Inborn carbohydrate metabolic disorder

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 tests whether wearing a continuous glucose monitor (CGM) for 3 months helps adults with prediabetes better control their blood sugar and stick to lifestyle changes compared to standard finger-prick testing. About 80 participants will be randomly assigned to use a CGM o…

This early-stage trial is testing a new drug called DNL952 in 32 adults with late-onset Pompe disease. The main goal is to check if the drug is safe and how the body processes it. Participants will receive the drug through an IV infusion at different doses.

This study tests an experimental oral drug called S-606001 in 45 adults with late-onset Pompe disease. Participants take the drug or a placebo on top of their standard enzyme replacement therapy. The main goal is to see if the drug improves lung function and walking ability over …

This study tests whether adding AGuIX gadolinium-based nanoparticles to standard brain radiation can better control brain metastases that are at high risk of coming back. About 134 adults with certain cancers (like melanoma, lung, breast, or colorectal) that have spread to the br…

This trial tests a one-time gene therapy called UX111 for children with Sanfilippo A, a rare genetic disorder that causes severe brain damage. The therapy delivers a working copy of the missing gene to cells. Researchers will measure whether it reduces harmful substances in the b…

This study tests whether a program called Sisters for Heart Health can help farmworker women ages 18-50 reduce stress, feel less isolated, and improve their heart health. Participants will join weekly peer support groups led by trained community health workers for 10 weeks. The s…

This study investigates whether continuous glucose monitor (CGM) data can pinpoint the time of day when a person with prediabetes experiences the largest blood sugar spikes after eating. Participants wear a CGM and activity tracker for 10 days to identify their personal 'vulnerab…

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 whether giving people a live gut bacterium called Oxalobacter formigenes can lower the amount of oxalate in their urine. High urinary oxalate is a major risk factor for calcium oxalate kidney stones. Forty adults with a history of such stones who lack this bacter…

This study tests a single intravenous dose of a gene therapy called AB-1009 in 12 adults with late-onset Pompe disease. Participants must have been on enzyme replacement therapy for at least 6 months. The main goal is to check safety and side effects, while also seeing if the tre…

This study tests whether personalized marketing messages and discounts can encourage people with prediabetes or type 2 diabetes to switch from refined grains to whole grains when shopping for groceries online. About 216 adults aged 45-70 from the Philadelphia area who already sho…

This study tests a new medicine called ersodetug for people whose tumors cause dangerously low blood sugar that standard treatments can't control. About 16 adults with insulin-producing tumors will receive the drug alongside their usual care. The main goal is to see if ersodetug …

This study tests whether a weekly injection of dulaglutide, a GLP-1 drug used for diabetes, can improve early insulin release in adults with cystic fibrosis who have trouble processing sugar. About 30 participants will receive the drug or no drug in a crossover design. The goal i…

This study tests whether a sugar called L-fucose can improve movement and coordination in adults with GLUT1 deficiency syndrome, a rare genetic disorder that affects the brain's energy supply. Sixteen participants will receive either fucose or a placebo for a period, then switch,…

This study is testing whether a healthy diet centered around beef can reduce inflammation and improve metabolic health better than a standard U.S.-style diet based on USDA guidelines. Researchers will enroll 56 adults with metabolic syndrome or pre-diabetes and assign them to one…

This study tests whether using a sit-stand desk at work can improve insulin sensitivity and reduce diabetes risk in 198 overweight, sedentary adults with prediabetes or other risk factors. Participants are randomly assigned to stand 2 or 3 hours per day at a sit-stand desk, or to…

This study tests a gene therapy called RP-A501 in 14 males with Danon disease, a rare genetic condition that causes heart problems. The treatment uses a harmless virus to deliver a working copy of the LAMP2 gene, aiming to improve heart muscle function and reduce thickening. Part…

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 looks at how fat cells work differently in normal-weight people with type 2 diabetes compared to those without diabetes. Researchers will test two drugs, pioglitazone and tirzepatide, to see if they improve insulin resistance and fat storage. About 104 adults aged 30-7…

This program offers continued treatment with idursulfase-IT (TAK-609), given directly into the spinal fluid, plus standard intravenous Elaprase, for children and adults with Hunter syndrome who have cognitive impairment. It is only open to people who completed earlier studies of …

This program provides expanded access to Mepsevii for people with MPS VII (Sly Syndrome) who have no other treatment options. It is designed for individual patients on a case-by-case basis. The goal is to offer a potential treatment when no alternatives exist.

