Inborn carbohydrate metabolic disorder

This study tested a new way to cure vivax malaria, a type of malaria that can come back. Researchers gave a high daily dose of the drug primaquine for a short time, but only after a quick test to check for a genetic condition (G6PD deficiency) that could cause serious side effect…

This study tested a new approach to treat vivax malaria, a type that can hide in the liver and come back. Researchers used a quick test to check for a genetic condition (G6PD deficiency) that can cause dangerous side effects with the standard drug primaquine. Then, they gave a hi…

This pilot study tested whether a combination of phentermine and topiramate, two drugs used for weight loss, could help shrink uric acid kidney stones in obese people with type 2 diabetes or pre-diabetes. Nineteen participants were randomly assigned to receive the drug combo or c…

This study tested whether adding a smartphone app with short videos on mental health, diet, exercise, and insulin adjustment to standard care could improve blood sugar control and birth weight in pregnant women with diabetes. Over 600 women participated. The goal was to see if th…

This study looked at whether a seaweed supplement or a Mediterranean-style diet could help people with pre-diabetes control their blood sugar and strengthen their immune system against infections. Researchers studied 45 adults with pre-diabetes, measuring changes in blood glucose…

This completed study compared moderate exercise (like brisk walking) with the drug metformin in 226 adults with prediabetes. Participants were randomly assigned to either exercise for 30-45 minutes, 5 days a week, or take metformin twice daily for 12 weeks. Researchers measured c…

This early-phase study tested a new drug called ABX1100 in 46 people, including healthy volunteers and patients with late-onset Pompe disease. The main goal was to check safety and how the drug moves through the body. Researchers gave single or multiple doses to find the right am…

This study tested a drug called mitapivat (AG-348) in 52 adults with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The goal was to see if different doses of the drug are safe and help control the dis…

This study tested a monthly injection called nedosiran in 27 children from birth to 11 years old with primary hyperoxaluria, a rare condition that causes harmful oxalate buildup and kidney damage. The goal was to see if the drug safely lowers oxalate levels in the urine. Early re…

This early-phase study tested a new gene therapy called ACTUS-101 in 7 adults with late-onset Pompe disease. The main goal was to check safety and side effects. Participants received a single intravenous dose, and researchers monitored their health over time.

This study tested whether a program of diet, aerobic exercise, and balance training could improve nerve function and balance in people with prediabetes or early type 2 diabetes. About 61 participants were assigned to either the program or standard care. The goal was to see if the…

This study tested whether doing aerobic exercise at home with remote supervision (tele-exercise) works as well as exercising in a hospital for people with prediabetes. Forty-two adults with prediabetes walked for 30 minutes, five days a week, for three weeks. One group exercised …

This study followed 21 boys with Hunter syndrome who started taking Elaprase before age 6. Researchers tracked their height and weight for at least 5 years to see if the drug helps them grow more like other children. The study also monitored safety and compared growth data to unt…

This study followed 30 adults with type 1 diabetes who used the Smartguard system, a partially automated insulin pump that can pause insulin delivery when it predicts a low blood sugar. The goal was to see how well the system works in everyday life, focusing on time spent in the …

This study looked at two different ways to manage blood sugar in pregnant women with MODY2 diabetes, a genetic condition that affects insulin release. The goal was to see if using ultrasound to guide insulin treatment could prevent the baby from growing too large. 46 women took p…

This Phase 3 trial tested a gene therapy called DTX401 in 49 people with glycogen storage disease type Ia (GSD Ia). The goal was to see if a single infusion could reduce or eliminate the need for frequent cornstarch doses to keep blood sugar stable. Participants were randomly ass…

This study checked the long-term safety of a one-time gene therapy (DTX401) in 12 adults with glycogen storage disease type Ia, a rare condition that causes dangerously low blood sugar. Researchers monitored side effects and how well the therapy helped control blood sugar levels …

This study tested the long-term safety of a combination therapy (ATB200 and AT2221) in 119 adults with late-onset Pompe disease who had completed a prior study. Participants received the drugs for an extended period, and researchers tracked side effects, walking distance, and lun…

This study tested whether Garcinia cambogia rind powder, a dietary supplement, can improve weight, blood sugar, and cholesterol in 90 pre-diabetic obese adults aged 30-60. Participants took the powder daily for 12 weeks. The goal was to see if it helps control metabolic problems …

This completed trial tested whether an AI-powered system called X Life could help adults with prediabetes improve their blood sugar control. Over 28 days, 131 participants either used the AI system for real-time diet and exercise recommendations or received standard lifestyle adv…

This study tested whether Tenapanor, a drug approved for kidney disease, can reduce oxalate absorption from food and lower the risk of kidney stones. Eighteen healthy adults without a history of stones took the drug or a placebo, and their urine oxalate levels were compared. The …

