Inborn errors of metabolism

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…

Researchers in China are testing three exercise programs for children and teens with obesity or metabolic syndrome. Participants are randomly assigned to low, moderate, or intermittent high intensity training using broadcast gymnastics and sports dance. The study measures changes…

This study tested an artificial version of the LCAT enzyme (ACP-501) in one person with familial LCAT deficiency, a rare genetic condition that leads to low 'good' cholesterol and kidney failure. The participant received several infusions of the drug over weeks, with regular bloo…

This study tests whether a cookie made from Golden Rice and red betel leaf can improve cholesterol and triglyceride levels in adults with type 2 diabetes. Over 28 days, 102 participants will eat the cookies daily, and their blood fat levels will be measured before and after. The …

This completed study tested whether eplerenone, a drug that blocks a hormone called aldosterone, improves blood flow and reduces scarring in the heart more than another drug, chlorthalidone, in 79 people with obesity and high blood pressure. Participants took one of the two drugs…

Researchers are testing Chronocort, a modified-release form of hydrocortisone, against standard immediate-release hydrocortisone in 30 healthy male volunteers. The study measures how the drug moves through the body, including how fast it reaches peak levels and how long it stays …

Researchers are testing several modified, timed-release versions of hydrocortisone, a hormone drug, in healthy male volunteers. The study has two parts: one compares how six different formulations move through the body after a single nighttime dose, and the other checks whether t…

This study tested a new oral drug called atumelnant in 38 adults with classic congenital adrenal hyperplasia, a genetic condition causing hormone imbalances. The drug works by blocking a hormone receptor to lower excess adrenal hormones. Researchers measured safety, side effects,…

This study tests whether adding ear acupressure (small pellets on specific ear points) to the standard cholesterol drug atorvastatin can lower blood fats and improve phlegm-dampness symptoms better than a sham ear treatment plus atorvastatin. Eighty adults with dyslipidemia and p…

This study tests whether giving oral zinc sulfate and ursodeoxycholic acid alongside standard light therapy can help clear jaundice faster in newborns. About 80 babies with non-hemolytic jaundice will receive one of two doses of zinc, or the liver drug UDCA, plus phototherapy. Th…

Researchers are testing a new oral drug called AZD0780 in healthy adults, some with high LDL cholesterol. The Phase 1 trial gives single and multiple rising doses to check safety, side effects, and how the body processes the drug. About 183 volunteers will take either AZD0780 or …

This phase 3 study tests a drug called PTC923 (sepiapterin) in 200 people with phenylketonuria (PKU), a genetic condition that requires a strict low-protein diet. The main goal is to see if the drug is safe over the long term and whether it allows people to eat more protein witho…

This study tests a device that delivers specific light and sound patterns to the brain, aiming to slow the progression of mild-to-moderate Alzheimer's disease. About 670 participants will use the device at home for an hour daily over a year, with half receiving a sham (inactive) …

This phase 2 study tests a combination of two nucleoside drugs, doxecitine and doxribtimine, in 47 people with thymidine kinase 2 (TK2) deficiency, a rare genetic disorder that weakens muscles. Participants already receiving nucleoside therapy continue treatment to see if the dru…

This Phase 2 trial tested whether oral cimetidine (Tagamet), a common heartburn drug, can reduce light sensitivity in people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP). These genetic conditions cause severe pain from sunlight exposure. The study en…

This study looked at the long-term safety and effectiveness of a drug called A4250 (odevixibat) in 116 children with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease. The children took the drug for up to 72 weeks. The study measured changes in bile acid …

This study tested a drug called RTA 408 (omaveloxolone) in 172 people with Friedreich's ataxia, a rare genetic disease that affects movement and coordination. The goal was to see if the drug is safe and can improve exercise ability and daily function. Participants took the drug o…

This trial tests whether taking a daily supplement of cornelian cherry fruit for six months can improve markers of heart, blood vessel, eye, and bone health in people with metabolic syndrome. Participants will receive either the cherry supplement or a placebo, and researchers wil…

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 trial tests an experimental medicine called NNC0491-6075 for people with high levels of fat in the blood. The main goal is to check whether the medicine is safe and how the body handles it. Healthy volunteers receive a single dose, while people with high blood fat receive we…

This trial tests whether eating freeze-dried strawberry powder daily for four weeks can lower chronic inflammation and improve blood vessel function and insulin sensitivity in adults with prediabetes. Participants will be randomly assigned to receive either a low dose, a high dos…

This early-stage trial is testing whether a new once-daily version of the drug trientine (TETA 4HCl) works similarly to the current twice-daily formulation. The study involves healthy adult volunteers who will receive both versions in a crossover design to compare how the drug is…

This study tested whether a drug called alirocumab, which lowers cholesterol, can reduce heart disease risk in people with HIV. The trial involved 118 adults aged 40 and older with well-controlled HIV and high heart disease risk. Participants received either alirocumab or a place…

This trial investigates whether high-intensity interval training (HIIT) can improve how the body uses insulin in obese adults with glucose intolerance. Participants will be assigned to either HIIT (short bursts of intense exercise) or moderate-intensity continuous training (MICT,…

This study tested high doses of Ambroxol, a common cough medicine, in 12 children aged 3 to 18 with Type 3 Gaucher disease, a rare genetic disorder affecting the brain and body. The goal was to see if it is safe and can improve movement problems like ataxia. The trial took place …

This pilot study tests whether two low-carbohydrate diets can improve metabolic syndrome in adolescents aged 13-18 who are obese. Participants will follow either a very-low-carb diet, a restricted ketogenic diet, or the standard American Diabetes Association diet. The goal is to …

This phase 3 trial is testing whether pegzilarginase, an enzyme replacement therapy, can lower plasma arginine levels and improve mobility in children and adults with arginase 1 deficiency, a rare genetic condition that causes high arginine levels and neurological problems. Parti…

This study tests whether a supplement made from brown algae and chromium picolinate, when added to a calorie-controlled Mediterranean diet, can reduce fat buildup in the liver. Adults with metabolic dysfunction-associated steatotic liver disease (MASLD) and metabolic syndrome wil…

This trial tests whether eating oat-based porridge daily, alongside standard prenatal calcium and vitamin D supplements, can improve calcium and vitamin D levels in pregnant women with mild to moderate hypocalcemia. Researchers will measure blood levels at weeks 8 and 33 of pregn…

This trial follows women with polycystic ovary syndrome (PCOS) who take metformin, a standard diabetes medication, for six months. Researchers track changes in insulin resistance, iron levels, erythropoietin, cholesterol, and blood counts at three and six months. The goal is to s…

This trial tests whether eating dairy products can improve how the body uses insulin in overweight and obese adults with prediabetes. Participants will be randomly assigned to eat either limited dairy (1 serving or less per day), reduced-fat dairy, or regular-fat dairy for 12 wee…

This trial asks whether cooking with refined high-oleic palm oil can improve cholesterol and blood sugar levels as effectively as olive oil. Healthy adults will be randomly assigned to use one of the two oils in their daily cooking for four months. Researchers will measure change…

This trial tests whether a single yogurt drink made from vegetable proteins rich in leucine, cysteine, and arginine can improve blood vessel function and reduce inflammation in older adults with cardiometabolic risk. Participants, aged 65 and older, will consume either the vegeta…

This study tests whether a DASH diet—a plan rich in fruits, vegetables, and low-fat dairy—can help menopausal women with metabolic syndrome lose weight and improve health markers like blood pressure, cholesterol, and blood sugar. Researchers will also check if certain gene variat…

This trial tests whether the type of physical activity—resistance, endurance, or a mix—combined with a low-calorie diet can reduce belly fat and cardiovascular risk in people with metabolic syndrome. Adults aged 50-70 with metabolic syndrome are randomly assigned to one of three …

This study is testing the long-term safety of dasiglucagon, a drug given as a continuous injection under the skin, in children with congenital hyperinsulinism (a condition causing dangerously low blood sugar). The trial includes 42 children who completed earlier studies. Research…

This trial tests whether taking polyphenol supplements with a meal can reduce how much iron the body absorbs in people with iron overload disorders like genetic hemochromatosis and dysmetabolic iron overload syndrome. Participants eat a standardized iron-rich meal with either pol…

This study tests whether adding a cinnamon-enriched cookie to standard treatment can improve cholesterol levels and liver function in adults aged 45-55 with high cholesterol. Participants eat one cookie daily alongside their usual therapy, and researchers track weight, BMI, lipid…

This trial tests whether time-restricted eating (TRE) — limiting all food intake to an 8-10 hour daily window — can improve blood sugar control and metabolic health in people with metabolic syndrome or prediabetes. Participants are randomly assigned to either standard nutritional…

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 looked at how the drug afamelanotide (Scenesse) behaves in the bodies of 28 people with erythropoietic protoporphyria (EPP), a rare condition that causes severe pain on sun exposure. Researchers measured the drug's concentration in the blood after a single implant. The…

This study looks at whether taking two approved medicines together—escitalopram for depression and atorvastatin for high cholesterol—can improve both mood and blood fat levels in adults. Participants are adults diagnosed with both a depressive episode and mild-to-moderate dyslipi…

This study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…

This study tests bempedoic acid, a cholesterol-lowering tablet, in children aged 6 to 17 with heterozygous familial hypercholesterolemia (HeFH), an inherited condition causing very high cholesterol. Researchers measure how the drug moves through the body and how well it lowers ch…

This study tests whether taking date cider vinegar daily, alone or combined with 5:2 intermittent fasting, can improve cholesterol and other metabolic measures in adults with prediabetes and mild to moderate high cholesterol or blood pressure. Participants are randomly assigned t…

This early-stage study tested an experimental oral drug called JNT-517 in healthy volunteers and people with phenylketonuria (PKU), a genetic condition that causes harmful buildup of the amino acid phenylalanine. The main goals were to check safety and how the body processes the …

