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…

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

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

This study tested an experimental drug called MGL-3196 (resmetirom) in 116 adults with heterozygous familial hypercholesterolemia, a genetic condition causing very high cholesterol. Participants took either the drug or a placebo daily for 12 weeks. The main goal was to see if the…

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 tested the drug patisiran in 10 adults with a rare condition called ATTR amyloidosis that causes nerve damage. Participants received an IV infusion every 21 days for 24 months. Researchers measured changes in nerve function, autonomic symptoms, and quality of life to s…

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 study tested a weekly injection of pegzilarginase (Loargys) in 3 infants under 24 months old with arginase 1 deficiency, a rare genetic disorder that causes harmful buildup of arginine. The goal was to see if the drug is safe and can lower arginine levels in the blood. The t…

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 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 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 early-phase study tested a new drug called nemtabrutinib in 7 Japanese adults with certain blood cancers (like chronic lymphocytic leukemia). The main goals were to check the drug's safety and how the body processes it. Researchers looked for side effects and measured drug l…

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 early-stage study tested two drugs, cabozantinib and pamiparib, together in 44 people with advanced solid tumors that had stopped responding to standard treatments. The goal was to find the safest dose and understand side effects. The drugs work by blocking certain enzymes t…

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 early-stage trial tested a new drug called INCB040093, alone or combined with itacitinib, in 121 adults with B-cell cancers that had come back or stopped responding to treatment. The main goal was to find safe doses and check for side effects. Researchers also looked for sig…

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

This study 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 an oral drug called ADX-629 in 8 people with Sjögren-Larsson syndrome, a rare inherited disorder that causes harmful fatty substances to build up in the skin, brain, and eyes. The main goals were to see if the drug is safe and can reduce these fatty aldehydes. P…

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 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 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 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 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 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 phase 3 trial tested the drug patisiran in 360 people with ATTR amyloidosis with cardiomyopathy, a condition where abnormal protein builds up in the heart, making it stiff and weak. Participants received either patisiran or a placebo intravenously. The study measured how far…

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

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

This study 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 study tested whether a probiotic called Lactobacillus mucosae DPC6426 can lower cholesterol in healthy adults with mildly high levels. Over 12 weeks, 94 participants took either the probiotic or a placebo. The goal was to see if this natural approach could offer a heart-heal…

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

This study tested the drug carfilzomib in 7 people with Waldenström's macroglobulinemia, a rare blood cancer, that had returned after previous treatment. The goal was to see if the drug could shrink tumors and control the cancer. Carfilzomib works by blocking a protein that helps…

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 tested the safety and effectiveness of atorvastatin (Lipitor) in 15 children with Alagille syndrome who had skin cholesterol deposits called xanthomas. The children took the drug for 6 months, and doctors graded the size and number of the lumps. The goal was to see if …

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 tested whether a daily dietary supplement could lower LDL (bad) cholesterol in 90 healthy adults with slightly high levels. Participants took either the supplement or a placebo for 12 weeks, along with standard diet advice. The main goal was to see if the supplement re…

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

This 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 early-stage study tested an experimental drug called ALN-APOC3 in 32 adults with dyslipidemia (abnormal blood fat levels). The main goal was to check safety and how the drug affects fat levels in the blood. Participants were otherwise healthy and either not on statins or on …

This study tested a gene therapy called OTL-200 in 10 children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. The treatment uses the child's own blood stem cells, modified to produce a missing enzyme, and aims to slow or stop disease progres…

This study tested adding lenalidomide to a standard chemotherapy regimen (EPOCH-R) in 55 people with aggressive B-cell lymphomas linked to the MYC gene. The goal was to find the best dose and see if the combination improves how long patients live without their cancer getting wors…

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 completed Phase 3 trial tested whether taking two cholesterol-lowering drugs together works better than one alone. 184 adults with high cholesterol or mixed dyslipidemia took either the combo or a single drug daily for 8 weeks. The main goal was to see how much LDL ('bad') c…

This completed study in Japan looked at the safety and effectiveness of the drug VPRIV (velaglucerase alfa) in 63 people with Gaucher disease. Participants were either new to treatment or switching from another Gaucher therapy. The main goal was to track side effects and serious …

