Motor evaluationsCognitive assessmentPulmonary function testCardiac evaluationQuality of lifeSpine X RayMuscular MRIBiomarkers collection and analysis
Motor evaluations: Evaluation 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)
Pulmonary function test: Evaluation of patients' respiratory function (FVC, PCF, MIP, MEP, SNIP)
Cardiac evaluation: Evaluation of patients' cardiac function (ECG, Echo-cardiography)
Quality of life: Evaluation of patients quality of life with questionnaires and PROM
Spine X Ray: Evaluation of spinal deformities by X-ray
Muscular MRI: Evaluation of a qualitative whole-body muscle part and a quantitative lower limb muscle part by MRI
Biomarkers collection and analysis: Collection of blood and urinary sample for biomarkers research.
Study summary
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
Sex
ALL
Min age
2 Years
Max age
15 Years
Healthy volunteers
No
Inclusion Criteria:
* Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
* Subject must be
* Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by:
* 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
* Absence of another confirmed neurological genetic disease
* Willingness to maintain current exercise and/or physical therapy regimen for the duration of the clinical study
* Willingness to comply with the study protocol, including all the mandatory study procedures and visits
* Affiliated to or a beneficiary of a French or acknowledged in France, social security scheme
Exclusion Criteria:
* 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
* Pregnant or breastfeeding women
Primary outcome measure(s)
Change in Motor function Measurement (MFM32) score — Through study completion, an average of 2 years
Change in Motor Milestone Checklist — Through study completion, an average of 2 years Acquisitions and losses of motor functions (ex: Head control, sitting, crawling, standing, walking, climbing stairs, jumping,running, hopping,...)
Change in Revised Upper Limb Module (RULM) score — Through study completion, an average of 2 years
Change in grip strength measured by dynamometer tool — Through study completion, an average of 2 years
Change in pinch strength measured by dynamometer tool — Through study completion, an average of 2 years
Change in arm flexion/extension strength measured by dynamometer tool — Through study completion, an average of 2 years
Change in 6 Minutes Walking Test — Through study completion, an average of 2 years
Change in 4 Stairs Climbing Test (4SCT) — Through study completion, an average of 2 years
Change in 10m Walking Test — Through study completion, an average of 2 years
Change in Rise from Floor Test — Through study completion, an average of 2 years
Change in patient's Forced Vital Capacity (FVC) results — Through study completion, an average of 2 years
Change in patient's Peak Cough Flow (PCF) results — Through study completion, an average of 2 years
Change in patient's Maximum Expiratory Pressure (MEP) results — Through study completion, an average of 2 years
Change in patient's Maximal Inspiratory Pressure (MIP) results — Through study completion, an average of 2 years
Change in patient's Sniff Nasal Inspiratory Pressure (SNIP) results — Through study completion, an average of 2 years
Change in patient's muscle fat replacement measured by Magnetic Nuclear Resonance — Through study completion, an average of 2 years
Change in patient's cross-sectional area of the residual muscle measured by MNR — Through study completion, an average of 2 years
Trial sites (4)
Facility
City
Region
Status
Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré
Garches
France
Not Yet Recruiting
Service de MPR pédiatrique L'Escale - HCL
Lyon
France
Not Yet Recruiting
Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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