Monogenic diabetes

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

This study follows 630 people with type 1 diabetes in Japan who are already prescribed Awiqli, a once-weekly injection. Researchers will track side effects and blood sugar control over one year to see how the drug works in everyday life. The goal is to manage diabetes, not cure i…

This study tests whether a continuous glucose monitor (CGM) helps control blood sugar better than standard finger-stick checks for people with diabetes who are recovering at home through Mayo Clinic's Advanced Care at Home program. About 100 participants will use the Dexcom G6 PR…

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 new drug called dorzagliatin in 44 adults with a rare, inherited form of diabetes (GCK-MODY). The drug works by activating a key enzyme to help the body better control blood sugar. Participants will receive both the drug and a placebo at different times to see …

This study is testing a new continuous glucose monitoring system called ROME GS in 60 adults with type 1 or type 2 diabetes. The goal is to see if it measures blood sugar accurately and is safe to use. Participants will wear the sensor and have their glucose levels checked agains…

This study is testing a new glucose monitoring system called Eversense Gemini, which includes a flash glucose measurement feature. The goal is to see how accurate and safe it is for adults with type 1 or type 2 diabetes. About 80 participants will wear the device and have their g…

This study tests a two-step transplant for children with type 1 diabetes who also have an immune deficiency. First, they receive umbilical cord blood stem cells to rebuild their immune system. Then, if that works well, they get a transplant of insulin-producing islet cells. The g…

This study tests liraglutide, a drug used for type 2 diabetes, in 50 adults with MODY, a rare genetic form of diabetes. The goal is to see if it improves blood sugar control and reduces stomach issues like nausea. Researchers will also study participants' cells to understand why …

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This study tests a virtual peer support program for people with type 1 diabetes and their loved ones across Canada. Participants join small online meetings and larger webinars to share experiences and reduce diabetes distress. The program is designed by researchers who also live …

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

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 at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

This study at the National Institutes of Health is looking at 1,000 adults with known or suspected hormone gland (endocrine) disorders. The goal is to better understand these conditions and help train doctors. Participants may receive tests, treatments, or surgery as part of thei…

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 tests a program called SPARK-CGM that helps primary care clinics prescribe continuous glucose monitors (CGM) to people with diabetes. CGM devices track blood sugar in real-time, but they are underused in primary care. The program provides training, workflow support, an…

This study aims to collect medical data and biological samples (blood, urine, stool, and tissue) from up to 4,000 adults with known or suspected gastrointestinal diseases. Participants receive standard medical care at the NIH, and any extra samples or leftover tissue from procedu…

This study is collecting health data from 1,500 adults with diabetes in Switzerland to see how well current treatments work in everyday life. Researchers will track complications, quality of life, and survival over time. The goal is to find out what's working and what needs impro…

This study reviews medical records of 500 adults treated for benign or malignant pancreatic diseases since 2005. The goal is to understand how well different treatments worked over time. No new treatments are given—just careful analysis of past cases.

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 looks at whether a genetic risk score can predict which people with newly diagnosed diabetes will eventually need insulin. Researchers will follow about 3,000 patients aged 14 to 50 for up to 3 years, tracking their C-peptide levels (a marker of insulin production) and…

This study is checking how accurate the Dexcom G7 continuous glucose monitor is for patients in the intensive care unit after major abdominal surgery or organ transplant. Researchers will place two sensors on each patient—one that is calibrated and used to guide insulin dosing, a…

This study is collecting blood samples from 1,160 people with and without type 1 diabetes to analyze the immune cells that mistakenly attack the pancreas. The goal is to better understand how these cells work, which could lead to improved treatments or prevention strategies in th…

This study looks at how a supplement called nicotinamide riboside (NR) and a low-carb, high-fat 'ketogenic' diet affect the way the body burns fat and uses energy. Researchers will measure changes in metabolism in 100 overweight or obese adults. Participants will eat a standard d…

This study enrolls adults with known or suspected endocrine (hormone gland) disorders, such as diabetes or thyroid disease, to help researchers learn more about these conditions. Participants will undergo medical exams, blood and imaging tests, and possibly genetic testing. The m…

This study is a large registry that will follow 20,000 people with type 1 diabetes across China. It aims to track changes in blood sugar, kidney function, heart health, and emotional well-being over many years. The goal is to better understand how the disease progresses and impro…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

This study is creating a large digital registry to find and understand rare forms of diabetes caused by a single gene (monogenic diabetes). Researchers will enroll up to 5,000 people in China who were diagnosed with diabetes at a young age and test their DNA. The goal is to learn…

This study follows 36 people with type 1 diabetes who have received a pancreatic islet transplant. Researchers will use continuous glucose monitors to see if a measure called 'Time in Tight Range' can detect early loss of graft function. The goal is to find a simple way to spot p…

This study takes a small sample of skin, blood, or urine from people with diabetes and healthy volunteers. Scientists will turn those cells into stem cells and then into insulin-producing cells in the lab. The goal is to learn more about diabetes and pave the way for future cell-…

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

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 people with rare genetic changes that affect beta cells, which control blood sugar. Researchers will collect blood samples and optional MRI scans to find biomarkers and understand how these genes change body function. No treatment is given, and participants co…

This study tracks 1,000 patients undergoing major liver, pancreas, or bile duct surgery to see if the time it takes for their albumin levels to return to normal can predict complications and length of hospital stay. Albumin is a protein that drops after surgery due to inflammatio…

This early-phase study looks at whether reducing high insulin levels (common in type 1 diabetes) with an SGLT2 inhibitor can improve heart and blood sugar health. Researchers will compare people with type 1 diabetes, those with a mild genetic diabetes (GCK-MODY), and healthy volu…

This study looks at babies diagnosed with type 1 diabetes before age 2, a rare and extreme form of the disease. Researchers want to understand what goes wrong in the immune system to cause such early onset. By studying these children and comparing them to others with diabetes and…

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

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 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…