This study tests whether taking a daily probiotic (Lab4P) for 12 weeks can improve memory, thinking speed, and blood sugar control in overweight adults aged 18-40 with prediabetes (mildly high blood sugar). Seventy participants will be randomly assigned to receive either the prob…

This early-stage study tests whether ISP-001 is safe and tolerable in 11 people with a rare genetic disease called MPS I (Hurler-Scheie or Scheie types). Participants receive the experimental treatment and are monitored for side effects. The goal is to gather safety data for futu…

This study tests whether a drug called glycerol phenylbutyrate (RAVICTI®) can reduce fatigue and improve daily life for people with pyruvate dehydrogenase (PDH) deficiency, a rare genetic condition that affects energy production. About 15 children and young adults (ages 2 to 25) …

This study tests whether eating peanuts and peanut products daily for six months can improve blood sugar, blood pressure, thinking skills, and gut health in people with prediabetes. Researchers will enroll 72 adults from diverse racial backgrounds. Participants will eat different…

This study tests whether a daily dose of freeze-dried wild blueberry powder can improve blood sugar, blood pressure, and brain function in women with prediabetes. Thirty overweight women aged 20-65 will take either the blueberry powder or a placebo for six weeks. Researchers will…

This study tests a drug called avalglucosidase alfa in 13 Chinese children with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and heart problems. Participants will receive the drug through an IV every two weeks for about a year. The goa…

This study tests whether giving enzyme replacement therapy to fetuses with certain rare genetic diseases (like MPS I, Gaucher, or Pompe) before birth is safe and feasible. About 10 pregnant participants will receive the treatment through the umbilical vein. The goal is to see if …

This study looks at how safe and effective primaquine is for treating vivax malaria in people with intermediate or deficient G6PD enzyme levels. About 100 adults with confirmed malaria and G6PD deficiency will receive either a high daily dose or a weekly dose of primaquine. The g…

This study tests whether taking a combination of Akkermansia muciniphila (a beneficial gut bacterium) and berberine (a plant compound) can improve insulin sensitivity in night-shift workers. 200 participants from healthcare and industry in Austria and Denmark will receive either …

This early study is testing a drug called triheptanoin (Dojolvi) in children with pyruvate dehydrogenase complex (PDC) deficiency, a rare genetic condition that affects energy production. The trial will enroll 6 children aged 1 to 18 and look at safety, side effects, and changes …

This small pilot study is testing whether eating Greek bottarga (grey mullet fish roe) every day can improve blood sugar, cholesterol, and inflammation in adults with prediabetes, diabetes, or obesity. About 20 participants will compare the effects of bottarga against a dairy pro…

This study tests a new gene therapy called ABO-101 for people with Primary Hyperoxaluria Type 1 (PH1), a rare genetic disorder that causes kidney stones and kidney damage. The trial will first test single doses in adults to find the safest dose, then test that dose in children. R…

This study tests whether limiting all eating to a consistent 10-hour window each day can improve blood sugar, cholesterol, and other health measures in people with metabolic syndrome or prediabetes. About 140 adults will either follow this eating schedule plus standard nutritiona…

This study tests whether mirabegron (a bladder medication) and tadalafil (used for erectile dysfunction) can improve blood sugar control in people with prediabetes and obesity. About 96 adults will take one or both drugs or a placebo for 14 weeks. The goal is to see if these drug…

This study tests whether keeping a consistent daily routine—like eating and sleeping at the same times—can improve blood sugar control and reduce body fat in people with pre-diabetes. Researchers will enroll 34 adults and ask half to follow a fixed schedule for 12 weeks. The goal…

This Phase 3 trial is testing a combination of two drugs—cipaglucosidase alfa (an enzyme replacement therapy) and miglustat (an oral medication)—in children with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and the heart. The study includes both chi…

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This phase 2 study tests a drug called nedosiran (DCR-PHXC) in 28 people with primary hyperoxaluria type 1 (PH1) who have severe kidney impairment, with or without dialysis. The goal is to see if the drug safely lowers plasma oxalate levels, which can cause kidney stones and dama…

