Tracking movement and health in children 0–5 with LAMA2-related congenital muscular dystrophy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

READY CMD LAMA2 is a multicenter, prospective natural-history study enrolling up to 44 children from birth to under 5 years with genetically confirmed LAMA2-related dystrophy, with Nationwide Children’s Hospital planning to enroll 10 participants. Participants complete in-person visits at baseline, months 6, 12, 18, and 24, with additional remote visits at months 3 and 9 and remote comparisons around baseline, month 12, and month 24. Assessments include motor milestone tracking and standardized motor scales (CHOP-INTEND, MFM-20, Bayley-4), neuromuscular exams, respiratory and swallowing evaluations, blood collections, and caregiver questionnaires. The study follows each child for up to 24 months and captures adverse events every three months.

Why it matters

Who can join: the full rules

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.

Where it's running

• University of California, Los Angeles
  Los Angeles, California, United States Recruiting
• Stanford University
  Stanford, California, United States Recruiting
• Ann & Robert H. Lurie Children's Hospital of Chicago
  Chicago, Illinois, United States Recruiting
• University of Iowa Stead Family Children's Hospital
  Iowa City, Iowa, United States Recruiting
• National Institute of Neurological Disorders and Stroke, NIH
  Bethesda, Maryland, United States Recruiting
• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting

Study contacts

• Principal investigator: Anne M Connolly, MD — Nationwide Childrens Hospital
• Study coordinator: Kevin Warf
• Email: ReadyCMDLAMA2@nationwidechildrens.org
• Phone: (614) 355-2765

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Natural history and biomarker mapping for LAMA2-related dystrophy

  It will track how LAMA2-related dystrophy changes over time in children and adults and look for biological markers that match disease features.

  Recruiting Università Vita-Salute San Raffaele · Milan · NCT07125040

• Engineered HMGB1 protein as a companion therapy for LAMA2-related muscular dystrophy

  This study tests how existing patient samples from people with LAMA2-related muscular dystrophy can be used to explore a potential companion therapy using an engineered HMGB1 protein.

  Recruiting IRCCS San Raffaele · Milan · NCT07745218

• Natural history study of LAMA2 muscular dystrophy in children

  This study is trying to understand how LAMA2 muscular dystrophy affects children over time to help improve future treatments.

  Recruiting Hospital Universitari Vall d'Hebron Research Institute · Barcelona, Barcelona · NCT06924125

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.