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

April 6, 2026 updated by: Anne M. Connolly, Nationwide Children's Hospital

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

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

Study Overview

Status

Recruiting

Conditions

Detailed Description

READY CMD LAMA2 is a Pre-Phase 1, single-arm, multicenter, prospective natural history clinical study to evaluate the natural history and potential early outcome measures in subjects with laminin α2-related dystrophy (LAMA2-RD) aged 0-5 years. The study seeks to enroll 44 subjects across 14 sites. NCH will enroll 10 subjects.

Subjects will complete in-person visits at Baseline, Month 6, Month 12, Month 18, and Month 24. Within two weeks of the Baseline, Month 12, and Month 24 visits, a remote visit will be performed to repeat and compare remote outcomes with in-person outcomes. Remote visits only will also be performed at Month 3 and Month 9. Adverse events will be captured every three months, beginning at baseline. Phone calls will be made by the coordinator and/or other delegated study staff at months 3, 9, 15, and 21.

The total study duration for each subject is up to 24 months.

Physical assessments to be performed will depend on the subject's age and may include the following:

  • Assessment of motor milestones (maintained, lost or acquired)
  • Neuromuscular Gross Motor Outcome (GRO)
  • Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
  • Motor Function Measure (MFM-20)
  • Bayley-4
  • Respiratory assessments: capnography and collection of data on use of non- invasive ventilation and other respiratory support
  • Physical exam
  • Swallow/oromotor assessment: To be performed by physician, occupational therapist, speech language pathologist, or other licensed professional at the site.
  • Muscle ultrasound may be performed at some sites.

Other assessments:

  • Growth parameters [head circumference, chest circumference, length, weight, body mass index (BMI)]
  • 12-lead electrocardiogram
  • Mode of feeding
  • Peds Quality of Life (PedsQL) Neuromuscular Module
  • Pediatric Evaluation of Disability Inventory (PEDI)
  • Clinical Global Impression of Change (CGIC), physician and parent/caregiver assessed.
  • Blood samples will be collected from subjects and stored for biomarker and other research purposes. Blood samples will be collected at each in-person visit.
  • Data from electronic medical records of evaluations performed as standard of care visits will be collected.

Medical history, concomitant medications, and AEs will be collected and assessed for a potential relationship to participation in this study.

The total duration of the study for each subject is up to approximately 24 months. A subject will be considered to have competed the study if he/she has completed all assessments up to and including Month 24 assessments. The end of the study is defined as the date of completion of the last scheduled assessment shown in the Schedule of Events for the last subject in the study.

Subjects who prematurely discontinue study participation will be encouraged to complete an End-of- Study Visit to include assessment of motor milestones and recording of AEs.

Study Type

Observational

Enrollment (Estimated)

44

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • California
      • Los Angeles, California, United States, 90095
        • Recruiting
        • University of California, Los Angeles
        • Contact:
        • Principal Investigator:
          • Perry Shieh, MD PhD
      • Stanford, California, United States, 94305
        • Recruiting
        • Stanford University
        • Principal Investigator:
          • Carolina Tesi-Rocha, MD
        • Contact:
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Recruiting
        • Ann & Robert H. Lurie Children's Hospital of Chicago
        • Principal Investigator:
          • Nancy Kuntz, MD
        • Contact:
    • Iowa
      • Iowa City, Iowa, United States, 52242
        • Recruiting
        • University of Iowa Stead Family Children's Hospital
        • Principal Investigator:
          • Katherine Mathews, MD
        • Contact:
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • Recruiting
        • National Institute of Neurological Disorders and Stroke, NIH
        • Principal Investigator:
          • Reghan Foley, MD
        • Contact:
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
    • Minnesota
      • Saint Paul, Minnesota, United States, 55108
        • Recruiting
        • University of Minnesota
        • Principal Investigator:
          • Peter Kang, MD
        • Contact:
    • Missouri
      • St Louis, Missouri, United States, 63130
        • Recruiting
        • Washington University in St. Louis
        • Principal Investigator:
          • Craig Zaidman, MD
        • Contact:
    • New York
      • Rochester, New York, United States, 14627
        • Recruiting
        • University of Rochester
        • Principal Investigator:
          • Bo Hoon Lee, MD
        • Contact:
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Recruiting
        • Cincinnati Children's Hospital Medical Center
        • Principal Investigator:
          • Cuixia Tian, MD
        • Contact:
      • Columbus, Ohio, United States, 43205
        • Recruiting
        • Nationwide Children's Hospital
        • Sub-Investigator:
          • Lindsay Alfano, DPT
        • Principal Investigator:
          • Anne M Connolly, MD
        • Sub-Investigator:
          • Megan Waldrop, MD
        • Contact:
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15224
        • Recruiting
        • Children's Hospital of Pittsburgh
        • Principal Investigator:
          • Hoda Abdel-Hamid, MD
        • Contact:
    • Texas
      • Dallas, Texas, United States, 75235
        • Recruiting
        • University of Texas Southwestern
        • Principal Investigator:
          • Kaitlin Batley, MD
        • Contact:
    • Utah
      • Salt Lake City, Utah, United States, 84112
        • Not yet recruiting
        • University of Utah
        • Contact:
        • Principal Investigator:
          • Russell Butterfield, MD PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

No

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.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Validate the change over 24 months using the Neuromuscular Gross Motor Outcome
Time Frame: 24 months
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)
Time Frame: 24 months
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
Time Frame: 24 months
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
Time Frame: 24 months
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
Time Frame: 24 months
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 Outcome Measures

Outcome Measure
Measure Description
Time Frame
Validate CK Biomarkers
Time Frame: From enrollment to the end of observation at 2 years.
Blood will be drawn at each in-person visit to test Creatine Kinase, a muscle enzyme, and to store biomarkers for future research.
From enrollment to the end of observation at 2 years.
Muscle Ultrasound
Time Frame: 24 months
Biceps or Quadriceps thickness will be measured in the middle of the muscle using standard ultrasound guidance.
24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nationwide Children's Hospital

Collaborators

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

Investigators

  • Principal Investigator: Anne M Connolly, MD, Nationwide Childrens Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 12, 2025

Primary Completion (Estimated)

September 1, 2028

Study Completion (Estimated)

September 1, 2028

Study Registration Dates

First Submitted

June 21, 2024

First Submitted That Met QC Criteria

July 9, 2024

First Posted (Actual)

July 16, 2024

Study Record Updates

Last Update Posted (Actual)

April 8, 2026

Last Update Submitted That Met QC Criteria

April 6, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Ready CMD LAMA2
  • 1U01NS124961-01A1 (U.S. NIH Grant/Contract)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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

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