Actively Recruiting
Establishing Clinical Trial Readiness for Children 0-5 Years With Congenital Muscular Dystrophy Secondary to LAMA2 Mutations (READY CMD LAMA2)
Led by Nationwide Children's Hospital · Updated on 2026-04-08
44
Participants Needed
14
Research Sites
N/A
Total Duration
On this page
Sponsors
N
Nationwide Children's Hospital
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
This observational study aims to understand how young children aged 0 to 5 years with LAMA2-related congenital muscular dystrophy (LAMA2-RD) move and change over time, while also examining the effects of this condition on other body systems. The study is designed to follow the natural history of LAMA2-RD and identify early outcome measures for this rare condition. Researchers plan to enroll around 44 children across multiple centers to gather comprehensive data. Participants will attend in-person visits at baseline, 6, 12, 18, and 24 months, with additional remote visits at months 3, 9, 15, and 21 to compare outcomes. Physical and neuromuscular assessments appropriate for age will be performed, including motor milestone evaluations, neuromuscular outcome scores, respiratory and swallowing assessments, and muscle ultrasound at some sites. Blood samples will be collected at each in-person visit for biomarker research, and medical records will be reviewed for standard care data. Throughout the study, caregivers will complete questionnaires about quality of life and disability, while clinicians evaluate global impressions of change. Safety is monitored through adverse event reporting every three months. The total participation lasts up to 24 months, with encouragement to complete an end-of-study visit if participants discontinue early. This study tracks how motor function and development evolve in young children with LAMA2-RD over two years.
CONDITIONS
Brief Title
Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Signed informed consent by the subject, parent(s), or legally authorized representative and assent by the subject when applicable
- Subject aged from birth to less than 5 years at time of consent
- Confirmed diagnosis of LAMA2-related dystrophy by two pathogenic variants in the LAMA2 gene or muscle biopsy showing absence of merosin and at least one pathogenic LAMA2 variant
- No other confirmed genetic disease
- Willingness to maintain current exercise and/or physical therapy during the study
- Willingness to comply with all study procedures and visits
You will not qualify if you...
- Acute medical illness or hospitalization within 30 days before consent
- Participation in any investigational trial or use of investigational therapy for LAMA2-RD within 30 days before consent
- Participation in other clinical studies within 30 days before consent that may affect study results
- Other significant medical conditions that may interfere with interpretation of LAMA2-RD clinical course according to the investigator
AI-Screening
AI-Powered Screening
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Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to approximately 24 months
Participants are observed through scheduled in-person and remote visits to evaluate the natural history of LAMA2-related congenital muscular dystrophy and assess motor and physical development.
In-person visits at Baseline, Month 6, Month 12, Month 18, and Month 24; remote visits at Months 3, 9, 12, and 24; phone calls at Months 3, 9, 15, and 21
Trial Site Locations
Total: 14 locations
1
University of California, Los Angeles
Los Angeles, California, United States, 90095
Actively Recruiting
2
Stanford University
Stanford, California, United States, 94305
Actively Recruiting
3
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States, 60611
Actively Recruiting
4
University of Iowa Stead Family Children's Hospital
Iowa City, Iowa, United States, 52242
Actively Recruiting
5
National Institute of Neurological Disorders and Stroke, NIH
Bethesda, Maryland, United States, 20892
Actively Recruiting
6
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
7
University of Minnesota
Saint Paul, Minnesota, United States, 55108
Actively Recruiting
8
Washington University in St. Louis
St Louis, Missouri, United States, 63130
Actively Recruiting
9
University of Rochester
Rochester, New York, United States, 14627
Actively Recruiting
10
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Actively Recruiting
11
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Actively Recruiting
12
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Actively Recruiting
13
University of Texas Southwestern
Dallas, Texas, United States, 75235
Actively Recruiting
14
University of Utah
Salt Lake City, Utah, United States, 84112
Not Yet Recruiting
Research Team
K
Kevin Warf
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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