Spanish Natural History Study for LAMA2 Muscular Dystrophy

NCT ID: NCT06924125

Last Updated: 2025-04-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-07-27

Study Completion Date

2030-07-01

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

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

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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

Motor function scales

Intervention Type DIAGNOSTIC_TEST

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

MUSCLE ULTRASOUND

Intervention Type DIAGNOSTIC_TEST

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

Muscle Elastography

Intervention Type DIAGNOSTIC_TEST

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

Complete physical examination

Intervention Type OTHER

Complete physical evaluations including muscle power and goniometry measurements

Ventilatory/ respiratory and other support assessment

Intervention Type OTHER

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

Oromotor function and nutrition

Intervention Type OTHER

Assessment of bulbar funcionality: feeding devices, nutritional status.

Motor Milestone Assessments

Intervention Type OTHER

Motor milestones age of acquisition and loss

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Motor function scales

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

Intervention Type DIAGNOSTIC_TEST

MUSCLE ULTRASOUND

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

Intervention Type DIAGNOSTIC_TEST

Muscle Elastography

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

Intervention Type DIAGNOSTIC_TEST

Complete physical examination

Complete physical evaluations including muscle power and goniometry measurements

Intervention Type OTHER

Ventilatory/ respiratory and other support assessment

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

Intervention Type OTHER

Oromotor function and nutrition

Assessment of bulbar funcionality: feeding devices, nutritional status.

Intervention Type OTHER

Motor Milestone Assessments

Motor milestones age of acquisition and loss

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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)
Minimum Eligible Age

0 Minutes

Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

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

UNKNOWN

Sponsor Role collaborator

Hospital Universitari Vall d'Hebron Research Institute

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

University Hospital Vall d'Hebron

Barcelona, Barcelona, Spain

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

Spain

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

David Gómez-Andrés

Role: CONTACT

+34934893156

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Neurologia Pediatrica - HUVH

Role: primary

934893156

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

PR(AMI)/433/2021

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

LAMA2 Genetic Correction
NCT06582537 COMPLETED
The U.K. NorthStar Clinical Network
NCT06711692 NOT_YET_RECRUITING