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 two ways of delivering synthetic parathyroid hormone (PTH) to people with chronic hypoparathyroidism, a condition where the body doesn't make enough PTH, causing low calcium. Researchers compared using an insulin pump to give steady, small doses versus twice-dai…

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 study tested a gene therapy called GS010 in 19 adults with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes rapid vision loss. The main goal was to see if the treatment is safe and tolerable at different doses. The therapy uses a harmless vi…

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 study tested an engineered probiotic called CBT102-A in 15 children with phenylketonuria (PKU), a condition where the body cannot break down an amino acid called phenylalanine. The children took the probiotic or a placebo for 20 days. The goal was to see if the probiotic cou…

This completed trial tested whether PKU GOLIKE, a special food for managing PKU, works better than standard amino acid protein substitutes at controlling blood phenylalanine levels. Sixteen children with PKU, aged 5 to 16, took part in a crossover study where they tried both prod…

This Phase 3 trial tested an oral drug called enlicitide decanoate (MK-0616) in 303 adults with heterozygous familial hypercholesterolemia, an inherited condition causing very high cholesterol. Participants took either the drug or a placebo daily for up to 52 weeks. The main goal…

This study tested a daily pill called ETC-1002 in 130 adults with very high LDL ("bad") cholesterol who either didn't respond well to statins or had side effects from them. Over 52 weeks, researchers checked how safe the drug was and how much it lowered cholesterol. The goal was …

This early-stage study tested a new drug called ALN-TTRSC04 in 96 healthy people to see if it is safe and how the body processes it. The drug aims to lower a harmful protein that causes transthyretin amyloidosis, a serious disease affecting nerves and the heart. Participants rece…

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

This 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 completed phase II study tested a combination of two drugs—tadalafil (Cialis) and pembrolizumab (Keytruda)—in 7 adults with advanced head and neck cancer that had spread or come back. The goal was to see if the combination was safe and could help control the disease. Because…

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 tested a combination of three drugs (zanubrutinib, ixazomib, and dexamethasone) in 25 people newly diagnosed with Waldenström macroglobulinemia, a rare blood cancer. The treatment was given for up to 24 months and then stopped, aiming to achieve deep remission and redu…

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

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

This study looked at the long-term safety of a drug called migalastat in 16 people over age 12 with Fabry disease, a rare genetic disorder. Participants had already completed an earlier study and continued taking migalastat to see if it was safe and how it affected kidney functio…

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 early-stage trial tests NTLA-2001, a CRISPR-based gene editing therapy, in 72 adults with hereditary ATTR amyloidosis—a condition where abnormal protein builds up in nerves or the heart. The treatment aims to turn off the faulty gene to reduce protein levels. The study focus…

This completed early-phase trial tested whether switching HIV medications to doravirine (with emtricitabine and tenofovir alafenamide) could improve cholesterol and reduce early signs of artery hardening compared to staying on integrase inhibitors. Twenty-six adults with well-con…

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 tested whether the drug vericiguat can improve the function of small blood vessels in the heart for people with metabolic syndrome (a cluster of conditions like high blood pressure and belly fat). 45 adults took either vericiguat or a placebo for 6 weeks. Researchers u…

This study tested a drug called zanubrutinib in 96 people with certain types of B-cell lymphoma (like chronic lymphocytic leukemia or mantle cell lymphoma) who had bad side effects from similar drugs like ibrutinib or acalabrutinib. The main goal was to see if zanubrutinib causes…

This study tested an oral drug called LOXO-305 (pirtobrutinib) in 803 people with chronic lymphocytic leukemia, small lymphocytic lymphoma, or other non-Hodgkin lymphomas whose cancer had stopped responding to or could not tolerate standard treatments. The goal was to find the be…

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

This study 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 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 early-phase trial tested a gene therapy for cystinosis, a rare genetic disorder that causes cystine crystals to build up in cells, damaging organs. Researchers took blood stem cells from 6 patients, added a working copy of the faulty gene, and infused the corrected cells bac…

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 whether a very low-carbohydrate ketogenic diet could improve brain network stability and thinking skills in people with schizophrenia or bipolar disorder. The diet is high in fat and low in carbs, which makes the body produce ketones that may provide extra energ…

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 new drug called vutrisiran in 164 people with a rare inherited disease that damages nerves and organs. Participants received either vutrisiran as a shot every 3 months or the standard treatment patisiran as an IV infusion every 3 weeks. The goal was to see if …

