Natural History Study of Children With LAMA2-related Dystrophies

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

Conditions

• Merosin Deficient Congenital Muscular Dystrophy

Interventions

OTHER

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)

OTHER

Cognitive assessment

Patients cognitive evaluation (WPPSI-IV, WISC-V)

OTHER

Pulmonary function test

Evaluation of patients' respiratory function (FVC, PCF, MIP, MEP, SNIP)

OTHER

Cardiac evaluation

Evaluation of patients' cardiac function (ECG, Echo-cardiography)

OTHER

Quality of life

Evaluation of patients quality of life with questionnaires and PROM

OTHER

Spine X Ray

Evaluation of spinal deformities by X-ray

OTHER

Muscular MRI

Evaluation of a qualitative whole-body muscle part and a quantitative lower limb muscle part by MRI

OTHER

Biomarkers collection and analysis

Collection of blood and urinary sample for biomarkers research.

Sponsors & Collaborators

• Association Française contre les Myopathies (AFM), Paris

  collaborator OTHER

• Institut de Myologie, France

  lead OTHER

Eligibility

Min Age

2 Years

Max Age

15 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2024-12-05

Primary Completion

2027-12-04

Completion

2027-12-31

Countries

• France

Study Locations