RecruitingNot Applicable

Spanish Natural History Study for LAMA2 Muscular Dystrophy

Spain100 participantsStarted 2021-07-27

Plain-language 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.

Who can participate

Age range0 Minutes – 100 Years

SexALL

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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)

What they're measuring

Change in Motor function Measurement (MFM32) score

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

Change in Motor Milestones

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

Change in Muscle Echogenicity by Muscle Ultrasound

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

Trial details

NCT IDNCT06924125

SponsorHospital Universitari Vall d'Hebron Research Institute

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2030-07-01

Contact for this trial

David Gómez-Andrés

+34934893156 david.gomezandres@vallhebron.cat

View on ClinicalTrials.gov More LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A) trials