This study tests whether adding a modified traditional Chinese herbal formula, Huanglian Wendan Decoction, to standard lifestyle and drug therapy can reduce oxidative stress in people with metabolic syndrome. About 180 adults will receive either standard care alone or standard ca…

This study tests a drug called SHP611, given as a spinal injection, in 36 children with late infantile metachromatic leukodystrophy (MLD), a rare and severe brain disease. The main goal is to see if the treatment helps children keep their ability to walk and move for as long as p…

This study tests whether a 3-month community program combining nutrition education, cooking classes, and exercise can improve health outcomes for people with Cardiovascular Kidney Metabolic (CKM) syndrome—a cluster of conditions including diabetes, high blood pressure, high chole…

This early-stage trial tests two experimental drugs, UI111 and UIC202006, in healthy adult volunteers. The goal is to check the drugs' safety and how the body processes them after a single dose taken with food. The study uses a crossover design, meaning each participant receives …

This trial investigates whether a digital health app called Lipodia can help lower LDL (bad) cholesterol in adults with high cholesterol. Participants either use the app alongside their usual treatment or continue with usual treatment alone. The study measures cholesterol levels …

This Phase 2b trial tests an oral drug called zagociguat in 43 adults with MELAS syndrome, a rare genetic disorder that causes fatigue, muscle weakness, and stroke-like episodes. Participants take either 15 mg, 30 mg, or a placebo daily for 12 weeks. The study measures changes in…

This study investigates whether 12 weeks of moderate aerobic exercise can improve heart health, metabolism, and menopause symptoms in postmenopausal women who have two or more chronic conditions like high blood pressure and high cholesterol. Participants will exercise three times…

This study tests whether a daily dose of Taiwanese Green Propolis, a natural bee-derived supplement, can improve blood fat levels, reduce fatigue, and enhance quality of life in people who have completed treatment for oral cavity cancer. Participants take either propolis capsules…

This study tests whether spermidine, a natural substance found in foods like soy and aged cheese, can improve heart and muscle health in elderly people with coronary artery disease. 180 participants aged 65 and older will receive either spermidine capsules or a placebo for a peri…

This study tests whether a wide-spectrum nutritional supplement can improve mitochondrial function in children with autism spectrum disorder (ASD). Mitochondria are the energy factories in cells, and some children with ASD have abnormal mitochondrial activity. The trial enrolls c…

This study explores whether combining a high-protein Mediterranean diet with resistance exercise can help people with heart disease build muscle and lower their risk of future heart problems. The trial enrolls adults who have completed cardiac rehab and may have low muscle mass w…

This trial tests a package of services called TASKPEN, which combines HIV care with screening and treatment for high blood pressure, diabetes, and tobacco use. It involves over 5,700 adults living with HIV in Lusaka, Zambia. The goal is to see if this integrated approach helps mo…

This completed pilot study tested whether transferring gut bacteria from lean donors or from people who had gastric bypass surgery could improve metabolism in 29 obese adults with prediabetes or diabetes. Participants received fecal transplants, and researchers measured changes i…

This phase 2 trial tested the immunotherapy drug pembrolizumab (Keytruda) alone or combined with idelalisib or ibrutinib in 65 patients with chronic lymphocytic leukemia (CLL) or low-grade B-cell non-Hodgkin lymphoma (NHL) that had returned or stopped responding to treatment. The…

This study tested the safety and effectiveness of inclisiran sodium, a cholesterol-lowering injection, in 65 Indian adults with high cholesterol or mixed dyslipidemia. Participants received three doses over 270 days. The goal was to see how well it lowers LDL cholesterol and if a…

This study tests the long-term safety of maralixibat, an oral medication, in children with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease that causes intense itching. Participants who completed a prior study will receive maralixibat twice daily. Resear…

This study tested a dietary supplement made from olive and myrtle extracts in 112 adults with mildly high cholesterol. Participants took either the supplement or a placebo daily for three months while following a controlled diet. The goal was to see if the supplement could help m…

This study looked at the long-term safety of a medication called Chronocort in 76 people aged 16 and older with congenital adrenal hyperplasia (CAH), a condition where the body can't make enough cortisol. Researchers monitored for signs of over- or under-treatment, adrenal crises…

This study tested the safety and effectiveness of eliglustat, an oral medication, in 57 children aged 2 to 17 with Gaucher disease types 1 and 3. Some children also received the standard enzyme therapy imiglucerase. Researchers measured how the drug moves through the body, side e…

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 Phase 3 study tested a drug called plozasiran (ARO-APOC3) in 75 adults with familial chylomicronemia syndrome, a rare genetic disorder causing extremely high blood fat levels and risk of pancreatitis. Participants received four injections of the drug or a placebo over severa…

This study tested whether bars made with polyunsaturated fatty acids could improve cholesterol and fat levels in people with metabolic syndrome. 60 adults aged 40-65 with high BMI and abnormal cholesterol took part. The goal was to see if these bars could help control dyslipidemi…

This study tested the safety of a drug called maralixibat in 27 infants under 12 months old with Alagille syndrome or progressive familial intrahepatic cholestasis (PFIC), two rare liver diseases that cause bile buildup. The drug is given as an oral solution and aims to reduce bi…

This study tested a surgical technique called a dermal roll flap to support the nostril base in 45 people who had a previous cleft lip repair. The flap uses extra skin from the lip to lift and stabilize the nostril on the cleft side. Researchers measured changes in nostril positi…

This early-stage trial tested a new gene therapy called FLT201 in 10 adults with Gaucher disease type 1. The therapy uses a harmless virus to deliver a working copy of the gene that produces a missing enzyme. The main goal was to check safety and see if the treatment can boost en…

This study tested a new technique to help women with primary ovarian insufficiency (early ovarian failure) become pregnant. Doctors removed one ovary, treated small pieces of it with drugs to wake up dormant eggs, and then transplanted the tissue back into the patient. After moni…

This early-phase study tested whether the oral antibiotic rifaximin can reduce abnormal proteins in people with monoclonal gammopathy, a condition that can lead to blood cancers. Fifty adults with different types of gammopathy took the drug to see if it lowered their immunoglobul…

This study looked at whether bread made from watermelon rind could improve heart health in 120 adults with mild to moderate heart issues. Participants were between 35 and 65 years old and had conditions like high blood pressure, unhealthy cholesterol levels, or pre-diabetes. The …

This study tested whether taking vitamin E (400 mg daily) alone or together with psyllium husk (10 g daily) for 60 days could improve blood fat levels in adults with high cholesterol and triglycerides. Sixty participants aged 40–60 were randomly assigned to one of three groups: v…

This study looked at whether eating only within a 10-hour window each day helps overweight adults aged 50 to 75 with prediabetes lose fat and improve their metabolism. 57 participants either followed the 10-hour eating plan or their usual 13-hour eating pattern, while tracking th…

This pilot study tested whether adding krill oil to standard metformin therapy improves metabolic health in women with PCOS and obesity. Fifty-four women were split into three groups: metformin alone, krill oil alone, or both together for 8 weeks. Researchers measured changes in …

This Phase 3 study tested an ointment called TMB-001 in 153 people aged 6 and older with X-linked or ARCI ichthyosis, conditions that cause dry, scaly, and cracked skin. Participants applied the ointment or a placebo daily for 12 weeks, with some continuing for maintenance. The g…

This study looked at the long-term safety and effectiveness of a drug called pegunigalsidase alfa for adults with Fabry disease, a rare genetic condition. Participants received an infusion every four weeks for up to several years. The goal was to see if the drug is safe over time…

This study tested a special drink called PKU UP in 16 children with phenylketonuria (PKU) aged 1 to 10 years. The drink is designed to replace some of the protein they need while keeping their phenylalanine levels safe. Researchers checked how well the children tolerated the drin…

This study looked at whether a special medical food called Express Plus is acceptable for children and adults with certain inherited metabolic disorders like PKU and maple syrup urine disease. Over 28 days, 28 participants tried the product and reported how well they liked it, ho…

This study tested an oral drug called AZ-3102 in 13 people with GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) or Niemann-Pick type C disease. The main goal was to check safety and how the drug moves through the body over 12 weeks. It was a randomized, double-blind, placebo-c…

This study looked at whether people with phenylketonuria (PKU) can tolerate and stick with a new protein substitute called PKU Sphere. Thirteen participants gradually increased their intake over up to 16 weeks, then continued for 4 more weeks while researchers tracked their blood…

This study tested a new drug called JNT-517 in 14 teenagers with phenylketonuria (PKU). Participants took either JNT-517 or a placebo twice daily for 28 days. The main goal was to check safety and how the drug moves through the body, while also measuring changes in blood phenylal…

This study tested a combination of two drugs, acalabrutinib and pembrolizumab, in 161 people with various blood cancers such as lymphoma, leukemia, and multiple myeloma. The main goal was to check safety and side effects, while also seeing if the tumors shrank. The approach aims …

This observational registry followed 260 patients with homozygous familial hypercholesterolemia (a severe genetic condition causing very high cholesterol) who were taking lomitapide. The goal was to monitor long-term safety, especially liver problems and gastrointestinal issues, …

This study looked at whether a 16-week strength training program can prevent or reduce late effects like muscle loss, heart disease, and diabetes in adults who had a bone marrow transplant as children. 28 survivors and a matched control group participated. The goal was to see if …

This study looked at the long-term safety of a drug called ARO-APOC3 in adults with dyslipidemia (abnormal fat levels in the blood). Participants who completed a previous 12-month study could continue receiving the drug every 3 or 6 months. The goal was to see if the drug remains…

This phase 2 trial tested a drug called orticumab in 77 adults with moderate-to-severe psoriasis who also had cardiometabolic risks (like obesity and high cholesterol). The goal was to see if orticumab could safely reduce skin plaques and inflammation linked to heart disease. Par…

This study tested whether eating a fermented pea-and-legume product for three weeks could improve gut health and reduce inflammation in people with metabolic syndrome. 56 adults with a large waist and at least one other risk factor (like high blood sugar or cholesterol) took part…

