Mandibuloacral dysplasia with type B lipodystrophy

This program provides expanded access to REGN4461 (mibavademab) for people with rare diseases caused by deficient leptin signaling, such as generalized lipodystrophy and monogenic obesity. The drug aims to help control metabolic issues linked to these conditions. Participants rec…

Laminopathies and emerinopathies are rare disorders caused by mutations in the LMNA or EMD genes, often affecting skeletal muscles and the heart. Researchers at French hospitals are building a registry of 800 patients with confirmed mutations to record detailed genetic, neurologi…

This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…

This study is a European registry for people with lipodystrophy, a rare condition where the body loses or lacks fat tissue. Researchers will follow up to 5,000 patients over time, collecting health data and genetic information. The goal is to better understand the disease, its pr…