Recruiting

Observational Study

Sponsor:

Nationwide Children's Hospital

Code:

NCT06503367

Conditions

LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)

Eligibility Criteria

Sex: All

Age: 0 - 5

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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

Conditions

LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)

Study ID

NCT06503367

Start date

May 12, 2025

Status verified date

Aug, 2026

Completion date

Sep, 2028

Anticipated

Primary completion date

Sep, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 5

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

44 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Validate the change over 24 months using the Neuromuscular Gross Motor Outcome [ Time Frame: 24 months ]
  • Validate the change over 24 months using the Bayley Scales of Infant and Toddler Development™ 4th Ed (BayleyTM-4) [ Time Frame: 24 months ]
  • Validate the change over 24 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders [ Time Frame: 24 months ]
  • Validate the change over 24 months using the Motor Function Measure Scale-Short Form [ Time Frame: 24 months ]
  • Validate the change over 24 months using the World Health Organization motor milestones [ Time Frame: 24 months ]

Central Contacts and Locations

Central contacts

Kevin Warf

(614) 355-2765ReadyCMDLAMA2@nationwidechildrens.org

Locations

University of California, Los Angeles

Recruiting

Los Angeles, California, United States, 90095

Contacts

Indumathi Mohanchandra

(310) 825-3264IMohanchandra@mednet.ucla.edu

Principal Investigator:

Perry Shieh, MD PhD

Stanford University

Recruiting

Stanford, California, United States, 94305

Contacts

Lin Karman

(650) 384-9417lkarman@stanford.edu

Principal Investigator:

Carolina Tesi-Rocha, MD

Ann & Robert H. Lurie Children's Hospital of Chicago

Recruiting

Chicago, Illinois, United States, 60611

Contacts

Raven Hill

(312) 227-2937rhill@luriechildrens.org

Principal Investigator:

Nancy Kuntz, MD

University of Iowa Stead Family Children's Hospital

Recruiting

Iowa City, Iowa, United States, 52242

Contacts

Laura Knosp

(319) 384-6277laura-knosp@uiowa.edu

Principal Investigator:

Katherine Mathews, MD

National Institute of Neurological Disorders and Stroke, NIH

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

Dana MacDonald

(301) 402-2273dana.macdonald@nih.gov

Principal Investigator:

Reghan Foley, MD

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Elicia Estrella

(617) 919-7384Elicia.Estrella@childrens.harvard.edu

Principal Investigator:

Partha Ghosh, MD

University of Minnesota

Recruiting

Saint Paul, Minnesota, United States, 55108

Contacts

Ellen Poppy

(612) 625-2850poppy005@umn.edu

Principal Investigator:

Peter Kang, MD

Washington University in St. Louis

Recruiting

St Louis, Missouri, United States, 63130

Contacts

Julie Miner

(314) 362-1566m.julie@wustl.edu

Principal Investigator:

Craig Zaidman, MD

University of Rochester

Recruiting

Rochester, New York, United States, 14627

Contacts

Kim Hart

(585) 275-3767kim_hart@urmc.rochester.edu

Principal Investigator:

Bo Hoon Lee, MD

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati, Ohio, United States, 45229

Contacts

Jessica Getz

(513) 803-9036Jessica.getz@cchmc.org

Principal Investigator:

Cuixia Tian, MD

Nationwide Children's Hospital

Recruiting

Columbus, Ohio, United States, 43205

Contacts

Kevin Warf

(614) 355-2765ReadyCMDLAMA2@nationwidechildrens.org

Principal Investigator:

Anne M Connolly, MD

Children's Hospital of Pittsburgh

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Contacts

Heather Dicostanzo

(412) 692-7660follhl@upmc.edu

Principal Investigator:

Hoda Abdel-Hamid, MD

University of Texas Southwestern

Recruiting

Dallas, Texas, United States, 75235

Contacts

Shahera Ranjha

(214) 456-5959Shahera.Ranjha@UTSouthwestern.edu

Principal Investigator:

Kaitlin Batley, MD

More Information

Sponsor

Nationwide Children's Hospital

Last update posted

Aug 19, 2026

Last verified

Aug, 2026

Keywords

  • Early Phase 1
  • Observational
  • Natural History
  • Neuromuscular
  • Functional Assessments

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-08. This information was provided to ClinicalTrials.gov by Nationwide Children's Hospital on 2026-08-19. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.