This study tests a new drug called ION283 in 10 people aged 10 to 18 with Lafora disease, a rare and severe form of epilepsy. The drug is given via a spinal injection to see if it is safe and can help control seizures and other symptoms. All participants will receive the same dos…

This study tests a new gene therapy called BEAM-301 in 36 adults with glycogen storage disease type Ia (GSDIa) who have a specific gene change. The goal is to see if a single dose can safely improve blood sugar control and reduce the need for cornstarch supplements. Participants …

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 study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This study tests whether wearing a continuous glucose monitor (CGM) alongside lifestyle changes can improve insulin sensitivity in teens aged 10-17 with prediabetes. Fifteen overweight or obese participants will use the Dexcom G7 device to see real-time glucose data, aiming to bo…

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 several affordable oral medications—including semaglutide, empagliflozin, metformin, and pioglitazone—to see if they can reverse prediabetes, promote weight loss, and lower heart disease risk in Hispanic adults. Researchers will monitor blood sugar, body fat, and…

This expanded access program provides ATB200/AT2221 to people with Pompe disease who cannot join ongoing clinical trials or choose not to use standard therapy. The treatment combines an enzyme replacement therapy with a chaperone drug to help break down glycogen buildup. Particip…

This expanded access program offers a new treatment combination (ATB200 and AT2221) to children with infantile-onset Pompe disease who are not eligible for other clinical trials and are declining on standard enzyme replacement therapy. The goal is to provide access to this experi…

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

This early-phase study tests a new drug called JR-446 in 10 children with mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B), a rare genetic disease that affects the brain and body. The drug is given through an IV and aims to be safe and possibly help manage the conditi…

This study aims to see if a home lactate meter and a standard glucose meter give accurate readings compared to lab tests in people with glycogen storage disease types Ia, Ib, and XI. Ten participants will have an 8-hour hospital stay with hourly blood draws and finger-stick tests…

This study compares a self-administered oral glucose tolerance test (OGTT) at home using a continuous glucose monitor (CGM) with the standard clinic-based OGTT. 75 adults with prediabetes will undergo both tests to see if the home version accurately diagnoses blood sugar problems…

This study tests whether a special PET scan using a radioactive tracer called FDOPA can accurately find and locate focal lesions in the pancreas of infants with congenital hyperinsulinism, a condition causing severe low blood sugar. The goal is to help surgeons remove only the di…

This study offers expanded access to a PET scan using a radioactive tracer called 18F-DOPA to locate small, insulin-producing lesions in the pancreas. It is for patients with congenital hyperinsulinism, Beckwith-Wiedemann syndrome, or insulinoma who have low blood sugar. The goal…

This phase 3 study is testing an improved PET/CT imaging method using a radioactive tracer called 18F-DOPA. Researchers want to see if it can better detect small lesions and reduce image artifacts in patients with conditions like congenital hyperinsulinism, neuroblastoma, neuroen…

This study is testing whether a special PET/MRI scan using 18F-DOPA can accurately locate small, overactive areas in the pancreas that cause too much insulin (hyperinsulinism). The goal is to help doctors decide if surgery can remove just the problem spot, potentially curing the …

This study aims to identify people at increased risk of developing type 1 diabetes by testing for specific markers in the blood called autoantibodies. Children and adults aged 1 to 45 who have a family member or close friend diagnosed with type 1 diabetes before age 45 can join. …

This study tests whether ursodeoxycholic acid (UDCA), a drug used for bile duct problems, can stop statins from raising blood sugar. 128 adults with high cholesterol but normal blood sugar will take either UDCA or a placebo alongside atorvastatin for 6 months. Researchers will tr…

This study tests a 3-year lifestyle program for 1,305 Brazilian adults at high risk for type 2 diabetes. The program combines in-person and online counseling on diet, exercise, sleep, and stress. Researchers will track who develops diabetes and measure weight, blood sugar, and qu…

This study tests whether a natural bile acid called 7-Ketolithocholic Acid, taken as a supplement, can lower blood sugar levels in 100 adults with prediabetes. Participants will also follow a healthy diet and exercise plan. The goal is to see if this supplement can help prevent o…

