Hereditary lipodystrophy

This study tests a new drug called mibavademab for people with generalized lipodystrophy, a rare condition where the body lacks fat tissue. The goal is to see if the drug can improve blood sugar, lower blood fats, and reduce liver fat. About 28 children and adults will take part …

This study looks at the long-term safety and effectiveness of a daily injection called metreleptin for people with familial partial lipodystrophy, a rare condition where fat is distributed abnormally. About 24 participants who completed a previous study will receive the drug for …

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…

This expanded access program provides metreleptin (MyaLept) to patients with familial partial lipodystrophy who also have diabetes or very high triglycerides. Metreleptin is already approved for generalized lipodystrophy, but this program aims to help those with the partial form.…

This phase 2 trial tests whether tirzepatide (Mounjaro), a drug already approved for diabetes and weight loss, can improve blood sugar and lower triglycerides in people with partial lipodystrophy—a rare condition where the body loses fat tissue. Researchers will compare tirzepati…

This study aims to find out whether some women diagnosed with polycystic ovary syndrome (PCOS) actually have a rare genetic condition causing severe insulin resistance. Researchers will compare 25 women with a known LMNA gene mutation (linked to lipodystrophy) to 50 women with cl…

This study looks at how fat is stored in people with familial partial lipodystrophy (FPLD), a condition that can lead to diabetes and heart disease. Researchers will compare fat tissue from people with FPLD and healthy volunteers. Participants drink special water and get infusion…

This study follows about 500 people with lipodystrophy (a rare condition where the body loses fat tissue) for 5 to 7 years. Researchers want to find out how often diabetes and very high blood fats (triglycerides) occur, and what health problems they cause. Participants visit once…

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…