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 study looked at whether eating only during a 10-hour window each day and doing high-intensity interval training three times a week can improve health in people with metabolic syndrome. Two hundred adults took part for 16 weeks. Researchers measured changes in metabolic syndr…

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 study tested whether taking phytosterols (plant-based supplements) for 3 months can improve liver health, cholesterol, and insulin levels in people with nonalcoholic fatty liver disease (NAFLD). 27 participants took either phytosterol pills or a placebo. Researchers measured…

This study explored whether using a mobile app and a Fitbit Inspire 3 tracker can help adults with metabolic syndrome become more physically active. One hundred participants were split into two groups: one used the digital tools plus usual care, the other received usual care alon…

This study looked at 60 men with metabolic syndrome who also had erectile dysfunction and early signs of heart stiffness. Researchers compared three treatments: tadalafil (a common ED drug), an SGLT2 inhibitor (a diabetes drug), and a combination of both, given for three months. …

This study looked at whether eating different amounts of pecans every day for 28 days can improve cholesterol and other heart health markers in adults who are overweight or have high cholesterol. 108 participants were split into groups that ate pecans providing 6%, 13%, or 20% of…

This study looked at whether adding small amounts of cottonseed oil to the diet can improve cholesterol and other heart disease risk factors. 95 adults at increased risk for heart disease drank shakes and ate snacks with different amounts of cottonseed oil for 28 days. Researcher…

This study tested the drug spironolactone in 15 adults with chronic right-sided heart failure. The goal was to see if it is safe and can improve heart function and reduce stress on the heart. Participants took either the drug or a placebo to compare effects.

This study tested whether a special extract from plants (phytosterols and phytostanols) can help lower cholesterol levels in adults with high cholesterol. 42 people took either the extract or a placebo for a period of time. The main goal was to see if the extract could reduce tot…

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 different drug combinations to prevent graft-versus-host disease (GVHD) in 174 people with blood cancers receiving stem cells from an unrelated donor. GVHD is a serious side effect where donor cells attack the patient's body. The goal was to find which drug regi…

This completed Phase 4 trial tested a single pill containing three medicines (telmisartan, amlodipine, and rosuvastatin) in 252 Korean adults with both high blood pressure and high cholesterol. Participants took either the triple pill or a two-drug pill for 8 weeks. The study mea…

This study tested a low dose (10 mg) of the statin drug rosuvastatin in 242 Korean adults with high cholesterol or heart disease risk. The goal was to see how much it lowered 'bad' LDL cholesterol after 8 weeks. Results help guide cholesterol treatment in this population.

This study looked at 781 adults with moderate-to-severe plaque psoriasis and metabolic syndrome (a cluster of conditions like high blood pressure and obesity). Researchers wanted to see if adding a lifestyle intervention (diet and exercise) to the drug Secukinumab (Cosentyx) impr…

This study looked at whether a high-fat diet changes how children with mitochondrial disease burn energy. 36 children aged 5 to 21 were randomly assigned to eat either a normal or high-fat diet for a month, then switched. Researchers measured their resting energy use and body com…

This study followed 24 people with metachromatic leukodystrophy (MLD), a rare and serious brain disease, who were already receiving an experimental drug called HGT-1110. The main goal was to check for side effects and immune reactions over a long period. Researchers wanted to see…

This study followed 26 people with Anderson-Fabry disease, some taking the enzyme replacement drug Replagal® and some not, to see how their hearts changed over two years. Researchers used special MRI scans to measure heart tissue relaxation time, which may indicate early damage. …

This phase 2b trial tested plozasiran, an experimental drug, in 353 adults with mixed dyslipidemia (high triglycerides and cholesterol). Participants received either plozasiran or a placebo, and researchers measured changes in blood fat levels over 48 weeks. The goal is to see if…

This study looked at whether a 3-month supervised exercise program can improve blood sugar, body fat, and fitness in sedentary men aged 35-65 with type 2 diabetes, prediabetes, or overweight. Participants exercised at a fitness center under supervision. The goal was to see how di…

This study tested a two-step stem cell transplant for people with blood cancers like leukemia and lymphoma. First, patients received low-dose chemotherapy and radiation to prepare their bodies. Then, they got donor stem cells followed by drugs to prevent the donor cells from atta…

This study tests whether taking a daily alpha lipoic acid supplement can reduce the return of cystine kidney stones in people with cystinuria. Half of the 50 participants will take 1200 mg of the supplement daily for three years, and the other half will take a placebo. The main g…

This trial tested a new gene therapy called ST-920 for Fabry disease, a rare genetic condition. The therapy uses a harmless virus to deliver a working gene that helps the body produce an enzyme it's missing. 36 adults with Fabry disease received a single intravenous dose and were…

This Phase 3 trial tested a gene therapy called GS010 in 98 people with Leber hereditary optic neuropathy (LHON), a genetic condition that leads to rapid vision loss. Participants received injections of the therapy or a placebo into both eyes. The study measured changes in vision…

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 study looked at whether a program of physical exercise combined with a daily supplement of leucine and arginine could help obese adults with metabolic syndrome lose body fat and improve their health. About 79 participants took part. The goal was to see if this approach could…

This study tested whether a probiotic supplement (Pediococcus acidilactici) could reduce metabolic problems like high cholesterol and blood sugar caused by antipsychotic drugs. 36 adults with first-episode psychosis or schizophrenia took the probiotic or a placebo alongside their…

This study tested a digital quality improvement program to help doctors better manage LDL (bad) cholesterol in patients with heart disease. Over 1,400 adults with established cardiovascular disease participated. The program used smartphone tools to improve treatment and follow gu…

This study looked at whether omega-3 supplements from plants can improve blood vessel function in people with high blood pressure and metabolic syndrome. About 95 adults with treated hypertension and at least two signs of metabolic syndrome took part. Researchers measured artery …

This study tested whether drinking unsweetened soymilk every day can lower cholesterol in adults with high levels. Twenty-five participants drank two bottles (750 mL total) daily for 8 weeks. Researchers measured cholesterol and other health markers to see if the soymilk helped i…

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 followed 3 people with acid sphingomyelinase deficiency (ASMD) who had already completed earlier trials of olipudase alfa. The goal was to monitor safety and side effects while they continued receiving the enzyme replacement therapy every two weeks until the drug was o…

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 early-phase trial tested the safety of combining two drugs—L-NMMA and pembrolizumab (Keytruda)—in 12 adults with various advanced cancers. Pembrolizumab helps the immune system recognize cancer cells, while L-NMMA may remove a chemical barrier that blocks immune attack. The …

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 tested a drug called alemtuzumab (Campath) as a first treatment for children with hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening immune disorder. The goal was to see if it could help children survive until they could receive a stem cell transplan…

This completed Phase 4 trial tested the drug atorvastatin (Lipitor) in 100 children aged 8-18 with steroid-sensitive nephrotic syndrome and high cholesterol. The goal was to see if the drug safely lowers cholesterol to healthy levels within 3 to 6 months. The study compared atorv…

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 study tested an experimental drug called METAZYM (a lab-made enzyme) in one child with late infantile metachromatic leukodystrophy (MLD) who had already received a stem cell transplant. The goal was to see if the enzyme could improve nerve function and reduce harmful buildup…

This study looked at the long-term safety of pegunigalsidase alfa, an enzyme replacement therapy, in 97 adults with Fabry disease. Participants received the drug intravenously every two weeks for up to several years. The main goal was to track side effects and see how well the dr…

This Phase 1 trial tested WVE-006, an RNA editing drug, in 47 healthy volunteers to see if it is safe and how the body processes it. The study is the first step toward a possible treatment for Alpha-1 antitrypsin deficiency, a genetic condition that can cause lung and liver disea…

This study tested a 'digi-physical' approach for families with children or teens living with obesity. Participants either received standard in-person care or a mix of digital tools (an app for tracking health and chatting with caregivers) plus fewer in-person visits. The goal was…

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 looked at whether eating fermented plant-based foods (like certain vegetables and grains) can improve health in people with metabolic syndrome—a condition that raises risk for heart disease and diabetes. About 89 adults with signs of metabolic syndrome ate either ferme…

This study tested whether eating tuna-based nuggets for three months could improve health in 120 people with heart disease and related conditions like obesity and diabetes. The nuggets were given as a source of selenium. Results showed improvements in some markers of inflammation…

This study tested the drug allopurinol in 8 children and adults with adenylosuccinate lyase deficiency (ADSL), a rare genetic disorder that can cause autism, seizures, and developmental delays. Researchers measured changes in thinking, daily skills, and seizure control over 12 mo…

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 followed 62 people with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes vision loss, for up to 5 years after they received a single gene therapy treatment called GS010. The goal was to see if the treatment remained safe and if any vis…

This phase 3 trial tested a single injection of GS010 gene therapy in 39 people with Leber Hereditary Optic Neuropathy (LHON) who had vision loss for 6 months or less. The treatment aims to improve vision by delivering a working copy of the ND4 gene to the eye. Results measured c…

This study tested a one-time gene therapy injection, GS010, in 37 adults with Leber Hereditary Optic Neuropathy (LHON), a genetic condition that causes rapid vision loss. Participants had vision loss for 6 to 12 months before treatment. The goal was to see if the therapy could im…

This study tested a gene therapy for children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. Five children aged 6 months to 5 years received injections of a harmless virus carrying a working copy of the ARSA gene directly into their brains. …

This pilot study tested two approaches to improve metabolic health in Black adults with stage 1 obesity and conditions like high blood pressure or prediabetes. Participants received either weight-focused or weight-neutral health coaching for 7 weeks. The goal was to see if a larg…

This phase 3 trial tested a new version of the drug agalsidase beta (AGA BETA BS) in 20 people with Fabry disease who were already stable on the standard drug Fabrazyme. Participants switched to the new drug for 54 weeks to see if it worked just as well. The main goal was to keep…

