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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

This trial does not accept healthy volunteers

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 population

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

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • Motor function scales

    Diagnostic test

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

  • MUSCLE ULTRASOUND

    Diagnostic test

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

  • Muscle Elastography

    Diagnostic test

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

  • Complete physical examination

    Other intervention

    Complete physical evaluations including muscle power and goniometry measurements

  • Ventilatory/ respiratory and other support assessment

    Other intervention

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

  • Oromotor function and nutrition

    Other intervention

    Assessment of bulbar funcionality: feeding devices, nutritional status.

  • Motor Milestone Assessments

    Other intervention

    Motor milestones age of acquisition and loss

Treatment groups

100 Participants
are divided into 1 treatment group
Group A: All patients7 interventions

Trial outcomes

Primary outcomes

1

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
2

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
3

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

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

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
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