This study tested a culturally-tailored program called HARMONY for African American women at risk for heart disease, stroke, and diabetes. Over 8 sessions plus monthly boosters, participants learned stress management, exercise, and healthy eating. The goal was to see if the progr…

This study looked at the long-term safety and effectiveness of Hunterase (idursulfase beta) in 30 people with Hunter syndrome over about one year. Participants had either completed a previous phase 3 study or had used Hunterase for at least six months. The goal was to monitor sid…

This study tested whether eating one avocado and one cup of mango daily for 8 weeks could improve blood vessel health and thinking in 82 adults with pre-diabetes. Participants were randomly assigned to either a diet including these fruits or a matched control diet. Researchers me…

This study tested whether inositol, a natural dietary supplement, can lower high testosterone levels in women with polycystic ovary syndrome (PCOS). 154 women took either a placebo or one of three doses of inositol powder for a set period. Researchers measured changes in testoste…

This study tested whether the diabetes drug dapagliflozin can reduce inflammation and improve outcomes in people with type 2 diabetes who recently had a heart attack. Researchers gave 143 patients either dapagliflozin or standard care for 6 months. They measured heart complicatio…

This study tested whether combining two safe immune therapies—abatacept injections and nasal insulin—can help preserve the pancreas's ability to make insulin in people recently diagnosed with type 1 diabetes. The goal is to make blood sugar control easier and reduce the need for …

This study looked at whether eating sorghum rice instead of white rice for one week could improve health in people with prediabetes. Twenty-six police officers with prediabetes took part. Half ate sorghum rice, and half ate white rice. The researchers measured changes in a hormon…

This pilot study tested whether whole-body electromyostimulation (WB-EMS) training can improve blood sugar control in 66 sedentary adults aged 40-65 with prediabetes. Participants were assigned to WB-EMS or control groups, and researchers measured changes in HbA1c and other healt…

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

This study tested whether babies with a rare, permanent form of diabetes caused by specific gene changes could switch from daily insulin injections to an oral pill called glibenclamide. Nineteen infants took part. The goal was to see if the pill could control their blood sugar an…

This study looked at the long-term safety and effectiveness of the drug mitapivat in 90 adults with pyruvate kinase deficiency, a rare genetic blood disorder that causes red blood cells to break down too quickly. Participants had already completed earlier studies of mitapivat and…

This study tested an experimental drug called AT-007 in 47 children aged 2 to 18 with Classic Galactosemia, a rare genetic disorder that makes it hard to break down a sugar called galactose. The goal was to see if the drug could improve behavior, daily living skills, and language…

This study tested a 3-month lifestyle program, delivered by Pasifika community health workers, to help Native Hawaiians and Pacific Islanders with conditions like diabetes, high blood pressure, and obesity. The program included healthy eating and activity tips plus support for so…

This study tested whether a new combination of two drugs (ATB200 and AT2221) is safe for adults with Pompe disease, a rare genetic disorder that causes muscle weakness. 29 participants received the drugs through an IV and by mouth. The main goal was to check for side effects and …

This phase 2 trial tested triheptanoin oil in 20 people with GLUT1 deficiency syndrome, a rare genetic condition that prevents glucose from properly fueling the brain. The goal was to see if this special oil could reduce the number of seizures and abnormal movement episodes. Part…

This study tested a drug called Aldurazyme (laronidase) in 12 Chinese people with mucopolysaccharidosis I (MPS I), a rare genetic disorder. Participants received weekly infusions for 26 weeks to see if the treatment is safe and reduces waste products in urine. The goal is to mana…

This phase 3 trial tested a new treatment for adults with late-onset Pompe disease, a rare genetic disorder that weakens muscles and breathing. Participants received either the experimental combo (cipaglucosidase alfa plus miglustat) or the current standard therapy (alglucosidase…

This phase 1 trial tested a gene therapy called RP-L301 in 4 people with pyruvate kinase deficiency, a rare inherited blood disorder that causes severe anemia and often requires frequent blood transfusions. The treatment uses the patient's own blood stem cells, which are modified…

This study tested a smart underwear device to see if it can detect lactose intolerance by measuring gas events after drinking lactose. 37 adults (some lactose tolerant, some intolerant) wore the device and consumed both lactose and a placebo (sucrose) on separate days. The goal w…

This study tested whether computer analysis of voice recordings can detect type 2 diabetes. Over 7,000 adults in the UK recorded themselves reading and answering questions online. A subset also provided blood samples to check accuracy. The goal is to see if voice biomarkers could…

This study tested a new radioactive tracer called 18F-Exendin-4, used with PET/CT scans, to see if it can better detect insulinoma—a rare tumor in the pancreas that causes dangerously low blood sugar. Twenty participants with confirmed insulinoma received the tracer and underwent…