This study tests whether the drug semaglutide can prevent type 2 diabetes in women who had gestational diabetes and now have high blood sugar after pregnancy. About 252 women will receive either semaglutide or a placebo for several months. The goal is to see if the drug lowers th…

This study looks at whether drinking regular milk can lower the risk of type 2 diabetes in people with lactose intolerance who also have pre-diabetes. Researchers will compare regular milk to lactose-free milk over 12 weeks in 40 adults. They will measure changes in gut bacteria,…

This phase II trial tests whether a special form of nicotinic acid (a B vitamin) can reverse prediabetes and prevent type 2 diabetes. About 390 adults with prediabetes will take either a low or high dose of the drug or a placebo daily for 26 weeks, along with lifestyle advice. Th…

This study tests whether a diet tailored to a person's unique metabolism (called a 'metabotype') can prevent type 2 diabetes better than standard healthy eating advice. Overweight or obese adults at risk for diabetes will follow either a personalized or standard diet for 12 month…

This study tests whether adding reminders to electronic medical records helps doctors better manage pre-diabetes. About 6000 adults with pre-diabetes will take part. Some clinics will use the reminders, others won't. The goal is to see if the prompts lead to more blood tests, ref…

This study tests whether giving lactase enzyme drops with formula milk can prevent feeding intolerance in very premature infants (≤32 weeks). 120 babies will receive either lactase or placebo for 14 days. Researchers will track vomiting, stomach swelling, and leftover milk in the…

This study tests whether cannabidiol (CBD) can safely improve behavior, mood, sleep, and daily function in people with Sanfilippo syndrome, a rare genetic disorder. Thirty-five participants will receive either CBD or a placebo, then switch after a break. Caregivers will report on…

This study tests whether adding a medicine called ursodeoxycholic acid (UDCA) to standard light therapy helps clear jaundice faster in newborns. About 70 babies born at 34 weeks or later with jaundice will be randomly assigned to receive either light therapy alone or light therap…

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

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 follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases…

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 follows people who previously took part in type 1 diabetes trials to see how long their bodies continue to produce insulin. Researchers will also look at how immune system changes relate to insulin production. The goal is to gather information that could lead to better…

This study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is giv…

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 global registry enrolls people with Pompe disease to track how the condition changes over time, whether they receive treatment or not. By collecting data from up to 2,000 participants, researchers hope to better understand the disease's progression and improve patient care. …

This study aims to better understand how Pompe disease affects the nerves and muscles involved in breathing. Researchers will analyze nerve conduction and diaphragm activity in 20 adults with Pompe disease or unexplained respiratory failure. The goal is to identify patterns that …

This study looks at whether freezing ovarian tissue can help preserve fertility in people aged 2-21 with conditions like Turner syndrome, galactosemia, or premature ovarian insufficiency. Participants may have surgery to remove and freeze a gonad, with a small piece used for rese…

This study looks at what happens when adults with metabolic syndrome stop taking their usual metformin medication for 14 days. Researchers want to see if a short break affects insulin sensitivity, blood sugar levels, and other health markers. Participants will be randomly assigne…

This study monitors up to 50 people with MPS VII (Sly Syndrome) to understand how the disease changes over time. It also checks the long-term safety and effectiveness of the drug vestronidase alfa. Participants may or may not be taking the drug, and the study involves regular che…

This observational study looks at whether taking raw cornstarch with meals helps control blood sugar in adults with glycogen storage disease type I (GSD I). Eight participants will wear continuous glucose monitors and keep food diaries for two weeks. Researchers will compare bloo…

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 aims to develop a better way to measure how the brain uses sugar (glucose) for energy. Researchers will use advanced MRI-like scans at 3 or 7 Tesla strength in 20 healthy volunteers and people with Glut1 deficiency, a rare condition that affects brain fuel. Participant…

This study tracks the natural course of fucosidosis, a rare genetic disorder, in up to 57 people. It collects medical history and ongoing health data without giving any experimental treatment. The goal is to better understand the disease and help design future therapies.