This study tested a drug called bitopertin in 75 adults with erythropoietic protoporphyria (EPP), a rare condition that causes severe pain from sunlight exposure. The goal was to see if the drug is safe and can lower levels of a harmful substance in the blood. Participants receiv…

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 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 Phase 3 trial tested MCI-196, a drug that binds phosphorus and lowers cholesterol, in 642 adults on dialysis with chronic kidney disease. Participants received either MCI-196 or a placebo for 12 weeks. The goal was to see if the drug could safely reduce both serum phosphorus…

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 early-phase study tested a drug called adrabetadex (VTS-270) given through a vein to treat liver disease in infants with Niemann-Pick disease type C, a rare and fatal genetic disorder. Four babies up to 6 months old received multiple doses to see if the drug could lower abno…

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

This completed trial looked at whether taking two cholesterol-lowering drugs (rosuvastatin and ezetimibe) is more effective and safer than taking just one (rosuvastatin) for people with heart disease. 66 adults with high cholesterol were randomly assigned to one of the two treatm…

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 three different diets—a traditional Mediterranean diet, a low-carb Mediterranean diet, and a high-protein diet—in 45 adults who are overweight or have obesity. Over 12 weeks, researchers measured changes in weight, body fat, muscle, and blood markers like choles…

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 a black seed extract (Nisatol®) in 50 perimenopausal women with metabolic syndrome, a cluster of conditions like high blood sugar and blood pressure. Over 4 months, researchers measured changes in blood sugar, cholesterol, blood pressure, and menopausal symptoms…

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

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

This early-stage study tested a new medicine called ARO-ANG3 in 93 people, including healthy volunteers and patients with high cholesterol or high triglycerides. The main goal was to check if the drug is safe and how the body processes it. This research helps determine if the dru…

This study tested a program that combines small loans and group support to help people with HIV in Kenya. The goal was to improve HIV medication adherence, mental health, and family relationships. 843 people took part, and the program aimed to reduce depression, anxiety, and PTSD…

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

This early-stage study tested a new medicine called ARO-APOC3 in healthy volunteers and people with severely high triglycerides or a rare genetic condition called familial chylomicronemia syndrome. The main goal was to check safety and how the drug moves through the body. The stu…

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 looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…

This early-stage study tested the safety of Atorvo+™, a new drug that combines the common cholesterol-lowering medication atorvastatin with cannabidiol (CBD). The trial involved 24 healthy adults aged 40-75 to see how the body processes the drug and if it causes any side effects.…

This study tested whether taking green tea extract for one month could improve gut health and reduce inflammation in people with metabolic syndrome and in healthy adults. Participants took either the extract or a placebo for a month, then switched. The study measured markers of i…

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 tested an experimental drug called GLM101 in 27 people with PMM2-CDG, a rare genetic condition that causes problems with balance and movement. Participants received different doses of the drug intravenously over 24 weeks. The main goal was to see if the drug improves c…

This Phase 3 trial tested the drug SHR-1918 in 55 people with homozygous familial hypercholesterolemia (HoFH), a rare genetic condition causing extremely high cholesterol. Participants received either the drug or a placebo, and researchers measured how much their LDL (bad) choles…

This completed Phase 4 trial tested the drug Mexidol in 80 people with advanced primary open-angle glaucoma. The goal was to see if the drug could improve the function of mitochondria in cells and protect the optic nerve. Participants were randomly assigned to receive Mexidol or …

This study tested a new way to give Alpha-1 protein therapy by injecting it under the skin instead of into a vein. Seventeen adults with Alpha-1 Antitrypsin Deficiency received either a low or high dose weekly for eight weeks. The main goal was to check safety and how the drug mo…

This study tested different doses of the drug Mexidol in 102 adults with moderate to advanced open-angle glaucoma. The goal was to see if the drug could improve vision compared to a placebo. Participants took the drug or placebo in a sequence over several months, and their vision…

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

This study 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 Phase 3 trial tested a new combination drug called Cipros 10 against the standard statin Crestor in 146 adults with dyslipidemia (high cholesterol and triglycerides). The goal was to see if Cipros 10 could lower triglyceride levels more effectively. Participants took one pil…

