Observatory for Patients With Laminopathies and Emerinopathies

What this Trial Is About

This research focuses on laminopathies and emerinopathies, which are rare genetic disorders caused by mutations in the LMNA and EMD genes. These conditions often affect skeletal and cardiac muscles, with heart disease being a major cause of death. Since the 1990s, significant progress has been made in understanding their clinical and genetic variations, but precise links between gene mutations and disease symptoms remain unclear. Currently, there are no specific treatments to stop or slow disease progression beyond symptom management. The study is an observational registry called OPALE, designed to collect detailed information on patients in France with confirmed pathogenic LMNA or EMD gene mutations. It gathers genetic, neurological, heart, endocrine, and lung assessment data using a web-based platform. The registry aims to improve knowledge of disease progression, complication rates, and factors that influence prognosis. Participants will undergo yearly comprehensive clinical evaluations for up to 10 years to monitor their condition according to the study protocol. The researchers will track changes over time to better understand how the disease develops. This long-term observation helps provide insight into the natural history of laminopathies and emerinopathies and supports future research and care improvements.

Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)