Inborn carbohydrate metabolic disorder

This study tests an oral medication called remibrutinib for adults with moderate-to-severe papulopustular rosacea, a skin condition causing red bumps and pustules on the face. The drug works by blocking a protein involved in inflammation. Researchers will measure whether it reduc…

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This study tests whether a once-weekly injectable drug called mazdutide can help adults with prediabetes achieve normal blood sugar levels. About 150 participants will receive either a low dose, a higher dose, or a placebo for 24 weeks, along with diet and exercise advice. The ma…

This early-stage trial tests a new drug called JR-446 in 12 children under 6 with MPS IIIB, a rare genetic disorder that damages the brain and body. The main goal is to see if the drug is safe and tolerable. Researchers will also measure changes in certain substances in the body …

This early-stage study tests whether high-dose Vitamin C is safe for people with two rare inherited blood disorders—Pyruvate Kinase Deficiency (PKD) and a form of G6PD deficiency. Both conditions cause red blood cells to break down too quickly, leading to anemia. The study will e…

This study tests an experimental drug, YOLT-203, in 36 children and adults with primary hyperoxaluria type 1 (PH1), a rare genetic condition that causes painful kidney stones and kidney damage. The goal is to see if a single dose can safely lower oxalate levels in urine and blood…

This phase 3 trial tests a drug called tralesinidase alfa in 14 children aged 1-5 with Sanfilippo syndrome type B, a rare genetic disease that causes severe brain damage. The drug is given directly into the brain fluid to replace a missing enzyme. The goal is to see if it can slo…

This study tests whether a medication called chiglitazar sodium, combined with healthy lifestyle changes, can help people with prediabetes return to normal blood sugar levels. About 472 adults with prediabetes will take either the drug or a placebo for 52 weeks, along with lifest…

This early-stage trial tests a single dose of a gene therapy called DANAGALEX in 9 adults and children with aspartylglucosaminuria (AGU), a rare genetic disorder. The goal is to see if the treatment is safe and can reduce harmful substances in the body. Researchers will monitor s…

This study will test three types of intermittent fasting (5:2, alternate-day, and time-restricted eating) in 120 adults with prediabetes. Researchers will measure changes in blood sugar, cholesterol, body fat, and inflammation over 4-6 weeks. The goal is to see which fasting patt…

This study tests whether a liquid carob extract can improve blood sugar levels in 70 adults with prediabetes. Participants take the extract or a placebo twice daily for 90 days. Researchers will measure blood glucose and insulin responses to see if the extract helps control blood…

This study tests a supplement called GlycoDual in 90 adults with prediabetes (higher-than-normal blood sugar). For 90 days, half will take GlycoDual and half a placebo. Researchers will check if GlycoDual lowers fasting and after-meal blood sugar and improves how the body uses in…

This study tests whether replacing half the wheat in rotis with barnyard millet, barley, or bengal gram flour can lower blood sugar and help reverse prediabetes. 140 adults with prediabetes will eat these special rotis for three months while researchers track their glucose levels…

This trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

This study looks at whether the triglyceride-glucose (TyG) index, a simple measure from a blood test, can predict insulin resistance in people with pre-diabetes and chronic kidney disease. Researchers will enroll 60 adults with and without kidney problems to see how well the TyG …

This pilot study tests whether a single, personalized conversation with a healthcare team member or a brief message through a patient portal can encourage adults with prediabetes to take action—like joining a diabetes prevention program or starting medication. Researchers will co…

This study tests whether two types of fish oil, EPA and DHA, can improve metabolic health in people at high risk for type 2 diabetes. Over 12 weeks, 84 participants will take daily capsules of EPA, DHA, or a placebo (corn oil) and undergo specialized tests to measure insulin func…

This study tests whether combining continuous glucose monitors (CGMs) with group lifestyle sessions can help people with prediabetes lower their blood sugar and prevent type 2 diabetes. Twenty adults with prediabetes will attend regular group meetings on diet, exercise, and stres…

This study tests a 12-session virtual program to help adults with prediabetes in the UAE prevent type 2 diabetes. The program covers diet, physical activity, sleep, and stress management, and is led by a health coach from the same cultural background. Thirty participants will att…