This study tested whether a stem cell transplant (using the patient's own cells) works better than standard chemotherapy for people with a high-risk form of Waldenström macroglobulinemia, a rare blood cancer. 70 patients in China took part. The goal was to see if the transplant c…

This study tested a treatment plan using thalidomide, cyclophosphamide, and dexamethasone, followed by long-term thalidomide and prednisone, in 44 adults newly diagnosed with Waldenström macroglobulinemia, a rare blood cancer. The goal was to see how well the oral regimen control…

This study tested two different drug combinations in 35 people newly diagnosed with Waldenström macroglobulinemia, a rare blood cancer. The goal was to see which combination better controls the disease and improves survival without progression. Participants received either rituxi…

This study looked at 192 women with PCOS to see which treatment works best for improving insulin resistance and other symptoms. Participants were randomly assigned to take metformin, inositol, follow a calorie-restricted diet, or combine all three for 12 weeks. The goal was to fi…

This study tested a drug called pegcetacoplan in 124 adults and teens with two rare kidney diseases (C3G and IC-MPGN). The goal was to see if the drug could reduce protein in the urine, a sign of kidney damage. Participants received either the drug or a placebo twice a week for 2…

This study looked at whether adding elastic band resistance training to waltz dancing could help improve cholesterol levels in women aged 45 to 65 with dyslipidemia (abnormal blood fats). Sixty women participated in a 12-week program of supervised exercise classes three times a w…

This study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…

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 a drug called inclisiran in teenagers aged 12 to 18 who have a rare inherited condition that causes extremely high cholesterol. The goal was to see if the drug safely lowers their LDL (bad) cholesterol. Participants received either inclisiran or a placebo for on…

This study tested a drug called inclisiran in teenagers aged 12 to 18 who have a genetic condition that causes very high cholesterol. The goal was to see if the drug is safe and can lower bad cholesterol. Participants received either inclisiran or a placebo for one year, then eve…

This study tested a drug called Cipros 20 in 406 adults with dyslipidemia (abnormal levels of fats in the blood) who also had high or very high heart disease risk. The goal was to see if it lowers triglycerides and LDL cholesterol more effectively than current options. Participan…

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 a special fiber supplement, combined with a healthy Mediterranean diet and lifestyle changes, could improve gut bacteria and metabolic health in children with obesity. 36 children aged 8-14 took part for 8 months. The goal was to see if this approach cou…

This study tested whether a Mediterranean diet that removes red and processed meat can lower LDL cholesterol and other heart disease risk factors. 157 adults with high cholesterol were assigned to either the special diet or standard heart-health advice for 8 weeks. Researchers me…

This study tested whether a structured, intensive lifestyle program could help overweight or obese people with metabolic syndrome achieve remission. 68 participants followed a program aiming for 15% weight loss. The goal was to see if this approach could reduce the number of meta…

This pilot study tested whether adding plant sterols (phytosterols) and/or krill oil to a heart-healthy Brazilian diet can lower cholesterol in people with familial hypercholesterolemia (FH), an inherited condition causing very high cholesterol. Fifty-eight adults with FH were ra…

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 drinking hydrogen-rich water every day for 12 weeks can improve body composition and metabolic health in adults with metabolic syndrome. 40 adults participated, and researchers measured changes in waist size, body fat, blood sugar, and cholesterol. Th…

This study tested whether a home exercise program using electrical stimulation to move the legs, combined with a personalized diet, could improve body composition and metabolism in adults with spinal cord injury. Twenty-six participants were assigned to either exercise plus diet …

This study tested whether a daily combination of commercially available food supplements could help overweight adults over 45 feel fuller and improve their cholesterol and blood sugar levels. Eighty participants were split into two groups: one took the supplement mix for 12 weeks…

This study looked at the long-term safety of a drug called maralixibat in 52 people with cholestatic liver disease, including Alagille Syndrome and other rare conditions. Participants had already taken maralixibat in an earlier study. Researchers tracked side effects and how well…

This study tested whether providing medically tailored meals, with or without weekly group support sessions, helps Black adults with high blood pressure, type 2 diabetes, obesity, or metabolic syndrome improve their health. 75 participants received either meals alone, meals plus …

This phase 2b trial tested an experimental drug called ARO-ANG3 in 204 adults with mixed dyslipidemia, a condition with high triglycerides and cholesterol. Participants received injections of the drug or a placebo over several months. The goal was to see if the drug safely lowers…

This study tested a drug called odevixibat (A4250) in 62 children with progressive familial intrahepatic cholestasis (PFIC) types 1 and 2, a rare liver disease that causes severe itching and bile buildup. The drug works by blocking the reabsorption of bile acids in the gut. The g…

This study tested a new microtablet supplement called PKU EASY Microtabs Plus in 10 people with PKU aged 3 and older. The supplement is a slow-release protein substitute designed to help manage PKU. Over one week, researchers checked how well participants tolerated it (stomach is…

This study tested a special powdered food called TYR Sphere in 14 people with tyrosinemia or alkaptonuria. The goal was to see if patients would stick with it, tolerate it well, and keep their metabolic levels in check. Participants used the product for 4 weeks, and researchers t…

This study tested the drug lenalidomide in 17 people with Waldenstrom macroglobulinemia, a rare blood cancer, that had returned or stopped responding to prior treatments. The main goal was to find the safest dose by monitoring side effects. Researchers also looked at how many pat…

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 whether eating only during a set window each day (time-restricted eating) combined with supervised exercise can reduce fat in the liver and improve heart health in adults with obesity. 187 people took part. The goal was to see if the combination works better …

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 a new daily medication called AZD0780 in 428 adults with dyslipidemia (abnormal cholesterol levels). Participants took one of several doses of AZD0780 or a placebo for 12 weeks. The main goal was to see how much the drug lowered LDL (bad) cholesterol compared to…

This Phase 2 study tested a drug called fazirsiran in 40 adults with Alpha-1 antitrypsin deficiency, a genetic condition that can cause liver disease. The drug is designed to lower levels of a harmful protein (Z-AAT) in the blood. Researchers measured safety and how much the prot…

This Phase 3 trial tested a daily injection called elamipretide in 102 adults with primary mitochondrial myopathy, a genetic condition that causes muscle weakness and fatigue. Participants received either the drug or a placebo for 48 weeks. The main goal was to see if the drug co…

This study tested whether giving Fabrazyme, a lifelong enzyme replacement therapy for Fabry disease, at a faster infusion rate is safe and tolerable. Eight patients who had been on Fabrazyme without recent reactions participated. The goal was to see if shortening infusion time co…

This pilot study tested whether metformin, a common diabetes drug, can reduce blood vessel damage in the brain of people living with HIV who also have metabolic syndrome (a cluster of conditions like high blood pressure and cholesterol). The study enrolled 30 adults in South Afri…

This Phase 3 trial tested a daily pill combining two drugs, obicetrapib and ezetimibe, in 407 people with inherited high cholesterol or heart disease. Participants took the combination or a placebo on top of their usual cholesterol meds. The main goal was to see if the combo lowe…

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 whether fasting for at least 14 hours each night could help overweight people with early blood cancer conditions (MGUS, smoldering myeloma) lose weight and possibly lower their cancer risk. Twenty-three participants were randomly assigned to either the fasting p…

This study tested whether taking moringa leaf powder capsules for 8 weeks could improve metabolic syndrome in Mexican adults. 36 participants were randomly assigned to receive either moringa or a placebo. Researchers measured changes in weight, blood pressure, waist size, and blo…

This study tested a new drug called obicetrapib in over 2,500 people with high cholesterol that wasn't well controlled by their current treatments. Participants took either a 10 mg obicetrapib pill or a placebo daily for about 6 months. The main goal was to see if obicetrapib cou…

This study tested the enzyme replacement drug imiglucerase (Cerezyme) in 12 Chinese patients with Gaucher disease type 3, a rare genetic disorder that affects the brain and body. Participants received the highest approved dose (60 units per kilogram) every two weeks for one year.…

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 study looked at whether taking fish oil and doing high-intensity interval training (HIIT) could lower inflammation in people who are overweight or obese. Researchers measured changes in blood markers of inflammation and metabolism over 10 weeks. The goal was to see if the co…

This study looked at whether eating canola oil every day for 12 weeks can improve cholesterol, blood vessel function, and other risk factors in people with metabolic syndrome. Eighty adults with the condition were randomly assigned to consume either canola oil or a typical Wester…

This study tested a new liquid version of the diabetes drug glibenclamide in 10 children with neonatal diabetes. The goal was to see if the liquid form is easier to take and as safe as the standard pills. Children first took the pill form for one month, then switched to the liqui…

This study tested a 12-week program combining exercise (stretching, resistance, and aerobic) with personalized nutrition and high-protein drinks in 168 older adults with sarcopenia and metabolic syndrome. The goal was to improve muscle strength, walking speed, and overall physica…

This study tested a 12-week program combining exercise (stretching, resistance, and aerobic) with personalized nutrition (including high-protein drinks) in 80 older adults aged 65-90 who have sarcopenia (muscle loss) and metabolic syndrome. The goal was to see if the program impr…

This phase 2 trial tested three drugs—Xenbilox, Tahor, and resveratrol—in 12 adults with SPG5, a rare genetic condition causing progressive leg weakness. The goal was to lower levels of a toxic cholesterol byproduct called 27-hydroxycholesterol. Each drug was taken for 2 months, …

Researchers at ETH Zurich are testing whether analyzing exhaled breath can diagnose lactose intolerance. The study includes 112 adults aged 18 to 65 in the Zurich area who consume a lactose or glucose solution. By measuring specific gases in the breath and comparing them to urine…

Researchers are testing a device called Glyconics-DS that shines near-infrared light on a fingernail to measure glycated keratin, a marker linked to blood sugar. The trial enrolls about 486 adults who do not know their diabetes status and compares the scan result with a standard …

