Lipodystrophy

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study tests a drug called pegvisomant in 25 adults with severe insulin resistance caused by lipodystrophy or insulin receptor gene changes. Participants give themselves daily shots for one month and have two hospital stays for tests. The goal is to see if blocking growth hor…

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 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 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 registry monitors the safety and effectiveness of metreleptin in up to 100 people with generalized or partial lipodystrophy who are already taking the drug in routine care. Researchers will track serious events like pancreatitis, liver problems, infections, and cancers. The …

This study tests a drug called metreleptin in 15 children under 6 years old who have a rare disease called generalized lipodystrophy, which prevents the body from storing fat properly and often leads to diabetes and high triglycerides. The goal is to see if the drug can lower blo…

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 is testing a software tool called Belle.ai that uses artificial intelligence to help doctors diagnose common skin diseases. About 400 patients at dermatology clinics will have three photos taken of their skin condition. The AI will analyze the photos and suggest possib…

This study tests whether Radiesse (calcium hydroxylapatite) injections can restore facial volume and improve skin quality in people who lose facial fullness from GLP-1 weight loss drugs like semaglutide. 48 adults starting GLP-1 therapy will be randomly assigned to receive either…

This study tests a group counseling program called Healing HEARTS to help people with conditions like obesity, skin disease, cancer, HIV, diabetes, or chronic pain deal with internalized stigma. Participants will either join the counseling program or a peer support group. The goa…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study aims to learn more about insulin resistance and diabetes by collecting blood and skin samples from up to 1,200 participants, including patients with severe insulin resistance and their family members. Researchers will study genetics and how insulin works in the body to…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

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 looks at women with lipodystrophy, a condition causing abnormal fat tissue, who have been pregnant. Researchers want to see if taking the drug metreleptin during pregnancy affects the mother's or child's health. About 90 women and their children will share medical hist…

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study collects biological samples—like blood, skin biopsies, and swabs—from people with or at risk for skin diseases, as well as healthy volunteers. Researchers will use these samples to study the causes of skin conditions and explore potential treatments. Up to 700 particip…

This study tests whether a machine learning program can detect lipohypertrophy—hidden lumps under the skin caused by insulin injections—using portable ultrasound. About 100 people with diabetes will first have their injection sites scanned. In a second phase, 40 people found to h…

This study looks at whether people with vascular Ehlers-Danlos syndrome (vEDS), a rare genetic disorder that weakens blood vessels, also have problems with how their body stores and uses fat. Researchers will compare 12-17 adults with vEDS to similar adults without the condition …

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 follows 100 women with early-stage breast cancer for two years after surgery and treatment. Researchers will measure changes in muscle mass, body fat, and strength using simple tests. The goal is to understand how the body recovers and what factors affect quality of li…

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study looks at how skin conditions related to cancer or cancer treatments affect the well-being of cancer patients and survivors. About 1,025 participants will fill out questionnaires about their skin condition. The goal is to better understand these effects and improve trea…

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…

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study looks at why diabetes devices like insulin pumps and continuous glucose monitors can cause skin irritation, eczema, or fatty lumps. Researchers will use non-invasive tools to measure skin health in 150 people with type 1 diabetes. The goal is to find ways to prevent th…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…