This study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

This study tested a special version of the Diabetes Prevention Program designed specifically for men. 301 men with pre-diabetes or high risk took part to see if the program helped them lose weight and prevent type 2 diabetes. The program focused on lifestyle changes and was deliv…

This study tested whether automated messages from doctors could keep people with prediabetes engaged in a digital diabetes prevention program. Over 550 participants used the Noom app along with a fitness tracker and scale, and some received tailored text or MyChart messages based…

This study tested a new way to prevent type 2 diabetes in people with pre-diabetes. Participants wore a continuous glucose monitor (CGM) on their arm and received AI-generated educational videos on their smartphone. The goal was to see if this combination could help lower average…

This study tested a program called Babble Boot Camp for babies with classic galactosemia, a rare condition that often causes speech and language problems. The program started when babies were 2 to 24 months old and involved weekly online coaching for parents from a speech therapi…

This study tested whether a fully automated digital program could help people with prediabetes lose weight and lower their blood sugar as effectively as a program led by a human coach. About 368 adults with prediabetes and overweight took part. The goal was to see which approach …

This completed study tested whether switching from a Western diet to a plant-based diet for 5 weeks could improve insulin sensitivity in 9 adults with prediabetes. Participants received all meals and snacks, and researchers measured changes in insulin sensitivity and muscle inosi…

This study tested a program where community health workers led group sessions to help South Asian adults with pre-diabetes lose weight. Nearly 1,000 participants took part. The goal was to see if this approach could help them lose at least 5% of their body weight and reduce their…

This study tested whether a daily probiotic capsule containing two bacterial strains could reduce gastrointestinal symptoms like bloating, gas, and cramps in adults with lactose intolerance and methanogenic intestinal overgrowth. Twenty-two adults took either the probiotic or a p…

This completed study tested whether a continuous glucose monitor with predictive alerts (Dexcom G7) can reduce low blood sugar better than a standard alert monitor (Dexcom ONE+) in 11 adults with glycogen storage disease or congenital hyperinsulinism. Participants wore each devic…

This study tested whether a single dose of TRPTI (oleoylethanolamide), a dietary supplement, could improve how the body handles sugar in 19 healthy adults. Participants received either 150 mg, 300 mg, or a placebo in random order, then had their blood sugar and insulin levels mea…

This study looked at whether exercising in the morning or evening helps control blood sugar better in pregnant women with gestational diabetes or glucose intolerance. 39 women walked or stepped for 30 minutes either after breakfast or after dinner. The researchers measured blood …

This study tested a powered leg exoskeleton (Keeogo) in 50 people with various muscle disorders to see if it is safe and helps them walk better. Participants performed walking tests with and without the device. The goal was to see if the device could improve walking distance and …

This study tested a wearable robotic suit called MyoSuit that assists knee and hip movement in people with various muscle disorders. 32 participants used the device to perform walking tests, and researchers checked for safety and any immediate improvements in walking ability. The…

This study tested whether adding lactase enzyme to milk feedings helps preterm babies (born before 34 weeks) digest better and gain weight. 124 infants received either lactase-supplemented or standard feedings for two weeks. Researchers tracked feeding tolerance, weight gain, and…

This small phase 2 trial tested whether taking abscisic acid (ABA), a natural plant hormone, can improve how the body handles sugar in people with prediabetes. Five adults with elevated fasting glucose or HbA1c took ABA and had their insulin sensitivity measured using a precise c…

This study tested whether high-dose inspiratory muscle training (IMT) using a handheld device is safe and feasible for people with late-onset Pompe disease. 34 adults with stable Pompe disease did remote breathing exercises. Researchers measured changes in respiratory strength an…

This study tested whether an online, live strength training program called Vivo is feasible and acceptable for sedentary older adults with prediabetes. Twenty-eight participants took part in 45-minute classes twice a week for 12 weeks. The study measured leg strength, attendance,…

This study tested whether shivering from cold exposure can improve 24-hour blood sugar levels in people with prediabetes or type 2 diabetes. Twenty-four participants underwent two cold sessions at different shivering intensities. The goal was to see if muscle activation from shiv…

This study tested whether a dietary oil called triheptanoin can improve exercise capacity in adults with McArdle disease, a rare genetic disorder that affects how muscles use stored sugar. Twelve participants received either triheptanoin or a placebo oil for two weeks, then switc…

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study tested whether time-restricted feeding (eating only during an 8-hour window each day) could change certain blood markers linked to breast cancer risk. Twenty-nine postmenopausal women with prediabetes were randomly assigned to either the 8-hour eating schedule or a nor…

