Observing the progression of LAMA2-related muscular dystrophies in children

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

This observational study aims to characterize the disease course and clinical features of children diagnosed with LAMA2-related dystrophies, specifically focusing on Merosin Deficient Congenital Muscular Dystrophy. Over a two-year period, participants will undergo comprehensive assessments including muscular and respiratory function, cognitive abilities, quality of life, growth parameters, and biomarker evaluations. The study seeks to establish a well-defined cohort of patients in France for future clinical trials and to validate various outcome measures relevant to the disease. By collecting prospective data, the study aims to reduce bias and variability in results compared to retrospective studies.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
* Subject must be
* Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by:

  * Two pathogenic variants in the LAMA2 gene (via a diagnostic laboratory included on an approved list of genetic testing laboratories (Annex 1)) or
  * Muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene
* Absence of another confirmed neurological 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 all the mandatory study procedures and visits
* Affiliated to or a beneficiary of a French or acknowledged in France, social security scheme

Exclusion Criteria:

* Developmental quotient less than 70 and/or behavioral disorder requiring general anesthesia to perform an MRI
* Acute medical illness or hospitalization within 30 days prior to informed consent
* Participation in a previous trial of any investigational agent for LAMA2-RD, or use of any other investigational therapy within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 5 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 and/or overall fragility of medical status, which in the opinion of the Investigator may confound interpretation of the clinical course of LAMA2-RD
* Pregnant or breastfeeding women

Where it's running

• Plateforme d'essais cliniques pédiatriques iMotion
  Paris, France Recruiting
• Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré
  Garches, France Not yet recruiting
• Service de MPR pédiatrique L'Escale - HCL
  Lyon, France Not yet recruiting
• Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac
  Montpellier, France Not yet recruiting

Study contacts

• Study coordinator: Andreea SEFERIAN, Dr
• Email: a.seferian@institut-myologie.org
• Phone: +33 (0)1 71 73 80 50

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

• 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

• 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

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

  This project will see how children aged 0–5 with LAMA2-related dystrophy move, breathe, and develop over two years to help find reliable outcome measures for future treatments.

  Recruiting at 13 sites Nationwide Children's Hospital · Los Angeles, California and 13 other locations · NCT06503367

• Long-term observation of congenital muscle diseases

  This study is trying to learn more about congenital muscle diseases by collecting information from patients over 10 years to help improve care and treatment options.

  Recruiting Cure CMD · Lakewood, California · NCT01403402

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.