Researchers want to know how many people with neuropathy of unknown cause carry a mutation in the TTR gene, which leads to a rare and potentially fatal inherited disease called familial amyloid neuropathy. The study enrolls up to 400 adults under 90 who have neuropathy confirmed …

This study uses a machine-learning tool to scan electronic health records and flag patients likely to have familial hypercholesterolemia (FH), a genetic condition causing very high cholesterol. Researchers then test a simple referral system that automatically schedules a visit wi…

This trial explores whether a standardized breakfast and a continuous glucose monitor can replace the traditional glucose drink test for diagnosing diabetes and prediabetes in people with Dunnigan's lipodystrophy, a rare genetic condition that causes severe insulin resistance. Th…

This completed Phase 3 study tested whether a radioactive tracer called [18F]Florbetaben, used in PET scans, can accurately diagnose cardiac AL amyloidosis—a condition where abnormal proteins build up in the heart. 244 adults with suspected cardiac amyloidosis received a single P…

This completed early-phase study tested a new radioactive tracer called 18F-BL40 for PET/CT scans in 10 adults with certain blood cancers (like lymphoma and leukemia). The goal was to see if it safely and accurately detects tumors by targeting a receptor common in many cancers. R…

This study tested a new genetic screening approach to find cases of a rare inherited nerve disease called TTR-FAP in 130 patients with chronic neuropathy of unknown cause. The goal was to see how many of these patients actually have TTR-FAP, which is often missed due to varied sy…

This study tested whether a special MRI scan called T1 mapping can detect kidney damage in people with Fabry disease, a rare genetic disorder. Researchers compared MRI results from 70 adults with and without Fabry disease. The goal was to see if this non-invasive scan could help …

This study tested 776 people with chronic pain of unknown cause to see if they had Fabry disease, a rare inherited disorder that can cause pain, kidney, heart, and nerve problems. Researchers used enzyme tests in men and genetic tests in women to find cases. The goal was to see h…

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 offering genetic screening to younger heart attack patients (under 60) can uncover hidden cases of Familial Hypercholesterolemia (FH), an inherited condition causing very high cholesterol. Researchers recruited 140 patients admitted with a heart attack a…

This study tested whether a powerful genetic test called exome sequencing can find the cause of severe epilepsy in children when standard tests fail. Researchers studied 15 children with epileptic encephalopathy of unknown genetic origin. The goal was to see if this test could im…

This study compared different ways to detect early nerve damage in people with hereditary TTR amyloidosis, a condition that can cause progressive nerve problems. Researchers used blood tests, skin imaging, and standard nerve exams in 47 participants. The goal was to see which too…

This study tested a new blood test called LLIFT to see if it can accurately diagnose fatty liver disease and its severe form, NASH, without needing a liver biopsy. Researchers enrolled 158 people at high risk for metabolic syndrome. The LLIFT test combines patient information lik…

This study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…

This study tested whether ultrasound of the nerves can help diagnose CANVAS, a rare genetic disorder that causes balance problems, nerve damage, and dizziness. Researchers measured nerve size in 35 people with confirmed CANVAS and compared them to healthy individuals. The goal wa…

This pilot trial tests whether a multi-part program given to emergency department patients with metabolic syndrome can encourage more walking and healthier habits. Participants receive a Fitbit, watch a short educational video, get a written exercise prescription, receive text re…

This trial tests whether giving azithromycin—a common antibiotic—twice a year to young children in Niger can reduce deaths. It compares giving the drug to all children aged 1-59 months versus only to infants 1-11 months, who are at highest risk. The study also checks how these ap…

This study tests two approaches to prevent obesity and type 2 diabetes in girls aged 7-10 who are at higher risk. One group receives a nutrition education program with newsletters and family events; the other takes part in after-school dance classes five days a week. Both program…

This study tested whether quercetin, a natural substance found in some foods, could help prevent a type of mouth cancer in people with Fanconi anemia, a rare genetic condition that raises cancer risk. 48 participants took quercetin to see if it reduced certain cell changes linked…

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 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 whether adding reflective materials like aluminum foil or white cloth around babies during light therapy for jaundice helps lower bilirubin faster. 81 newborns with mild jaundice were randomly assigned to standard therapy, therapy with white cloth reflectors, or…

Boys with hemophilia often miss out on games and activities because of concerns about bleeding and joint damage. Researchers developed a 12-week muscle-strengthening exercise programme with input from children, parents, and physiotherapists. The DOLPHIN-II trial compares this pro…

This study tests whether custom-made 3D-printed masks fit children better than standard commercial masks for non-invasive ventilation (NIV). Fifteen children aged 8-12 who already use NIV but have poor adherence will try a custom mask made from a 3D facial scan. Researchers will …

Researchers are testing whether nicotinamide riboside, a form of vitamin B3 sold as a supplement, can reduce immune system activation in people with mild to moderate psoriasis. The trial enrolls adults aged 18 to 80 who are not on biologic therapy. Participants take either the su…

This study looks at whether watching an animated film or reading a storybook can lower fear and anxiety in children aged 7 to 12 who have just been diagnosed with type 1 diabetes. About 64 children will take part, and their anxiety levels will be measured using special child-frie…

This completed study tested hyaluronic acid fillers injected into the penis to increase width and girth in 20 healthy men aged 21 to 65. The main goal was to see if size increased after one year using 3D imaging. The treatment is a temporary cosmetic procedure, not a cure for any…

This trial tests whether NOBO, a deodorant spray made from a yeast fermentation product (a postbiotic), can reduce underarm odor in healthy adults aged 18 to 70. Each participant applies NOBO to one armpit and a placebo to the other, then rates the odor themselves. The goal is to…

This study explores whether an AI-powered chatbot can deliver personalized sleep coaching to Black/African American adults aged 18-25 who have poor sleep and at least one cardiometabolic risk factor. The chatbot uses principles of cognitive-behavioral therapy for insomnia (CBT-I)…

This phase 2a trial tests whether an experimental oral drug called PORT-77 can lower levels of protoporphyrin IX (PPIX) in the blood of adults with erythropoietic protoporphyria (EPP). People with EPP experience severe pain and skin reactions after even brief sun exposure. The st…

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 study tested whether taking 1,000 mg of glycine daily for six months could improve memory and thinking in older adults. Fifty-nine participants took the supplement, and researchers measured changes in a brain health marker and cognitive test scores. The goal was to see if th…

This study tested a drug called MT-7117 in 165 adults and adolescents (ages 12-75) with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), conditions that cause severe pain from sunlight exposure. The goal was to see if the drug could delay the first symptoms o…

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 compared two therapies—myofeedback and neuromuscular electrical stimulation—to see which better improves arm and hand function in children aged 6 to 14 who have one-sided weakness (hemiplegia) after brain tumor surgery. Forty-five children participated, and researchers…

This study tested two strengths of a topical isotretinoin ointment (TMB-001) in 34 people aged 9 and older with congenital ichthyosis, a rare genetic skin condition causing severe scaling. The main goal was to see if the ointment could reduce scaling by at least 50% compared to a…

This study looked at whether taking Korean ginseng extract daily for eight weeks could reduce fatigue and improve exercise performance in healthy adults aged 20 to 50. Sixty participants were randomly assigned to receive either the ginseng extract or a placebo. The researchers me…

This study tested whether a new deodorant spray called NOBO, made from a yeast-based postbiotic, can reduce underarm odor. Five healthy adults who felt they had body odor used NOBO on one armpit and a placebo spray on the other. They rated their own odor and provided samples for …

This study looked at whether aerobic exercise and virtual reality games could improve functional capacity, activity, and participation in children aged 6-10 living in care facilities. Sixty-three children were split into groups: one did aerobic exercise, one played VR games, and …

This study tested whether taking a daily arginine supplement (Bioarginine) for 6 weeks can improve breathing and daily activities in people with COPD. 153 participants were randomly assigned to receive the supplement or a placebo on top of their usual inhaled medications. The goa…

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 whether a home exercise program, supported by a smartwatch and weekly coaching, is practical and acceptable for people with mitochondrial disease. Ten participants followed an 8-week program with remote monitoring. The goal was to see if people would stick with …

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 the sleep medication suvorexant (Belsomra) can reduce insomnia severity and improve metabolic health in midlife women who have both insomnia and signs of metabolic syndrome. Thirty-one healthy women aged 40-65 who were perimenopausal or postmenopausal to…

This study tested whether a low-immunogenic oat variety called Saul is well-tolerated by adults with celiac disease who are in remission. Forty participants ate 50 grams of gluten-free Saul oat flakes daily for 14 days. Researchers tracked symptoms and blood markers to see if 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 a special turmeric supplement (MERIVA®) could improve memory and thinking in older adults with metabolic syndrome. 85 people took either the supplement or a placebo for 6 months. Researchers measured changes in cognitive tests to see if turmeric helped p…

This small study tested whether gummy candies made with maqui berry could help overweight adults control their blood sugar after eating a carb-rich meal. Ten participants ate white bread alone, or with maqui berry gummies, and had their blood sugar and antioxidant levels measured…

This study tested a simple, home-based breathing technique called the Active Cycle of Breathing Technique (ACBT) with augmented reality support in 50 adults with Alpha-1 antitrypsin deficiency. Participants did the breathing exercises twice daily and walked at least 5000 steps pe…

This study tested whether a phone-based cognitive behavioral therapy program could help people with severe or morbid obesity reduce their food addiction. 154 participants received either 12 therapy sessions over 18 weeks or their usual care. The goal was to see if the therapy cou…

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…

Researchers are studying how traditional and non-traditional heart risk factors relate to cholesterol levels in hospitalized Mexican adults. The study focuses on HDL cholesterol, often called good cholesterol, and how it behaves in people who smoke or have certain dietary habits.…

This study looked at whether high-intensity interval training (HIIT) or weight-loss surgery can reduce the risk of nerve damage (peripheral neuropathy) in people with obesity. About 140 adults who were candidates for bariatric surgery took part. Researchers measured nerve health …

