Spanish Natural History Study for LAMA2 Muscular Dystrophy

NCT06924125 | Recruiting

• 1 other identifier: PR(AMI)/433/2021
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Merosin; LAMA2; Laminin; Dystrophy; natural history

Outcome Measures

Primary Outcomes (3)

• 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.

  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)

  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.

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

Study Arms (1)

All patients

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

Diagnostic Test: Motor function scales; Diagnostic Test: MUSCLE ULTRASOUND; Diagnostic Test: Muscle Elastography; Other: Complete physical examination; Other: Ventilatory/ respiratory and other support assessment; Other: Oromotor function and nutrition; Other: Motor Milestone Assessments

Interventions

Motor function scales DIAGNOSTIC_TEST

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

All patients

MUSCLE ULTRASOUND DIAGNOSTIC_TEST

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

All patients

Muscle Elastography DIAGNOSTIC_TEST

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

All patients

Complete physical examination OTHER

Complete physical evaluations including muscle power and goniometry measurements

All patients

Ventilatory/ respiratory and other support assessment OTHER

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

All patients

Oromotor function and nutrition OTHER

Assessment of bulbar funcionality: feeding devices, nutritional status.

All patients

Motor Milestone Assessments OTHER

Motor milestones age of acquisition and loss

All patients

Eligibility Criteria

• Age: 0 Minutes - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All patients with compatible clinical presentation and genetical confirmation LAMA2-RD

You may qualify if:

• 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)

Sponsors & Collaborators

• Hospital Universitari Vall d'Hebron Research Institute: lead
• ASOCIACIÓN IMPÚLSATE PARA LA CURA DE LOS NIÑOS CON DÉFICIT DE MEROSINA: collaborator

Study Sites (1)

University Hospital Vall d'Hebron

Barcelona, Barcelona, 08035, Spain

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Plasma and DNA in selected patients

MeSH Terms

Conditions

Muscular dystrophy congenital, merosin negative; Muscular Dystrophies

Interventions

Respiratory Rate; Nutritional Status

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Vital Signs; Physical Examination; Diagnostic Techniques and Procedures; Diagnosis; Respiration; Respiratory Physiological Phenomena; Circulatory and Respiratory Physiological Phenomena; Nutritional Physiological Phenomena; Diet, Food, and Nutrition; Physiological Phenomena; Health Status; Demography; Population Characteristics

Central Study Contacts

David Gómez-Andrés

CONTACT

+34934893156; david.gomezandres@vallhebron.cat

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 7, 2025
• First Posted: April 11, 2025
• Study Start: July 27, 2021
• Primary Completion (Estimated): July 1, 2030
• Study Completion (Estimated): July 1, 2030
• Last Updated: April 11, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

ES (1)