Study to Find Genetic Factors Affecting Severity of Muscle and Heart Problems in Patients With LMNA Gene Mutations

What this Trial Is About

Researchers are studying striated muscle laminopathies, a group of genetic muscle diseases caused by mutations in the LMNA gene that affect skeletal and heart muscles. These conditions vary widely in symptoms, severity, and age of onset. The study aims to identify genetic factors, called modifier genes, that influence how severe the disease is in different patients, especially those with known LMNA mutations showing a range of clinical presentations. The study collects biological samples, including skin and muscle biopsies, from patients with LMNA mutations who do not have contraindications for these procedures. Skin biopsies involve removing a small piece of skin from areas like the forearm under local anesthesia to grow fibroblast cultures. Muscle biopsies are done under local anesthesia by taking a small muscle tissue sample, typically from the shoulder area, for laboratory analysis. These samples will be used for advanced molecular studies using multi-OMICs techniques to understand gene expression and chromatin structure. Participants will provide samples that are processed and sent to a biological resource center for detailed analysis. The study will measure various outcomes related to muscle and heart disease severity, as well as genetic and molecular factors over five years. Consent and social security affiliation requirements apply, and the study excludes pregnant or breastfeeding women and adults under legal protection. The overall study duration and follow-up involve evaluating changes in muscle and heart conditions alongside genetic findings.

Modifying Factors in Striated Muscle Laminopathies