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

RecruitingObservational study

Establishing Clinical Trial Readiness for Children 0-5 Years With Congenital Muscular Dystrophy Secondary to LAMA2 Mutations (READY CMD LAMA2)

Who can join

Up to age 5 · All sexes

Full eligibility criteria
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.

About the study

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

Sponsor: Nationwide Children's Hospital · Participants: 44 · Started: May 12, 2025

Contact the study team

Official record on ClinicalTrials.gov — NCT06503367

Locations in the U.S.

CaliforniaUniversity of California, Los Angeles, Los Angeles
Stanford University, Stanford
IllinoisAnn & Robert H. Lurie Children's Hospital of Chicago, Chicago
IowaUniversity of Iowa Stead Family Children's Hospital, Iowa City
MarylandNational Institute of Neurological Disorders and Stroke, NIH, Bethesda
MassachusettsBoston Children's Hospital, Boston
MinnesotaUniversity of Minnesota, Saint Paul
MissouriWashington University in St. Louis, St Louis
New YorkUniversity of Rochester, Rochester
OhioCincinnati Children's Hospital Medical Center, Cincinnati
Nationwide Children's Hospital, Columbus
PennsylvaniaChildren's Hospital of Pittsburgh, Pittsburgh
TexasUniversity of Texas Southwestern, Dallas
UtahUniversity of Utah, Salt Lake City (Not yet recruiting)

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.