Natural History Study of Children With LAMA2-related Dystrophies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2-15
SponsorInstitut de Myologie, France
About this trial
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
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
Subject must be
Two pathogenic variants in the LAMA2 gene (via a diagnostic laboratory included on an approved list of genetic testing laboratories (Annex 1)) or
Muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene
Disqualifiers
Developmental quotient less than 70 and/or behavioral disorder requiring general anesthesia to perform an MRI
Acute medical illness or hospitalization within 30 days prior to informed consent
Participation in a previous trial of any investigational agent for LAMA2-RD, or use of any other investigational therapy within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 5 half-lives, whichever is longer) prior to informed consent, which, in the opinion of the PI, may potentially confound results from this study
Other significant medical condition and/or overall fragility of medical status, which in the opinion of the Investigator may confound interpretation of the clinical course of LAMA2-RD
Trial population
40 young patients aged between 2 and 15 years old (inclusive) at time of consent, with a confirmed LAMA2 diagnosis (muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene)
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Motor evaluations
Other interventionEvaluation of patients motor function using motor scales (MFM32, RULM), Timed functioned tests (6MWT, Rise from floor, 4SCT, 10mWT), dynamometric strength evaluation (grip, pinch, flexion/extension)
Cognitive assessment
Other interventionPatients cognitive evaluation (WPPSI-IV, WISC-V)
Pulmonary function test
Other interventionEvaluation of patients' respiratory function (FVC, PCF, MIP, MEP, SNIP)
Cardiac evaluation
Other interventionEvaluation of patients' cardiac function (ECG, Echo-cardiography)
Quality of life
Other interventionEvaluation of patients quality of life with questionnaires and PROM
Spine X Ray
Other interventionEvaluation of spinal deformities by X-ray
Muscular MRI
Other interventionEvaluation of a qualitative whole-body muscle part and a quantitative lower limb muscle part by MRI
Biomarkers collection and analysis
Other interventionCollection of blood and urinary sample for biomarkers research.
Treatment groups
40 Participants
are divided into 1 treatment groupGroup A: All patients8 interventions
Trial outcomes
Primary outcomes
1
Change in Motor function Measurement (MFM32) score
Time frame
Through study completion, an average of 2 years2
Change in Motor Milestone Checklist
Acquisitions and losses of motor functions (ex: Head control, sitting, crawling, standing, walking, climbing stairs, jumping,running, hopping,...)
Time frame
Through study completion, an average of 2 years3
Change in Revised Upper Limb Module (RULM) score
Time frame
Through study completion, an average of 2 years4
Change in grip strength measured by dynamometer tool
Time frame
Through study completion, an average of 2 yearsSecondary outcomes
1
Change in Wechsler Preschool and Primary Scale of Intelligence-IV (WPPSI-IV) results
Time frame
Through study completion, an average of 2 years2
Change in Wechsler Intelligence Scale for Children-V (WISC-V) results
Time frame
Through study completion, an average of 2 years3
Change in PedsQL questionnaire results
Time frame
Through study completion, an average of 2 years4
Change in CGI-S questionnaire results
Time frame
Through study completion, an average of 2 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Institut de Myologie, France
Lead sponsor
Association Française contre les Myopathies (AFM), Paris
Collaborator
Source ClinicalTrials.gov