This observational study follows people with Glycogen Storage Disease Type Ia who have already received the gene therapy DTX401. The goal is to track their health and safety for at least 10 years after treatment. No new drugs or treatments are given in this study. It will help re…

This study aims to find out if people who get calcium oxalate kidney stones absorb more oxalate from food than healthy people. Researchers will compare stone formers and healthy volunteers by having them eat special diets and measuring oxalate in urine, blood, and stool. The goal…

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 looks at whether giving tube feedings during the day instead of at night can improve sleep and body rhythms in patients recovering from heart surgery in the ICU. Researchers will monitor sleep patterns and body temperature in 30 adults. The goal is to learn if simple c…

This study is for children with Morquio A, a rare genetic disease that affects bones and breathing. Researchers will use safe, non-invasive tests like MRI, X-rays, hearing tests, and walking analysis to track how the disease changes over time. The goal is to better understand the…

This study looks at whether adults with glycogen storage disease type I (GSDI) can safely include more fructose and galactose in their diet. Currently, patients must avoid these sugars, which limits food choices. Researchers will give 20 adults either fructose alone or fructose p…

This study follows 30 children and young adults with Sanfilippo syndrome type C, a rare genetic disorder that causes severe brain damage. Researchers will measure changes in development and thinking skills over time using standard tests. The goal is to better understand how the d…

This study looks at how a person's natural sleep pattern (chronotype) affects their body's ability to handle sugar. Researchers will compare blood sugar and insulin responses in 70 overweight young adults (ages 18-23) who are either night owls or early birds. Participants will ta…

This study gathers medical information from 200 people with glycogen branching enzyme deficiency, known as GSD IV or APBD. The goal is to learn how these rare diseases progress over time. No new treatments are tested; instead, researchers review clinic records to better understan…

This study is collecting medical information from 400 people with Glycogen Storage Disease Type VI or Type IX to learn how these rare liver conditions progress over time. Researchers will review patient records from clinic visits to track disease changes, genetic types, and lab r…

This study follows 60 people with Danon disease, a rare genetic heart condition, to learn how it progresses over time. Researchers will monitor heart function and symptoms in males aged 8 and older and females aged 8 to 50. The goal is to gather natural history data that could su…

This study is testing whether following a Mediterranean-style diet based on U.S. dietary guidelines improves heart health more when combined with weight loss. Researchers will provide all meals for 70 adults with obesity or excess body fat for eight weeks. Participants will be sp…

This study tests whether people with prediabetes and obesity change their eating and activity habits when they can see their glucose levels in real time versus when the data is hidden. Thirty-four adults will wear a continuous glucose monitor during both an open and a blinded pha…

This study looks at people with Irritable Bowel Syndrome (IBS) who have a reduced ability to break down starch and sugar due to low enzyme levels. Researchers want to see if these individuals have a smaller rise in blood sugar after a meal and more bowel symptoms compared to thos…

This study looks at whether reducing ultra-processed foods (like chips and sugary drinks) can improve blood sugar levels in healthy Korean adults aged 20-39. Participants will wear a continuous glucose monitor and report their diet for 10 days before and after receiving dietary c…

This study follows pregnant women with Pompe disease to see how the condition and its treatments affect pregnancy and infant growth. Researchers will track complications and monitor babies for up to three years after birth. No new drugs are being tested; participants receive thei…

This study aims to find the specific genes and mutations that cause rare, inherited forms of kidney stone disease. Researchers will analyze DNA from up to 6,000 participants to understand how these genetic changes lead to stones. The goal is to use this knowledge to develop bette…

This study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…

This study follows up to 400 children with Pompe disease to see how their immune system reacts to enzyme replacement therapy. Researchers will collect medical records from birth to age 18 to understand which children develop antibodies that block treatment. The goal is to improve…

This study uses the FreeStyle Libre 3 continuous glucose monitor to record blood sugar levels in 2,000 adults, both with and without prediabetes. The goal is to identify patterns that could help spot prediabetes earlier. Participants wear the monitor for a period while going abou…

This study looks at whether routine blood sugar tests (like fasting glucose and HbA1c) can predict gestational diabetes in pregnant women who have had bariatric surgery and cannot tolerate the standard sugary drink test. Researchers will follow 84 women throughout pregnancy to se…

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 looks at how different amounts of supervised indoor cycling change gut bacteria and related substances in healthy men aged 18 to 45. Participants will be placed into one of three groups: no structured training, moderate cycling, or high-load cycling. Researchers will m…