This study looked at 115 adults with prediabetes to understand why different people develop the condition. Researchers tested how each person's body responds to different foods, aiming to create personalized diet plans that prevent diabetes. The goal was to find biological marker…

This study collected information from over 15,000 people hospitalized with cardiomyopathy, a heart muscle disease. Researchers looked at how much these hospital stays cost and what the money was spent on. The goal was to understand the real-world financial impact and help manage …

This study looked at how often people with certain blood cancers or related conditions have an acquired deficiency of an enzyme called pyruvate kinase, which can cause anemia. Researchers took a single blood sample from 18 participants to measure enzyme activity and check for rel…

This study looked at how the way words sound (phonotactic probability) and how they are spelled (orthography) affect vocabulary learning in 23 children with low oral language skills (DLD). All children took part in the same 12-week program, which used real words to improve vocabu…

This study looked at how drinking beverages with different sweeteners—low-calorie sucralose, refined sugar, or natural fruit juice—affects blood sugar control and gut health in healthy adults. Over three weeks, 42 participants drank one type of sweetened drink daily. Researchers …

This study looks at people who carry one copy of a mutated AGXT gene, which is linked to a rare kidney stone disease. Some carriers develop kidney stones, while others do not. Researchers will compare their urine oxalate levels and lifestyle factors to find out what triggers symp…

This study looked at how different types of milk—A2 milk and protein-hydrolysed lactose-free A1 milk—affect gut symptoms and inflammation in 37 adults who usually feel discomfort from regular milk. Participants drank each milk type for three days while taking either a lactase cap…

This study tested whether tagatose, a low-calorie sweetener, can act as a prebiotic—meaning it selectively feeds beneficial gut bacteria and improves blood sugar control. Fifty-nine healthy adults with slightly high blood sugar or insulin resistance took either tagatose or a plac…

This pilot study tested whether taking metformin 30 or 60 minutes before a meal affects carbohydrate absorption in people with obesity and prediabetes or type 2 diabetes. One participant completed three oral glucose tolerance tests—one without metformin, one with metformin taken …

This study looked at whether exercising in the afternoon versus the morning makes a difference in blood sugar levels for people with pre-diabetes. Fifteen overweight adults aged 40-75 completed a 12-week high-intensity interval training program. The main goal was to see if aftern…

This study looked at what happens when active older adults (55+) reduce their physical activity for just 3 days. Researchers measured changes in blood sugar after meals and blood vessel function, comparing them to younger adults. The goal was to see how quickly inactivity can aff…

This registry tracked over 1,400 people with MPS I, a rare genetic disorder, to better understand how the disease progresses and how treatments like enzyme replacement therapy work over time. It did not test a new drug but collected real-world data to help doctors improve patient…

This small study looked at whether sourdough bread made with a longer fermentation time (which increases natural acids) could lower blood sugar spikes in adults with prediabetes. Five participants ate different sourdough breads and had their blood sugar measured afterward. The go…

This study aimed to find new genetic changes that might cause inherited diseases, especially in people who already have a diagnosis but whose genetic tests were not clear. Researchers studied 56 patients and their family members to look for hidden variants in parts of the DNA tha…

This study looked at how common prediabetes is in people with end-stage kidney disease who are on dialysis. Researchers screened 262 adult dialysis patients who had never been diagnosed with diabetes or prediabetes. The goal was to find out how many had prediabetes, which can inc…

This completed study looked at whether the sedative dexmedetomidine can protect blood vessel lining during rhinoplasty. 90 patients received either standard anesthesia or dexmedetomidine plus anesthesia. Researchers measured two blood markers of vessel damage to see if dexmedetom…

This small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non…

This study looked at 514 people with stable coronary artery disease to see if how their body processes fat after a meal (triglyceride tolerance) is linked to future heart attacks or death. Researchers also checked blood sugar tolerance. The goal was to find a better way to identi…

This study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…

This study looked at 500 women who had gestational diabetes during pregnancy. They took a glucose test 4 to 12 weeks after giving birth to see how many had type 2 diabetes, impaired glucose tolerance, or impaired fasting glucose. The goal was to compare women diagnosed with gesta…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study looked at whether being exposed to artificial light at night, along with not getting enough sleep, harms how the body handles blood sugar more than just lack of sleep alone. Fourteen healthy adults stayed in a lab for over a month while their sleep and light exposure w…

This study followed 7 adults with a milder form of Morquio A disease for 5 years to learn how the condition changes over time. Researchers measured walking ability and other health factors to better understand the disease and improve future treatment evaluations. The goal was to …

This study looked at 20 adults with short bowel syndrome who rely on home parenteral nutrition. Researchers compared giving the nutrition overnight versus during the day to see if timing affects blood sugar levels and sleep quality. Participants wore glucose monitors and activity…