This study tested a gene therapy for children with metachromatic leukodystrophy (MLD), a rare, inherited brain disease that causes severe disability and early death. The treatment uses the child's own blood stem cells, which are modified in a lab to carry a working copy of the mi…

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 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 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 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 a simple, low-cost plastic ruler called the Bili-ruler to screen newborns for jaundice. Over 4,000 infants were checked with the ruler, a standard device, and visual inspection. The goal was to see if the ruler can accurately identify dangerous jaundice, especia…

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

This study tested whether a special PET/MR scan using a radioactive tracer called F-18 florbetapir can detect amyloid protein buildup in the nerves of people with amyloidosis. Eight adults with confirmed nerve amyloidosis or other nerve diseases took part. The goal was to see if …

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

This study tested a new 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 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 12-week diet and lifestyle program called the SWW Method in 85 women aged 35-75. The program included intermittent fasting, a high-protein diet, and other healthy habits. Researchers measured changes in blood sugar, weight, and other markers to see if it could…

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

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

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

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

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

This study tested 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 whether adding acupuncture to standard care can slow down memory and thinking problems in people with mild Alzheimer's disease. Researchers compared real acupuncture to a fake (sham) procedure in 160 participants to see if the effects were real or just a placebo…

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 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 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 completed study tested whether semaglutide, a drug used for type 2 diabetes and weight loss, could improve sleep apnea in 15 people with diabetes or obesity. Researchers measured breathing pauses during sleep (AHI) after 1 and 4 weeks of treatment. The goal was to see if the…

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 the drug Northera (droxidopa) is safe and helpful for adults with Menkes disease or Occipital Horn Syndrome who have trouble with low blood pressure and other symptoms of dysautonomia. Three participants took either the drug or a placebo in a crossover d…

This study looked at whether placing a white cover over the incubator and giving gentle massage during phototherapy can lower bilirubin levels faster in newborns with jaundice caused by ABO incompatibility. Sixty full-term babies were included. The goal was to see if these simple…

This study looked at whether people with Wilson's disease prefer a new once-daily version of the drug trientine over their usual treatment, which is taken multiple times a day. Ten adults on stable standard care tried the new formulation and reported their satisfaction and conven…

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 looked at whether using finger puppets, video games, or stress balls can help reduce fear and improve emotional behavior in children aged 4-6 who need inhaler therapy. 120 children participated, and researchers measured their fear levels, emotional responses, and paren…

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…

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 study tested a drug called TAK-625 (maralixibat) in 5 Japanese children with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease that causes severe itching. The main goal was to see if the drug reduces itching over 26 weeks. Researchers also checked sa…

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 whether drinking VitalPLANT and Helichrysum italicum teas for one week could improve signs of metabolic syndrome in 30 overweight adults. Participants had at least two components of metabolic syndrome and were not taking any related medications. Researchers meas…

This study looked at whether covering the incubator with a white cover and giving baby massage during phototherapy can lower bilirubin levels and shorten treatment time in newborns with jaundice. Researchers studied 60 full-term babies receiving phototherapy. The goal was to see …

This study tested a drug called MT-7117 in 184 people aged 12 to 75 with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain from sunlight. The goal was to see if the drug could delay the first signs of sun sensitivity (bur…

This phase 2 trial tested a drug called MT-7117 in 102 adults with erythropoietic protoporphyria (EPP), a rare condition that causes severe pain from sunlight. Participants took either a low dose, high dose, or placebo daily for 16 weeks. The goal was to see if the drug could inc…

This study tested two types of time-restricted eating in 103 overweight adults with metabolic syndrome. One group ate all their food within an early 8-hour window, the other within a late 8-hour window. Researchers measured changes in body weight and belly fat to see which timing…

This study tested whether taking a high dose of vitamin D3 daily for 12 weeks could improve muscle strength and mass in older adults with obesity. Researchers enrolled 29 participants aged 60 and older in southern Mexico. They measured handgrip strength, muscle mass, and physical…

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 looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…

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

This completed study 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 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 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 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 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…

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 tests whether wearable sensors and digital home tasks can track changes in movement, speech, and falls in people with ALS. About 20 participants will wear neck and wrist sensors and complete speech and handwriting tests over 48 weeks. The goal is to see if these digita…

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 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 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 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 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 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 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 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 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 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 checks if a program called COPE helps Navajo people with diabetes and related health problems. The program uses community health workers to support patients and connect them with doctors. Researchers compared nearly 29,000 people who took part in COPE with those who di…

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

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

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

This 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 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 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 small pilot study looked at whether combining walking with mindful attention is a practical and acceptable way to help people with metabolic syndrome become more active. 34 participants were assigned to a walking program, a mindfulness program, both, or neither. The goal was…

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 early-stage study tested a single injection of HRS-5632 in 50 healthy adults to check its safety and how the body processes it. Participants were aged 18 to 55 and in good health. The study did not aim to treat any disease, only to gather initial safety information.

