Natural history and biomarker mapping for LAMA2-related 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

This multicenter, observational project will combine retrospective chart review with prospective annual clinical assessments over two years in about 40–45 children and adults with genetically or biopsy-confirmed LAMA2-RD. Participants will undergo standardized evaluations of cardiac, peripheral nerve, respiratory, nutritional, skeletal, and cognitive function, plus quality-of-life measures and biosample collection, with cardiac MRI included for detailed cardiac assessment. The study aims to define the prevalence and characteristics of cardiomyopathy and peripheral neuropathy, compare severity across phenotypes and ages, and identify biomarkers that correlate with disease course. Results are intended to refine disease nomenclature and improve clinical trial readiness by informing inclusion criteria and outcome measures.

Why it matters

Who can join: the full rules

INCLUSION

Diagnosis of LAMA2-related dystrophy confirmed via:

1. Two causative mutations in the LAMA2 gene or Muscle biopsy with absence of
2. merosin (laminin-211) and at least one causative mutation in the LAMA2 gene or

   * Consistent phenotype and affected siblings with criteria a) or b) and
   * Ability to participate in study visits at least every 12 months during a 24 months period.
   * Ability to sign informed consent for adults or parents/ legal tutors for children

EXCLUSION

* Lack of a confirmed diagnosis of LAMA2-relate dystrophy
* Inability to participate in study visits at least every 12 months
* Medical fragility which precludes the ability to safely travel to the study site and/or participate in the study assessments

Where it's running

• Irccs Ospedale San Raffaele
  Milan, Italy Recruiting

Study contacts

• Study coordinator: Alberto A Zambon, MD, PhD
• Email: neuromuscolare@hsr.it
• Phone: +390226435080

Similar studies

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

• 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

• Observing the progression of LAMA2-related muscular dystrophies in children

  This study is looking at how LAMA2-related muscular dystrophies affect children over time to better understand the disease and help prepare for future treatments.

  Recruiting Institut de Myologie, France · Garches and 3 other locations · NCT06354790

• 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.