Spanish Natural History Study for LAMA2 Muscular Dystrophy

Vall d'Hebron University Hospital (HUVH)

Status

Enrolling

Conditions

Merosin Deficient CMD (Full or Partial)

Cohort Studies

Merosin Deficient Congenital Muscular Dystrophy

Muscular Dystrophies

LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)

Treatments

Other: Ventilatory/ respiratory and other support assessment

Other: Complete physical examination

Other: Motor Milestone Assessments

Other: Oromotor function and nutrition

Diagnostic Test: MUSCLE ULTRASOUND

Diagnostic Test: Motor function scales

Diagnostic Test: Muscle Elastography

Study type

Observational

Funder types

Other

Identifiers

NCT06924125

PR(AMI)/433/2021

Details and patient eligibility

About

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.

Enrollment

100 estimated patients

Sex

All

Ages

Under 100 years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

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)

Trial design

100 participants in 1 patient group

All patients

Description:

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