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 study looked at whether a special drink called ketone ester can improve brain energy use and thinking skills in healthy adults aged 55 and older who have metabolic syndrome. Participants took the drink or a placebo for 28 days and had brain scans and memory tests. The goal w…

This study looked at 470 adults aged 18-75 with type 2 diabetes and metabolic syndrome to identify their Traditional Chinese Medicine (TCM) patterns. Researchers used a standard questionnaire and four TCM diagnostic methods to classify each person's syndrome. The goal was to bett…

This study looked at 30 people with cystinosis, a rare disease that causes crystals to build up in the body. Researchers wanted to understand why some patients have lighter skin patches and how this relates to the disease. They studied genetic and skin samples to find the molecul…

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 looked at 86 people with very high or very low cholesterol efflux—a measure of how well the body removes cholesterol from cells. Researchers analyzed their genes, proteins, and lipids to find clues that could lead to new ways to prevent or reverse heart disease. The go…

This study looked at whether waiting 60 seconds to clamp the umbilical cord (delayed cord clamping) raises bilirubin levels in newborns whose mothers had a previous child with jaundice needing treatment. Twenty mothers and their babies took part. The goal was to see if delayed cl…

This completed study monitored 100 adults with Fabry disease using a wearable device and questionnaires to measure physical activity, sleep, and quality of life. The goal was to understand how daily movement and rest relate to anxiety, depression, and overall well-being. No treat…

This study aims to develop a computer algorithm that can detect Fabry disease earlier by analyzing hospital electronic health records. Researchers will look at data from the past 10 years to see if they can identify patients with Fabry disease using a ranking system. No drugs or …

This completed study looked at newborn screening for congenital adrenal hyperplasia (CAH) in Italy. Researchers reviewed medical records of 29 infants diagnosed with classic CAH between 2006 and 2019 to see how accurate the screening was. The goal was to measure the screening's s…

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 tested whether a genetic score could predict how well adults with metabolic syndrome respond to a calorie-cutting diet. 115 Mexican adults followed a reduced-calorie diet for a period, and researchers measured changes in waist size, blood sugar, cholesterol, and blood …

This study tested new MRI and MRE techniques that let children breathe normally during scans, instead of holding their breath. The goal was to measure liver fat and stiffness more comfortably and accurately in kids with fatty liver disease. 135 children aged 6-17 took part, and t…

This study looked at two new blood tests, called exchangeable copper (EC) and relative exchangeable copper (REC), to see if they could better monitor Wilson's disease than standard tests. Researchers compared these blood tests with usual copper measurements in 81 adult patients w…

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

This 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 whether a 12-month lifestyle program could lower body fat and change certain gene markers in 26 adults with metabolic syndrome. Participants tracked their food and activity using a mobile app, and had blood tests and body scans at the start and end. The goal …

This study checked in on 5 adults with Fabry disease who had been taking enzyme replacement therapy (ERT) since childhood for about 15 years. Researchers measured kidney function and heart health to see how well the long-term treatment worked. The goal was to gather follow-up dat…

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 followed 10 people with late onset Tay-Sachs disease to see how their symptoms and body chemistry changed over six months. Researchers measured balance, coordination, and brain chemicals. The goal was to gather information that will help design better clinical trials f…

This study looked at whether a new test (CDMT) helps primary care doctors make better decisions for patients with cardiometabolic syndrome. 247 board-certified physicians participated, with some using the test and others not. Researchers measured the quality of care and expected …

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

This study tested whether weekly community-led group discussions could improve trust and openness to COVID-19 testing and vaccination. Fifty-seven adults from nine housing agencies took part in online meetings and completed surveys over six months. The goal was to see if peer-led…

