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 range

0 Minutes – 100 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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)

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

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

Plain-language summary

Who can participate

Age range

0 Minutes – 100 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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