Health Trials

Spanish Natural History Study for LAMA2 Muscular Dystrophy

ConditionsLAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)Merosin Deficient CMD (Full or Partial)Merosin Deficient Congenital Muscular DystrophyMuscular DystrophiesCohort Studies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-100
SponsorHospital Universitari Vall d'Hebron Research Institute

About this trial

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.

Eligibility criteria

Qualifiers

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)

Disqualifiers

None

Trial design

Treatments tested in this trial

  • Motor function scales
  • MUSCLE ULTRASOUND
  • Muscle Elastography
  • Complete physical examination
  • Ventilatory/ respiratory and other support assessment
  • Oromotor function and nutrition
  • Motor Milestone Assessments

Treatment groups

100 Participants
are divided into 1 treatment group

Sponsors and collaborators

Hospital Universitari Vall d'Hebron Research Institute

Lead sponsor

ASOCIACIÓN IMPÚLSATE PARA LA CURA DE LOS NIÑOS CON DÉFICIT DE MEROSINA

Collaborator

Source ClinicalTrials.gov