: Vincent LAUGEL, Pr, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 48.58392, lon: 7.74553, locations facility: Department of Pediatrics - Neurology and Infectious Diseases Toulouse University Hospital - Children's Hospital, city: Toulouse, zip: 31059, country: France, contacts name: Claude CANCES, Pr, role: CONTACT, phone: 05.34.55.74.08, phoneExt: +33, email: cances.c@chu-toulouse.fr, contacts name: Claude CANCES, Pr, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 43.60426, lon: 1.44367, hasResults: False