Spanish Natural History Study for LAMA2 Muscular Dystrophy

Hospital Universitari Vall d'Hebron Research Institute100 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

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

Interventions

Evaluation of patients motor function using motor scales (MFM32, CHOP)

MUSCLE ULTRASOUNDDIAGNOSTIC_TEST

Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).

Muscle ElastographyDIAGNOSTIC_TEST

Assess the mechanical properties of muscles, such as stiffness and elasticity.

Complete physical examinationOTHER

Complete physical evaluations including muscle power and goniometry measurements

Ventilatory/ respiratory and other support assessmentOTHER

Assessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices

Oromotor function and nutritionOTHER

Assessment of bulbar funcionality: feeding devices, nutritional status.

Motor Milestone AssessmentsOTHER

Motor milestones age of acquisition and loss

Eligibility

Sex: ALLMin age: 0 MinutesMax age: 100 Years

Medical Language ↔ Plain English

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)

Locations (1)

University Hospital Vall d'Hebron

Barcelona, Barcelona, Spain

RECRUITING

Outcomes

Primary Outcomes

Change in Motor function Measurement (MFM32) score

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.

Time frame: Change from baseline through study completion, an average of 5 years

Change in Motor Milestones

Age at acquisition (yes/no) and loss of all motor functions (ex: Head control, sitting, standing, walking, running, climbing stairs and tip toe walking)

Time frame: Change from baseline through study completion, an average of 5 years

Change in Muscle Echogenicity by Muscle Ultrasound

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.

Time frame: Change from baseline through study completion, an average of 5 years

Central Contacts

David Gómez-Andrés

CONTACT

+34934893156 david.gomezandres@vallhebron.cat

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.