Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy
NCT ID: NCT06503367
Last Updated: 2025-08-12
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
RECRUITING
44 participants
OBSERVATIONAL
2025-05-12
2028-09-30
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Participants will undergo:
* Neuromuscular assessments
* Blood collections
* Swallowing and breathing assessments
* Questionnaires
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
NCT01403402
LAMA2-related Muscular Dystrophy Brain Study
NCT01952028
Spanish Natural History Study for LAMA2 Muscular Dystrophy
NCT06924125
Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
NCT06747884
Natural History Study of Children With LAMA2-related Dystrophies
NCT06354790
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
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.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
PROSPECTIVE
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* 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
* 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.
5 Years
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Ann & Robert H Lurie Children's Hospital of Chicago
OTHER
Children's Hospital Medical Center, Cincinnati
OTHER
University of Iowa
OTHER
Washington University School of Medicine
OTHER
Stanford University
OTHER
University of Utah
OTHER
University of Rochester
OTHER
University of Pittsburgh
OTHER
University of Texas, Southwestern Medical Center at Dallas
OTHER
University of Minnesota
OTHER
University of California, Los Angeles
OTHER
Boston Children's Hospital
OTHER
Nationwide Children's Hospital
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Anne M. Connolly
Principle Investigator
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Anne M Connolly, MD
Role: PRINCIPAL_INVESTIGATOR
Nationwide Childrens Hospital
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
University of California, Los Angeles
Los Angeles, California, United States
Stanford University
Stanford, California, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
University of Iowa Stead Family Children's Hospital
Iowa City, Iowa, United States
National Institute of Neurological Disorders and Stroke, NIH
Bethesda, Maryland, United States
Boston Children's Hospital
Boston, Massachusetts, United States
University of Minnesota
Saint Paul, Minnesota, United States
Washington University in St. Louis
St Louis, Missouri, United States
University of Rochester
Rochester, New York, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
Nationwide Children's Hospital
Columbus, Ohio, United States
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States
University of Texas Southwestern
Dallas, Texas, United States
University of Utah
Salt Lake City, Utah, United States
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
Ready CMD LAMA2
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.