This study looks at whether eating a small handful of almonds (about 18 grams) 30 minutes before a meal can reduce the rise in blood sugar after eating. Researchers will test 25 adults with prediabetes, comparing blood sugar levels after meals with and without almonds. They also …

This study tests whether maple syrup, mixed with water and electrolytes, can improve cycling performance in trained male cyclists. Thirty-two participants will drink different amounts of maple syrup or a placebo during long rides. Researchers will measure how fast they finish a 2…

This study will take 3D scans of the inside of the mouth from 240 people with rare bone or cartilage diseases and from healthy volunteers. Researchers will use shape analysis and artificial intelligence to see if these scans can help tell different diseases apart. The goal is to …

This study uses a wearable glucose sensor and artificial intelligence to understand how healthy adults process sugar. Researchers will track blood sugar patterns for 14 days and link them to diet, activity, and health measures. The goal is to develop personalized nutrition tools …

This study will ask 75 people with diabetes and their healthcare providers about their experience using the Instara-1 continuous glucose monitor. Participants will wear the device and answer questionnaires about comfort, ease of use, and how it helps manage their diabetes. The go…

This study looks at how beta-cells (which make insulin) respond to growth hormone in people with prediabetes. Researchers will measure insulin release in 10 adults with impaired fasting glucose or impaired glucose tolerance. The goal is to better understand what raises the risk o…

This study aims to validate a blood test for measuring oxalate levels, which is currently not available in Israel. Researchers will compare results from a local lab with an external lab using 50 blood samples. They will also explore how vitamin C levels relate to oxalate in patie…

This study looks at whether wearing a continuous glucose monitor (CGM) and receiving education can help teenagers with prediabetes improve their blood sugar levels and adopt healthier behaviors. Twenty-five teens aged 13-17 will take part in a 20-week program, first receiving sta…

This study will look at health records of 10,000 patients in Qatar who were hospitalized for heart problems and have diabetes or prediabetes. Researchers will use artificial intelligence to find patterns that predict future heart attacks, strokes, or death. The goal is to create …

The SIRENA study will follow 300 children and adults who have tested positive for islet autoantibodies, which are early markers of type 1 diabetes. Over up to 10 years, researchers will track how their blood sugar, immune system, and metabolism change. The goal is to better predi…

This study looks at whether eating a breakfast with two types of carbohydrates (glucose and fructose) can increase glycogen stored in the liver. Twelve healthy male athletes will be tested after different breakfasts using MRI scans and blood samples. The goal is to learn the best…

This study tests whether a drink made from broccoli sprouts can improve how well endurance athletes perform and recover after cycling. Thirty healthy adults who exercise regularly will drink either the broccoli sprout drink or a placebo at different times before a cycling test. R…

This study aims to create a physical activity and sedentary behaviour program tailored for adults with mucopolysaccharidosis (MPS). Researchers will gather input from patients, doctors, nurses, and family members through interviews, focus groups, and workshops. The goal is to des…

This study will look at 3000 young Asians in Singapore who do not have diabetes yet. Researchers will use blood tests, glucose monitors, food diaries, and body measurements to find better ways to detect diabetes early. The goal is to create new risk tools to identify young people…

This study will look at how getting only 3 hours of sleep (instead of 8) affects blood sugar, blood vessel stiffness, and thinking skills in healthy adults aged 20-45. Researchers will also test if regular exercise can help protect against these negative effects. The goal is to b…

This study will test 70 people with IBS-related diarrhea to see how many actually have lactose intolerance. Researchers will use a PCR test and a symptom questionnaire to find links with age and gender. The goal is to better understand if lactose intolerance is a common, overlook…

This study looks at whether not getting enough sleep affects blood sugar control differently in healthy men and women. Researchers will ask 32 adults to sleep only 4 hours a night for three nights and then measure their blood sugar and hormone responses after a meal. The goal is …

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …

This study will look at 35 children with joint problems that are not caused by inflammation, such as stiffness or deformity. Researchers will use exams, lab tests, and imaging to find the true cause, which could be rare genetic conditions like mucopolysaccharidoses or osteogenesi…