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Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy

Recruitingn/aAges any - 5 YearsAllNationwide Children's Hospital
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In plain words

What the trial is, and whether it could suit you

The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems. Participants will undergo: * Neuromuscular assessments * Blood collections * Swallowing and breathing assessments * Questionnaires

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Signed informed consent by the subject, parent(s) or legally authorized representative (LAR) and/or assent by the subject (when applicable). * Subject must be aged birth to less than 5.0 years of age at time of consent. * A confirmed diagnosis of LAMA2-RD confirmed via: a: Two pathogenic variants in the LAMA2 gene (via a CLIA-approved laboratory) or: b. muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene * Absence of another confirmed genetic disease. * Willingness to maintain current exercise and/or physical therapy regimen for the duration of the clinical study. * Willingness to comply with the study protocol, including but not limited to, all study procedures and visits. Exclusion Criteria: * Acute medical illness or hospitalization within 30 days prior to informed consent. * Participation in a previous trial of any investigational agent for LAMA2-RD within 1 month prior to informed consent, or use of any other investigational therapy (including off-label use of Losartan) within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 3 half-lives, whichever is longer) prior to informed consent, which in the opinion of the PI, may potentially confound results from this study. * Other significant medical condition, which in the opinion of the site Principal Investigator may confound interpretation of the clinical course of LAMA2- RD.
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What it tests

  • Not listed
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Where

14 sites
University of California, Los Angeles
Los Angeles, United States
Stanford University
Stanford, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, United States
University of Iowa Stead Family Children's Hospital
Iowa City, United States
National Institute of Neurological Disorders and Stroke, NIH
Bethesda, United States
Boston Children's Hospital
Boston, United States
University of Minnesota
Saint Paul, United States
Washington University in St. Louis
St Louis, United States

โ€ฆand 6 more on ClinicalTrials.gov.

๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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