NCT06354790

Natural History Study of Children With LAMA2-related Dystrophies

A Prospective, Longitudinal, Interventional Natural History Study of Children With LAMA2-related Dystrophies

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 40 (estimated)
• Sponsor: Institut de Myologie, France · Academic / Other
• Sex: All
• Age: 2 Years – 15 Years
• Healthy volunteers: Not accepted

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

Detailed description

The international workshop on LAMA2-RD, held in 2019 in Maastricht, stressed the importance of the identification of LAMA2-RD patients and the natural history studies worldwide. Together with the recent progress in preclinical applications, the road to therapy is paved. However, no effective treatment has currently received market approval. Given the phenotype variability in LAMA2-RD patients, even in very young ones, determining which outcome measure(s) could be the most appropriate to assess the efficacy of potential therapies, and which variables are prognostic of the disease course, is required. In consequence, it is clearly necessary to explore all the aspects of the pathology: physiological, clinical/motor, biological, aligning with current or future international studies though collaboration. Unlike results obtained through a retrospective study, data from a prospective natural history will be less subject to bias and error. Control of the studied population will also lead to reduce the variability of the results. The different variables explored during this study aim to cover all aspects of the disease and appear to be relevant candidates as outcomes. The aim of the study is to focus on the clinical phenotyping and to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials. One other objective is to validate the use of a large subset of outcome measures in LAMA2-RD. Adding an electrophysiological data will give more insight to the neuropathology of the disease and enlarge the scope of futures therapies. An exploratory part will test if denaturation profiling of plasma from patients can be used to follow disease progression. Finally, serum and plasma samples from patients will also be stored for future studies focused on searching and validating novel biomarkers in LAMA2-RD.

Conditions

• Merosin Deficient Congenital Muscular Dystrophy

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2024-12-05
• Primary completion: 2027-12-04
• Completion: 2027-12-31
• First posted: 2024-04-09
• Last updated: 2024-12-12

Locations

4 sites across 1 country: France