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 study follows 180 children in Italy born with biotinidase deficiency, a rare condition that can cause skin, eye, and nerve problems if untreated. Researchers will compare each child's genetic makeup with their enzyme activity levels and health outcomes. The goal is to better…

This study is a global registry that will follow about 500 people with Pompe disease over time. It includes both treated and untreated patients, and aims to collect real-world data on treatment safety, effectiveness, and quality of life. No new treatments are being tested—this is…

This study follows 60 girls and women with classic galactosemia, a rare genetic condition that affects how the body processes sugar. Researchers want to understand why many develop early ovarian failure and how puberty progresses. By tracking hormone levels and growth, they hope …

This study aims to learn how Pompe disease affects the brain and nerves over the long term. Researchers will use brain scans, thinking and language tests, and muscle checks in 45 people with Pompe disease. Participants will be followed for 3 to 6 years. No new treatment is being …

This study looks at whether portable lactate monitors (like those used at home) give accurate results for people with glycogen storage disease type Ia. Ten participants will have their lactate and glucose levels measured by finger-stick and by standard lab tests. The goal is to s…

This observational study will follow up to 1,000 people in France with mucopolysaccharidosis (MPS), a group of rare genetic disorders. Researchers will collect medical data from patient records and ongoing checkups to map how the diseases progress and how current treatments affec…

This study is collecting information from children and adults with pyruvate dehydrogenase complex deficiency (PDCD), a rare genetic disorder that affects energy production in cells. Researchers will review medical records, ask participants about their health history, and perform …

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 follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This study tests whether wearing a continuous glucose monitor (CGM) helps adults with prediabetes improve their diet and physical activity compared to standard health coaching. 76 participants from a Singapore polyclinic will be randomly assigned to receive either a CGM plus coac…

This study looks at how heart and blood vessel problems develop in people with MPS I and IVA. Over 4 years, 240 participants will get yearly heart ultrasounds, blood tests, and urine tests. The goal is to find reliable markers that can track heart health and guide future treatmen…

This study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

This study gathers safety information from about 100 women with Pompe disease who received Nexviazyme while pregnant or breastfeeding, and from their babies. Researchers will track pregnancy complications, birth outcomes, and infant growth and development through the first year o…

This study tracks 200 people with ultra-rare glycogen storage diseases (GSDs) like types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will collect medical records and other data to see how these conditions progress over time. No treatments or dru…

This study looks at using liver elastography, a non-invasive ultrasound-like technique, to measure liver fibrosis in children with type III glycogen storage disease (GSDIII). The goal is to see if this method can replace painful liver biopsies for monitoring disease progression. …

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 whether a simple breath test can tell if people with moderate to severe irritable bowel syndrome (IBS) will feel better on a lactose-free diet. About 90 adults with IBS will take the breath test and then follow a lactose-free diet for 4 weeks. Researchers will…

This study will screen 7,000 adults in China who are at high risk for diabetes but do not yet have it. Researchers will track blood sugar changes, eye health, and bone density over time. The goal is to find better ways to prevent diabetes and create a new model for managing high-…

This study looks at how a hormone called GLP-1, made in the pancreas, helps control blood sugar in people with prediabetes. Researchers will give a drug that blocks GLP-1 to see how it changes insulin and glucagon release. The goal is to understand why some people with prediabete…

This study aims to understand how a person's weight and blood sugar levels influence the activity of genes in tissues that process sugar and fat. Researchers will collect tissue samples from 20,000 adults undergoing abdominal surgery. The goal is to learn more about the link betw…

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 …

This study compares how well people who report cow milk intolerance digest goat milk versus cow milk. Twenty participants will drink both types of milk on separate days, and researchers will measure digestive discomfort and how nutrients are absorbed. The goal is to see if goat m…

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This study looks at why people with pre-diabetes or type 2 diabetes tire more quickly during leg exercises. Researchers will test a special low-load resistance training program, sometimes with blood flow restriction, to see if it improves muscle strength, blood flow, and energy u…

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 how gastric bypass surgery affects insulin and blood sugar control, focusing on gut hormones and nerve signals. Researchers will compare three groups: people who had the surgery and now have severe low blood sugar, those who had the surgery without symptoms, a…

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…