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

NCT06503367 | Recruiting

• 2 other identifiers: Ready CMD LAMA21U01NS124961-01A1
• Study Type: observational
• Target: 44
• Locations: 1 country
• Sites: 14

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 \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)

Keywords

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

Outcome Measures

Primary Outcomes (5)

• Validate the change over 24 months using the Neuromuscular Gross Motor Outcome

  The Neuromuscular GRO is a 50-item assessment that measures a child's gross motor function when lying down, sitting, crawling, walking, jumping, and climbing stairs.

  24 months

• Validate the change over 24 months using the Bayley Scales of Infant and Toddler Development™ 4th Ed (BayleyTM-4)

  The Bayley assess four areas of development: Gross Motor, Fine Motor, Speech and Language, and Social. These results are compared to typically developing children ages 15 days to 42 months. The entire assessment takes between 1 and 3 hours, with breaks.

  24 months

• Validate the change over 24 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders

  The CHOP-Intend includes 16-items to measure a child's ability to move their body in a lying down position, supported sitting, and assisted rolling.

  24 months

• Validate the change over 24 months using the Motor Function Measure Scale-Short Form

  The MFM-20 contains 20 items to assess a child's motor function in sitting, lying down, standing, and completing tabletop activities.

  24 months

• Validate the change over 24 months using the World Health Organization motor milestones

  A child will be asked to complete 6 items to assess attainment of gross motor milestones including sitting without support, crawling, standing, and walking with and without assistance.

  24 months

Other Outcomes (2)

• Validate CK Biomarkers

  From enrollment to the end of observation at 2 years.

• Muscle Ultrasound

  24 months

Eligibility Criteria

• Age: Up to 5 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Study population will be neuromuscular clinic patients of site principal investigators, as well as individuals identified by our genetic counselor.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Nationwide Children's Hospital: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• Ann & Robert H Lurie Children's Hospital of Chicago: collaborator
• Children's Hospital Medical Center, Cincinnati: collaborator
• University of Iowa: collaborator
• Washington University School of Medicine: collaborator
• Stanford University: collaborator
• University of Utah: collaborator
• University of Rochester: collaborator
• University of Pittsburgh: collaborator
• University of Texas, Southwestern Medical Center at Dallas: collaborator
• University of Minnesota: collaborator
• University of California, Los Angeles: collaborator
• Boston Children's Hospital: collaborator

Study Sites (14)

University of California, Los Angeles

Los Angeles, California, 90095, United States

RECRUITING

Stanford University

Stanford, California, 94305, United States

RECRUITING

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

Chicago, Illinois, 60611, United States

RECRUITING

University of Iowa Stead Family Children's Hospital

Iowa City, Iowa, 52242, United States

RECRUITING

National Institute of Neurological Disorders and Stroke, NIH

Bethesda, Maryland, 20892, United States

RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

University of Minnesota

Saint Paul, Minnesota, 55108, United States

RECRUITING

Washington University in St. Louis

St Louis, Missouri, 63130, United States

RECRUITING

University of Rochester

Rochester, New York, 14627, United States

RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

RECRUITING

Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

University of Texas Southwestern

Dallas, Texas, 75235, United States

RECRUITING

University of Utah

Salt Lake City, Utah, 84112, United States

NOT YET RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Serum

MeSH Terms

Conditions

Muscular dystrophy congenital, merosin negative

Study Officials

• Anne M Connolly, MD

  Nationwide Childrens Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kevin Warf

CONTACT

(614) 355-2765; ReadyCMDLAMA2@nationwidechildrens.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principle Investigator

Study Record Dates

• First Submitted: June 21, 2024
• First Posted: July 16, 2024
• Study Start: May 12, 2025
• Primary Completion (Estimated): September 1, 2028
• Study Completion (Estimated): September 1, 2028
• Last Updated: April 8, 2026

Record last verified: 2026-04

Locations

US (14)