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 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 …

Researchers are studying whether adults with Dunnigan lipodystrophy, a rare genetic condition that changes how the body stores fat, have higher levels of inflammation than people without it. The trial enrolls 64 non-diabetic adults on Reunion Island, including those with the cond…

This study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …

This study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…

This study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic condition that affects cholesterol production and causes birth defects and intellectual disabilities. Researchers enrolled 130 patients and their mothers to learn more about the disease's progression, genetic …

This study looked at people with three rare genetic conditions—xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD)—that affect the body's ability to repair DNA. Researchers examined 709 participants to understand how these defects relate to cancer ri…

This study looks at how different meals before exercise affect amino acid levels in adults with phenylketonuria (PKU). Ten participants will try water, carbohydrates, or protein before doing aerobic and resistance exercises. Researchers will measure changes in blood amino acids t…

This study looked at how people with and without non-alcoholic fatty liver disease (NAFLD) process food. Researchers monitored 53 adults over two days, measuring metabolism, blood, and urine after meals. The goal was to find differences that might explain why fat builds up in the…

Researchers at Nantes University Hospital are studying how the immune system behaves in adults with Gaucher disease. The study collects one blood sample from each participant to measure macrophage activity and immune cell profiles. The goal is to understand how different parts of…

This study tested whether weekly community-led group discussions about health topics could change how people feel about COVID-19 testing and vaccines. 49 adults from housing authority agencies took part in Zoom meetings and completed surveys over 18 weeks. The goal was to see if …

This early-stage trial in 28 healthy adults tests whether eating a meal changes how the body absorbs a single tablet containing three diabetes medicines (gemigliptin, dapagliflozin, and metformin). Participants take the pill once while fasting and once after a meal, and researche…

This completed study followed 945 people, mostly children and young adults with severe eczema or related allergic conditions, along with their relatives. Researchers observed how these diseases progress over up to a year, using tests like allergy skin pricks, blood draws, and lun…

This study checks if a new version of a cholesterol-lowering drug (AJU-C715) works the same as the original (C715R) in 60 healthy adults aged 19-59. Participants take a single dose of each drug in random order and have blood tests to compare drug levels. The goal is to see if the…

Researchers are following 110 people aged 1 to 65 who have homocystinuria caused by a missing or faulty CBS enzyme. The study observes how the condition changes over time under standard care, without testing any new treatment. Participants give blood samples, complete quality-of-…

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 looked at whether teaching mothers about their family health history can help them encourage healthier eating and exercise in their families. About 310 adults with at least one child took part. Researchers gave them a Family Health Package with personalized risk info a…

This completed study used PET and MRI scans to compare brain dopamine function in people with Gaucher disease or Parkinson disease, their family members, and healthy volunteers. Researchers aimed to see if certain genetic mutations cause early changes in dopamine storage. The stu…

This study looked at how fat-carrying particles called lipoproteins work in healthy people and those with high cholesterol or other lipid disorders. Researchers injected tiny, safe amounts of radioactive lipoproteins to track them in the body. The goal was to better understand ho…

This study looks at whether a motivational interview—a 20-40 minute phone or video chat—can help people with familial hypercholesterolemia (FH) get their cholesterol checked and talk to family about screening. About 300 people with suspected or confirmed FH will be randomly assig…

This study compares two diets in people with overweight and early signs of blood sugar problems: a low-carbohydrate diet and a Mediterranean diet, both designed to produce similar weight loss. Each participant follows both diets for four weeks, in random order, with a break in be…

Researchers are investigating whether eating ultra-processed foods is linked to obesity and metabolic syndrome in children and teens. The study will compare three groups: children with obesity, children with obesity plus metabolic syndrome, and healthy controls. Participants will…

This study uses advanced PET brain scans to measure dopamine, acetylcholine, and tau protein levels in people with GBA gene mutations, both with and without Parkinson's disease. Researchers also analyze typing patterns on a computer or touchscreen to detect subtle motor changes. …

This study is creating a large network of hospitals across Italy to improve the diagnosis and understanding of rare cerebrovascular diseases (rCVDs), such as CADASIL, Fabry disease, and Moyamoya. Researchers will collect medical information and blood samples from 500 patients to …

This study tracks 180 orthopedic patients in Cyprus to see if a single doctor visit changes how much they trust AI health information. Patients fill out surveys before and after their appointment, and doctors also report on the accuracy of any AI advice patients brought up. The g…

This study looks at people with a rare inherited condition that causes extremely high cholesterol and early heart disease. Researchers used special tests to measure artery hardening before it becomes life-threatening. The goal was to gather information to help develop future trea…

This study aimed to find new gene changes that cause rare lipid disorders. Researchers used advanced genetic testing to look at many genes at once in 140 people and their relatives. The goal was to discover causes that older methods missed.

This study looked at 300 people with Waldenström's macroglobulinemia or a related condition to see if blood or urine tests could detect key genetic mutations as accurately as bone marrow biopsies. The goal is to find a less invasive way to monitor the disease over time. Researche…

This pilot study tests whether eating a low-carbohydrate, high-unsaturated-fat diet for three days can alter the liver's fat composition and the activity of genes linked to fat metabolism, inflammation, and scarring in people with pre-diabetes. Participants will follow either thi…

This large observational study looks at health records from general practitioners in Naples to estimate how common insulin resistance is in the local population. It also examines whether people with insulin resistance have a higher rate of cardiovascular disease compared to those…

This study follows military instructors who are regularly exposed to low-level blasts during their training courses. Researchers will collect blood samples to measure FDA-approved brain injury biomarkers and use smart watches and sensors to track activity, sleep, and other health…

This study is building an international registry of people with GNE myopathy, an ultra-rare muscle disease that causes progressive weakness and often leads to wheelchair use. Participants will complete online questionnaires about their symptoms, medical history, quality of life, …

This study looks at whether adults aged 70 and older with multiple chronic conditions (but no heart disease) can safely stop taking statins. Researchers are comparing those who continue statins to those who stop, tracking deaths and major heart events over 2-4 years. The goal is …

This study looks at how false or misleading health information found online affects the way people with chronic illnesses like diabetes and high blood pressure take their medications and make treatment decisions. Researchers will survey 300 adults who use social media at least on…

This completed pilot study in Yomitan Village, Okinawa tested three simple, low-cost approaches to reduce stress and encourage healthy habits in 45 adults with overweight or pre-metabolic syndrome. Participants were randomly assigned to receive health leaflets, wear functional cl…

This study looks at how children over age 3 with pyridoxine-dependent epilepsy, a rare genetic condition, develop cognitively over time. Researchers will use a standardized questionnaire called Vineland II to measure adaptive behaviors like communication and daily living skills. …

This trial investigates how replacing animal proteins with plant proteins in the diet influences metabolism. Adults with early signs of metabolic syndrome (like high triglycerides or slightly elevated blood pressure) will follow a controlled diet for four weeks, either predominan…

This study tested a school program called SocLaLola that uses a comic book to teach children aged 8-11 about pain. The goal was to see if it improves kids' understanding of pain and reduces their fear of moving. Eighty-two students from two primary schools took part. The program …

This study looks for genetic changes linked to progressive familial intrahepatic cholestasis (PFIC) in adults with unexplained bile flow problems. Researchers will collect health information and blood samples from 150 participants across Spain during a single visit. The goal is t…

This study tests whether a teaching approach called ARCS (Attention, Relevance, Confidence, Satisfaction) can improve nursing students' ability to perform cardiovascular physical exams. One hundred second-year nursing students will receive either standard training or standard tra…

This study investigates how specific fat molecules called diacylglycerols and sphingolipids inside muscle cells influence insulin resistance. Researchers will measure these lipids in different parts of muscle cells before and after weight loss or exercise in people with obesity, …

This study will assess the diet, heart health, body composition, mental wellbeing, and physical performance of 600 U.S. Army soldiers. Researchers aim to gather detailed data on nutrition and health, similar to a national survey but tailored for the military. The goal is to bette…

This early-stage trial tests a new drug called AJU-C716 against a reference drug (C716R) in 41 healthy adults aged 19 to 55. The goal is to see how safe the drug is and how the body processes it. This study does not test if the drug works for high cholesterol—it only looks at saf…

This study investigates whether people with late-onset Pompe disease have a higher risk of severe blood vessel problems in the brain and aorta. Researchers will collect medical and genetic data from adults with Pompe disease and from those who have had a brain aneurysm or bleedin…

This study creates a registry for people with familial hypercholesterolemia (FH) in Greece, a genetic condition that causes very high cholesterol and early heart disease. Researchers will screen adults aged 18 to 80 to learn how common FH is and describe the health of those affec…

This study looked at 96 people with a rare condition called acrodermatitis enteropathica, which causes severe zinc deficiency. Researchers analyzed blood samples to find genetic mutations in 56 genes related to zinc handling. The goal was to better understand the genetic causes o…

This study looks at how eating organically or conventionally grown fruits and vegetables affects the bacteria in your gut and your overall health. Researchers will compare two groups: healthy adults and those with metabolic syndrome (a condition linked to obesity and high blood s…

This study looks at whether a specific gene variant (ApoE4) is more common in people with certain brain MRI patterns that suggest cerebral amyloid angiopathy (CAA), a condition where proteins build up in brain blood vessels. Researchers will analyze genetic samples from 100 patie…

This study investigates people with oculocutaneous albinism who have no known genetic cause for their condition. Researchers use advanced DNA analysis techniques to search for new or hidden mutations. The goal is to improve diagnosis and understanding of this inherited condition.

