Spanish Natural History Study for LAMA2 Muscular Dystrophy

Recruiting

• Conditions: LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A); Merosin Deficient CMD (Full or Partial); Merosin Deficient Congenital Muscular Dystrophy; Muscular Dystrophies; Cohort Studies

• Registration Number: NCT06924125
• Lead Sponsor: Hospital Universitari Vall d'Hebron Research Institute

Brief Summary

The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-07-27
• Study First Submitted: 2025-03-07
• Status Verified: 2025-04
• Study First Submitted QC: 2025-04-05
• Last Update Submitted: 2025-04-05
• Study First Posted: 2025-04-11
• Last Update Posted: 2025-04-11
• Primary Completion: 2030-07-01
• Study Completion: 2030-07-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant
• Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change in Motor function Measurement (MFM32) score	Change from baseline through study completion, an average of 5 years	Global motor functioning. The items of the MFM are classified in 3 domains: D1: standing and transfers, D2: Axial and proximal motor function, D3: Distal motor function. Higher scored indicate a better outcome. The range of the total score is 0-96. The main point of interest includes the change of MFM score yearly, over a period of 5 years.
Change in Motor Milestones	Change from baseline through study completion, an average of 5 years	Age at acquisition (yes/no) and loss of all motor functions (ex: Head control, sitting, standing, walking, running, climbing stairs and tip toe walking)
Change in Muscle Echogenicity by Muscle Ultrasound	Change from baseline through study completion, an average of 5 years	A standardized muscle ultrasound protocol of assessment is performed (whole body). Muscle images are scored using the Heckmatt scale (Score 1-4): Heckmatt grade 1 represents a normal muscle image, Heckmatt grade 2 shows an increased echogenicity without attenuation of the deeper image regions, Heckmatt grade 3 indicates a larger increase in echogenicity with some visible loss of normal muscle architecture, and Heckmatt grade 4 shows a strongly increased echogenicity with complete loss of recognizable muscle architecture.

Trial Locations

Locations (1)

University Hospital Vall d'Hebron; 🇪🇸 Barcelona, Spain