protocolSection identificationModule nctId: NCT06354790, orgStudyIdInfo id: NatHis LAMA2, briefTitle: Natural History Study of Children With LAMA2-related Dystrophies, acronym: LAMA2, statusModule overallStatus: NOT_YET_RECRUITING, startDateStruct date: 2024-06-15, primaryCompletionDateStruct date: 2027-06-14, completionDateStruct date: 2027-12-31, studyFirstPostDateStruct date: 2024-04-09, lastUpdatePostDateStruct date: 2024-04-09, sponsorCollaboratorsModule leadSponsor name: Institut de Myologie, France, class: OTHER, collaborators name: Association Française contre les Myopathies (AFM), Paris, descriptionModule briefSummary: The goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients.The aim of the study is to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials.Participants will be follow up during a two years period regarding exhaustive aspects of the pathology:* Muscular function* Respiratory function* Cognitive phenotyping* Quality of life* Growth parameters* Biomarkers, conditionsModule conditions: Merosin Deficient Congenital Muscular Dystrophy, designModule studyType: OBSERVATIONAL, designInfo observationalModel: COHORT, timePerspective: PROSPECTIVE, enrollmentInfo count: 40, type: ESTIMATED, armsInterventionsModule interventions name: Motor evaluations, interventions name: Cognitive assessment, interventions name: Pulmonary function test, interventions name: Cardiac evaluation, interventions name: Quality of life, interventions name: Spine X Ray, interventions name: Muscular MRI, interventions name: Biomarkers collection and analysis, outcomesModule primaryOutcomes measure: Change in Motor function Measurement (MFM32) score, primaryOutcomes measure: Change in Motor Milestone Checklist, primaryOutcomes measure: Change in Revised Upper Limb Module (RULM) score, primaryOutcomes measure: Change in grip strength measured by dynamometer tool, primaryOutcomes measure: Change in pinch strength measured by dynamometer tool, primaryOutcomes measure: Change in arm flexion/extension strength measured by dynamometer tool, primaryOutcomes measure: Change in 6 Minutes Walking Test, primaryOutcomes measure: Change in 4 Stairs Climbing Test (4SCT), primaryOutcomes measure: Change in 10m Walking Test, primaryOutcomes measure: Change in Rise from Floor Test, primaryOutcomes measure: Change in patient's Forced Vital Capacity (FVC) results, primaryOutcomes measure: Change in patient's Peak Cough Flow (PCF) results, primaryOutcomes measure: Change in patient's Maximum Expiratory Pressure (MEP) results, primaryOutcomes measure: Change in patient's Maximal Inspiratory Pressure (MIP) results, primaryOutcomes measure: Change in patient's Sniff Nasal Inspiratory Pressure (SNIP) results, primaryOutcomes measure: Change in patient's muscle fat replacement measured by Magnetic Nuclear Resonance, primaryOutcomes measure: Change in patient's cross-sectional area of the residual muscle measured by MNR, secondaryOutcomes measure: Change in Wechsler Preschool and Primary Scale of Intelligence-IV (WPPSI-IV) results, secondaryOutcomes measure: Change in Wechsler Intelligence Scale for Children-V (WISC-V) results, secondaryOutcomes measure: Change in PedsQL questionnaire results, secondaryOutcomes measure: Change in CGI-S questionnaire results, secondaryOutcomes measure: Change in CGI-I questionnaire results, secondaryOutcomes measure: Change in Faces pain rating scale results, secondaryOutcomes measure: Change in Fatigue Severity Scale results, secondaryOutcomes measure: Change in ACTIVLIM questionnaire results, secondaryOutcomes measure: Change in Egen Klassifikation Scale Version 2 (EK2) results, secondaryOutcomes measure: Change in Caregiver burden questionnaire (LMDIS) results, eligibilityModule sex: ALL, minimumAge: 2 Years, maximumAge: 15 Years, stdAges: CHILD, contactsLocationsModule locations facility: Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré, city: Garches, country: France, contacts name: Isabelle BOSSARD, role: CONTACT, contacts name: Marta GOMEZ, MD, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 48.84226, lon: 2.18232, locations facility: Service de MPR pédiatrique L'Escale - HCL, city: Lyon, country: France, contacts name: Manel SAIDI, role: CONTACT, contacts name: Carole VUILLEROT, MD, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 45.74848, lon: 4.84669, locations facility: Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac, city: Montpellier, country: France, contacts name: Léa THEVENET, role: CONTACT, contacts name: Ulrike WALTHER-LOUVIER, MD, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 43.61092, lon: 3.87723, locations facility: Plateforme d'essais cliniques pédiatriques iMotion, city: Paris, country: France, contacts name: Dominique DUCHENE, role: CONTACT, contacts name: Andreea SEFERIAN, MD, role: PRINCIPAL_INVESTIGATOR, geoPoint lat: 48.85341, lon: 2.3488, hasResults: False