This study explored how Ramadan intermittent fasting changes gut bacteria and intestinal barrier function in healthy adults. Researchers followed 79 participants from Italy and Lebanon before, during, and after the fasting month. They collected blood and stool samples to measure …

This study looked at health records from over 5,000 adults to see if having an H. pylori stomach infection is linked to metabolic syndrome—a cluster of conditions like high blood sugar, high blood pressure, and excess belly fat. Researchers compared people with and without the in…

This study tests whether pharmacists using a generative AI tool (ChatGPT) can provide more accurate and complete medication counseling compared to standard practice. The trial involves 136 adults with chronic conditions like diabetes, high blood pressure, or asthma who are pickin…

This study looked at whether people with hereditary hemochromatosis (a condition causing too much iron in the body) have higher rates of gum disease. Researchers examined 87 adults aged 35 to 64 with the C282Y gene mutation. They measured gum pocket depth and clinical attachment …

This study followed 100 adults with genetic hemochromatosis (a condition causing too much iron in the body) for 3 years to see how their bone health changed. Researchers measured bone density and checked for fractures and joint problems. The goal was to understand if iron overloa…

This study followed 53 adults with overweight or obesity who were already receiving standard lifestyle-based weight loss care at a clinic. Researchers measured changes in body weight, fat mass, blood sugar, cholesterol, and other health markers before and after weight loss. The g…

This completed study in Russia checked how many people with carpal tunnel syndrome also have a rare inherited nerve condition called hereditary transthyretin amyloidosis. Researchers reviewed medical records of 721 patients and will test some for the genetic mutation. The goal is…

This study looked at 315 HIV-positive adults to build models that predict fatty liver disease and liver scarring. Researchers used ultrasound and FibroScan tests to track liver changes over time. The goal was to better understand and identify liver problems early in people living…

This study looked at 88 women newly diagnosed with primary hypothyroidism (underactive thyroid) to see if taking levothyroxine to normalize thyroid hormones also improves metabolic health. Researchers measured special proteins called adipokines, which are linked to fat tissue and…

This study looked at how blood vessel function relates to heart blockage in people with a genetic heart condition called hypertrophic cardiomyopathy. Researchers measured blood flow and vessel flexibility in 40 adults. The goal was to understand the connection, not to test a trea…

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 followed 12 adults with PKU to see how their nutrition changed before and during treatment with pegvaliase (Palynziq). Researchers measured protein intake, body composition, bone density, and vitamin levels over 15 months. The goal was to understand if the drug affects…

This study looked for a new gene that causes hereditary lipodystrophy, a rare disease where people lose body fat and often develop diabetes and heart problems. Researchers studied DNA and cells from 2 patients who had the disease but no known genetic cause. The goal was to find t…

This study looked at MRI scans from 72 people with two common types of small vessel disease in the brain: hypertensive arteriopathy and cerebral amyloid angiopathy. Researchers focused on tiny fluid-filled spaces in a part of the brain called the dentate nucleus. The goal was to …

This study tested 137 people with chronic pain of unknown cause to see if they had Fabry disease, a rare genetic disorder. Researchers used blood tests to check for the condition. The goal was to find out how common Fabry disease is in this group and help diagnose it earlier.

This study followed 220 adults with phenylketonuria (PKU) in France to learn how the disease affects them later in life. Researchers looked for signs of cognitive decline, neurological problems, and how the disease impacts quality of life and social integration. No new treatment …

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 completed study looked at 29 people with hypophosphatasia, a rare bone disease, who had no known genetic cause from standard tests. Researchers used whole genome sequencing to find hidden genetic changes in the ALPL gene. The goal was to better understand the disease and imp…

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 completed study looked at how a very low-carbohydrate (ketogenic) diet changes the way the body makes cholesterol, fatty acids, and ketones. Four healthy men followed both a standard American diet and a ketogenic diet to compare the effects. The goal was to understand the bo…

This study looked at how nerve cells in the eye are lost in people with multiple sclerosis (MS) even when there is no active inflammation. Researchers followed 64 adults with relapsing-remitting MS who were already part of a larger study. By using special eye scans over time, the…

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 looked at nearly 30,000 older adults (65+) having non-cardiac surgery to see if levels of homocysteine, a natural amino acid, could predict serious complications like kidney injury or death. Researchers measured homocysteine before and after surgery. The goal was to se…

This study looked at whether advanced MRI scans and a nerve test called MUNIX can detect the earliest signs of nerve damage in people who carry a gene mutation for familial amyloid neuropathy. Researchers studied 60 adults with the TTR mutation, comparing those with and without s…

This study looked at 150 adults with sepsis in the ICU to see if low magnesium levels are connected to blood clotting problems. Researchers measured magnesium and clotting markers at admission and tracked outcomes like DIC and survival. The goal was to understand if magnesium cou…

This completed study from Aarhus University looked at how the urea cycle works in 10 people with end-stage kidney disease on dialysis. Participants received a 3-hour alanine infusion, and researchers measured urea production before and after dialysis. The goal was to understand u…

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 90 children and teens (ages 7-18) taking antipsychotic medication to see how it affects their hormones, growth, and metabolism. Researchers measured prolactin levels and checked for links to sex hormones, metabolic health, and puberty development. The goal wa…

This study followed 201 adults with diabetes who were hospitalized for COVID-19 in Algeria. Researchers tracked their blood sugar, weight, and kidney function for up to a year after leaving the hospital. The goal was to learn how COVID-19 affects long-term diabetes control and to…

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 looked at 99 people with high heart risk to understand how a protein called CETP affects plaque buildup in arteries. Researchers measured CETP activity, artery thickness, and calcium scores. The goal was to learn more about heart disease, not to test a new treatment.

This study looked at two easy methods to measure hidden belly fat in 110 adults with type 2 diabetes. Researchers compared a simple waist measurement to a device that sends a mild electrical signal through the body. The goal was to see which method better relates to heart disease…

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 followed 67 children with Canavan disease, a rare genetic brain disorder, to learn how the condition naturally changes over time. Researchers reviewed medical records and conducted checkups to track symptoms, milestones, and disease progression. The goal was to better …

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 followed 16 people who had already received a special immune cell treatment (CLBR001 CAR-T) for various types of B-cell blood cancers like lymphoma and leukemia. The goal was to check for any new or long-term side effects that might appear months or years after treatme…

This study explored how teenagers and their parents react emotionally and mentally when they learn about genetic risks for conditions like hereditary breast cancer, Lynch syndrome, or high cholesterol. Researchers surveyed 162 participants using questionnaires and interviews to m…

This study looked at 70 people who had a brain hemorrhage (bleeding stroke) to see if a special PET scan could tell whether the bleeding was caused by amyloid buildup in blood vessels or by high blood pressure. Participants received an injection of a radioactive tracer called Flo…

This study looked at a new blood test that measures copper levels in people with Wilson's disease, a rare condition where copper builds up in the body. Researchers collected extra blood samples from 50 adults during routine visits over about a year. The goal was to see if this te…

This completed study looked for rare, single-gene causes of insulin-dependent diabetes in 127 participants. Researchers collected blood samples and performed metabolic tests to identify genetic defects. The goal was to better understand these genetic forms of diabetes and possibl…

This study looked at how the cells lining blood vessels (endothelial cells) might be involved in stroke-like episodes in people with Congenital Disorders of Glycosylation (CDG). Researchers took blood samples from 6 CDG patients and grew their endothelial cells in the lab to test…

This completed study looked at 200 people with cerebral amyloid angiopathy (CAA), a condition where protein builds up in brain blood vessels, raising the risk of bleeding and cognitive decline. Researchers collected clinical data, brain scans, and samples of spinal fluid and bloo…

This study looked at how two different nutritionally balanced diets affect insulin levels and other markers of metabolic health in 52 adults who are overweight or at risk for diabetes. Participants followed each diet while maintaining their weight, and researchers measured change…

This completed pilot study looked at how high-intensity exercise affects children with MCADD, a rare genetic condition that makes it hard to break down certain fats for energy. Eight participants (4 with MCADD and 4 healthy controls) aged 8-17 did cycling tests and high-intensity…

This study followed 37 people with a genetic risk for hereditary ATTR amyloidosis over five years. Researchers measured levels of misfolded proteins in the blood to see if they could detect the earliest signs of the disease. The goal is to develop a way to catch the condition bef…

This study followed 42 adults with spinal cord injury for one year after leaving rehab. Researchers tracked what they ate, how active they were, and their mood to understand why weight gain happens. The goal is to use this information to design better programs that help people wi…

This completed study examined 292 people with non-alcoholic fatty liver disease (NAFLD) to see if liver scarring is linked to heart disease risk. Researchers used non-invasive tests like the coronary calcium score and liver elastography. The goal was to better understand how to s…

This study examined blood clotting in 57 people with Congenital Disorder of Glycosylation (CDG), a rare genetic condition. Researchers used a special test called the thrombin generation assay to see if the body's clotting system stays balanced despite having low levels of both cl…

This study looked at 44 people with a rare inherited eye condition called Leber Hereditary Optic Neuropathy (LHON) that causes vision loss. Researchers reviewed medical records and asked participants about their vision, health, and quality of life. The goal was to better understa…

This study looked at children aged 6 to 18 who had heart surgery before they were 3 months old. Researchers asked parents to fill out a questionnaire about their child's emotions, behavior, and social skills. The goal was to see if these children face any developmental challenges…

This study looked for two rare genetic diseases, Gaucher disease and acid sphingomyelinase deficiency (ASMD), in 122 adults with an unexplained enlarged spleen or who had their spleen removed for unknown reasons. Researchers used a simple blood spot test to check enzyme activity …

This completed study gave 22 healthy men a single dose of semaglutide (Rybelsus) or a placebo pill to see how it affects cortisol and other stress hormones. The goal was not to treat any disease, but to learn more about how GLP-1 drugs interact with the body's stress system. Part…

This study looked at the gut microbiome (the bacteria living in the digestive tract) of 44 people with mild cognitive impairment, early Alzheimer's, or healthy memory. Researchers wanted to see if lifestyle changes could alter the gut microbiome and whether those changes might be…

This completed study tracked 132 children with obstructive sleep apnea who had their tonsils removed. Researchers recorded how many had breathing problems after surgery, especially those with other health issues. The goal was to create a simple flowchart to help doctors decide wh…

This completed study aimed to find out how many patients with a certain set of symptoms actually have acute hepatic porphyria (AHP), a rare metabolic disorder. Researchers enrolled 150 adults aged 18 to 60 who had severe abdominal pain along with neurological symptoms like limb w…

This study looked at 320 people with HIV in Chile to understand why they often develop health problems like heart disease and diabetes, even when their HIV is controlled with medication. Researchers collected blood samples and used advanced techniques to measure inflammation and …

This study examined 150 adults who had accidentally discovered lumps on both adrenal glands, but no signs of Cushing's syndrome. Researchers checked for mutations in the glucocorticoid receptor gene to see if these genetic changes are more common than previously thought. The goal…

This study looked at 20 adults who have a flat spot in the center of their retina (fovea plana) but no known albinism or vision problems. Researchers used eye scans and genetic tests to see if these people carry gene changes linked to albinism. The goal was to better understand w…

This study looked at 45 adults newly diagnosed with Waldenström's disease, a rare blood cancer. Researchers compared different lab methods to detect a common genetic mutation (MYD88 L265P) in blood and bone marrow samples. The goal was to find less invasive ways to diagnose and t…

This study looked at tiny molecules in the blood called miRNAs to see if they could help doctors tell apart two similar conditions in boys: undescended testicles (which need surgery) and retractile testicles (which usually get better on their own). Researchers took blood samples …

This study followed 170 older adults who had a type of stroke caused by cerebral amyloid angiopathy (CAA), a condition where protein builds up in brain blood vessels. Researchers wanted to see if a specific finding on MRI scans, called cortical superficial siderosis (cSS), could …

This completed study examined blood samples from 40 adults to see if high levels of lipoprotein (a), a type of cholesterol, are linked to fewer or different blood vessel repair cells. Participants with high Lp(a) were compared to those with normal levels. The goal was to better u…

This study looked at how the body processes cortisol in people with a rare genetic condition called familial partial lipodystrophy type 2 (FPL2). The goal was to see if increased activity of a certain enzyme (11β-HSD1) contributes to the severe metabolic problems seen in this dis…

This study looked at 40 adults—some with phenylketonuria (PKU) and some healthy—to see if PKU causes low-level inflammation in the body. Researchers measured inflammatory markers in blood samples. The goal was to better understand how PKU affects overall health, not to test a new…

This study looked at how well the Pfizer COVID-19 vaccine triggers an immune response in 196 adults with weakened immune systems (due to conditions like kidney transplant, cancer, or HIV) compared to healthy adults. Researchers measured antibody levels and their ability to neutra…

This study looked at 65 people with cystinosis to see how well they take their cysteamine medicine and how that relates to brain problems. Researchers measured medicine use with special bottle caps and diaries, and checked for cystine buildup in the brain using scans and spinal t…

This completed study looked at 60 obese patients who had bariatric surgery (like gastric bypass or sleeve gastrectomy). Researchers checked their gut bacteria and hormone levels before and 6-12 months after surgery. The goal was to see how the microbiome changes and if those chan…

This study looks at genetic differences in children with alpha-1 antitrypsin deficiency, a rare inherited condition that can cause liver disease. Researchers will compare gene patterns between children who develop liver problems and those who do not, using blood samples from abou…

This study looked at cells from 21 people with BPAN, a rare brain disease caused by a gene mutation. Researchers wanted to see if the cells have trouble handling stress, which might explain why brain cells die. No treatment was given; the goal was simply to learn more about the d…

This study looked at how children with Noonan syndrome process energy and sugar. Researchers measured insulin sensitivity in 20 children with the condition to see if they have unique metabolic traits. The goal was to better understand the disease, not to test a new treatment.

This study evaluates the long-term cognitive development of children who were exposed to dexamethasone (a steroid) while in the womb because they were at risk for congenital adrenal hyperplasia (CAH). The goal is to see if the drug causes any thinking or memory problems. Research…

This study looked at 15 stroke patients with a condition called cerebral amyloid angiopathy (CAA), which makes blood vessels in the brain fragile and prone to bleeding. All patients received a clot-busting drug (thrombolysis) and were checked for brain bleeding 24 hours later. Re…

This study tested how well two different coenzyme Q10 supplements are absorbed into the blood after a single dose. Twenty-five healthy adults aged 50-65 took each product in a crossover design. The goal was to see if a new experimental formula (BMT® coenzyme Q10) leads to higher …

This study used advanced MRI scans to look for organ damage in 693 adults who had recovered from COVID-19. Researchers focused on the heart, kidneys, and liver to see how often and how severely these organs were affected. The goal was to better understand the long-term health imp…

This study looked at 10 people with rare genetic conditions that cause very low cholesterol and trouble absorbing vitamins. Researchers measured a protective pigment in the eye called macular pigment, which may be low in these patients and could explain why some still develop vis…

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 brain scans from 315 people with two types of small vessel disease: cerebral amyloid angiopathy (CAA) and hypertensive arteriopathy (HA). Researchers wanted to see if the pattern of white matter changes around the brain's fluid-filled spaces could help tell t…

This study looked at 111 people with cerebral amyloid angiopathy (CAA), a condition that causes bleeding in the brain. Researchers used MRI scans to check for iron deposits in the cerebellum, a part of the brain that controls balance and coordination. The goal was to learn where …

This completed study looked at whether children with neurodevelopmental disorders (like mitochondrial disease, cerebral palsy, or developmental delay) have fewer small nerve fibers in their skin, which could cause pain. Researchers took small skin biopsies from 203 children—some …

This completed study followed 12 women with PKU who chose to use PKU Sphere, a special low-protein medical food, before and during pregnancy. Researchers tracked their blood amino acid levels, diet adherence, and pregnancy outcomes. The goal was to see if the product helps mainta…

This study looked at how cystinosis affects muscles, breathing, and swallowing in 20 teenagers and adults. Researchers measured motor function, strength, and walking ability over time. The goal was to better understand the disease's impact on the body, not to test a new treatment…

This study looked at why people with Lowe syndrome, a rare genetic disorder, may have unusual bleeding. Researchers took blood samples from 30 patients to test how well their platelets work. The goal was to confirm and understand any platelet problems that could cause bleeding ev…

This study looked at whether a blood marker called PTX3 can predict how well people do after gastric bypass surgery. Researchers followed 23 patients for 6 months after surgery, measuring weight loss, insulin resistance, and inflammation. The goal was to see if PTX3 levels before…

This study examined blood samples and physical measurements from 158 adults aged 55-69 to see if certain immune system patterns are linked to insulin resistance, a condition that can lead to diabetes. Researchers measured various immune cells and markers to find a profile that co…

This study used powerful MRI scans to track how a rare genetic disease called metachromatic leukodystrophy (MLD) damages the brain's white matter in young children. Researchers studied 29 children aged 1 to 6 years with MLD, along with a control group, to better understand how th…

This study examined 170 men from couples struggling with infertility to see if metabolic syndrome—a cluster of conditions like high blood pressure, high blood sugar, and abnormal cholesterol—is linked to poor sperm quality. Researchers measured sperm count and other sperm feature…

This study looked at whether low vitamin D levels in the first trimester of pregnancy are linked to developing preeclampsia later on. Researchers measured vitamin D in over 3,000 pregnant women in France. The goal was to understand how common vitamin D deficiency is and if it rel…

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 how drinking orange juice compared to a sugar-sweetened beverage affects risk factors for heart disease and type 2 diabetes. Fifty-six adults drank either orange juice or a sugary drink for four weeks. Researchers measured changes in cholesterol, blood sugar,…

This early study tested whether a new version of the enzyme replacement drug agalsidase beta (made by Biosidus) works similarly to the approved drug Fabrazyme. Twenty-four healthy men received a single infusion of one of the two drugs. Researchers measured how the drug moved thro…

This study looked for Fabry disease, a rare genetic disorder, in 409 Portuguese adults with unexplained heart muscle diseases. Researchers tested patients with different types of cardiomyopathy to see how many actually had Fabry disease. The goal was to better understand how comm…

This study involved 39 adults and children with autoinflammatory diseases like FMF and Still's disease. Researchers conducted interviews to understand how these conditions affect quality of life. The goal was to create a tool that doctors can use to better assess and address pati…

This study followed 31 children with GM1 or GM2 gangliosidosis (including Tay-Sachs and Sandhoff disease) to carefully measure how their neurological symptoms, like walking and speech, change over time. The goal was to create a clear picture of disease progression to help design …

This study examined 60 children under 18 with an unexplained enlarged spleen to see how often rare diseases like Gaucher disease were the cause. Researchers ruled out common reasons first, then tested for specific enzyme deficiencies. The goal was to better understand what hidden…

This study tested whether a whole-food plant-based diet, compared to a standard North American diet, can lower LDL cholesterol in 50 adults with heterozygous familial hypercholesterolemia (HeFH). Participants followed each diet for 28 days in a crossover design. Researchers also …

This pilot study tested whether a combination of two drugs (G-CSF and plerixafor) could safely collect enough stem cells from the blood of children with Fanconi anemia for future gene therapy. Only 4 patients took part, and the main goal was to see if the cell collection process …

This study looked at whether an exercise test can be used to monitor patients with a rare hereditary disease that causes severe muscle breakdown (rhabdomyolysis). Researchers measured heart function and oxygen use during exercise in 27 patients. The goal was to find a reliable wa…

This completed study investigated why patients with Cytochrome P450 Oxidoreductase (POR) deficiency, a rare genetic condition, often develop high blood pressure and blood vessel damage. Researchers compared 51 participants (patients and healthy controls) using 24-hour blood press…

This study looks at whether the body's ability to switch between burning fat and sugar (called metabolic flexibility) is linked to changes in metabolic health over 16 years. Researchers will re-examine 18 people who had their metabolic flexibility measured in 2008-2009. They will…