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 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 study looked at how taking statins (a common cholesterol-lowering drug) along with a structured exercise program affects muscle cells and overall fitness in adults aged 40-65 with high cholesterol. 120 participants were split into four groups: exercise plus placebo, exercise…

This study gave 6 healthy adults a single tiny dose of labeled microplastics to track how much gets absorbed into the blood and how it leaves the body through urine and stool. Participants provided samples over 5 days. The goal is to understand basic movement of microplastics in …

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 study looked at medical records from over 11,900 adults in China who took either inclisiran or PCSK9 mAbs to lower their high cholesterol. Researchers wanted to see how well these drugs worked in everyday medical practice, not just in controlled trials. The study found that …

This study measured levels of brain chemicals related to oxidative stress and inflammation in people with type 1 Gaucher disease and healthy volunteers. Researchers gave 33 participants with Gaucher disease the antioxidant N-acetylcysteine (NAC) for about 90 days to see if it cha…

This study tested whether taking gum arabic, a natural dietary fiber, can improve markers of metabolic syndrome in 100 postmenopausal women. The researchers looked at changes in inflammation, blood sugar, and cholesterol levels. The goal was to understand how gum arabic might wor…

This study looked at how daily rhythms—like sleep and meal timing—affect fat cell genes and insulin response in 28 women with obesity scheduled for bariatric surgery. Researchers used timed lights and meals to align or disrupt the body's internal clock, then measured changes in f…

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 followed 52 people with limb-girdle muscular dystrophy 2I (LGMD2I) for up to two years to learn more about how the disease changes over time. Researchers measured walking ability, muscle strength, heart function, and daily activities. The goal was to better understand …

This completed study looked at how much time healthcare professionals spend preparing and giving enzyme replacement therapy (ERT) to adults with Fabry disease. It also measured the impact on patients and their caregivers, including time, costs, and quality of life. The goal was t…

This study analyzed data from over 12,000 past ICU patients to compare three approaches for treating low magnesium levels: no treatment, daily magnesium, or magnesium only when daily tests show low levels. The goal was to see which strategy best reduces the risk of death within 2…

This study examined the relationship between metabolic syndrome and vitamin D levels in 549 older adults (65+). Researchers collected health questionnaires and blood samples to understand how these factors are connected. The goal was to gather knowledge, not to test a treatment.

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 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 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 study looked back at the medical records of 38 people who have a specific genetic form of propionic acidemia, a rare metabolic disorder. The goal was to describe how the condition progresses over time, especially heart problems, and to create a better plan for preventive car…

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

This completed observational study looked at how gut length and gut bacteria relate to how well healthy people absorb energy from food. Researchers measured gut length via MRI, tracked food intake, and analyzed energy in feces and urine. The goal was to better understand the link…

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 whether taking short walks at different frequencies during long periods of sitting can improve blood sugar and fat levels. Twenty-five healthy but sedentary adults participated. Researchers measured changes in blood markers after different patterns of sitting…

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

This study tested a mobile health tool called CAARE to help children under 12 and their caregivers cope with emotional and behavioral challenges after a traumatic injury. Researchers measured changes in distress, PTSD symptoms, depression, and quality of life in 54 participants. …

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

This study looked at how an experimental drug called AZD0780 affects the way the body processes metformin, a common diabetes medicine. Fourteen healthy volunteers took both drugs, and researchers measured drug levels in the blood. The goal was purely to gather information on drug…

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 early-stage study tested a new drug called DW5124 in 55 healthy adults to see how safe it is and how the body processes it. Researchers also checked whether taking the drug with food changes its effects. The goal was to gather basic information before testing the drug in peo…

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

This 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 study looked at how the drug Palynziq, which lowers phenylalanine levels in the blood, affects the brain and thinking abilities in adults with phenylketonuria (PKU). Six participants who were already taking Palynziq underwent brain scans and cognitive tests to measure change…

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 early-stage study tested the safety and how the body processes a new drug called ARO-AAT in 45 healthy adults. The goal was to see if the drug is safe and to measure its levels in the blood. This research is a first step toward a possible treatment for Alpha-1 Antitrypsin De…

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 offered free genetic testing to immediate family members of children found to have a genetic marker for familial hyperlipidemia (FH), a condition that causes very high cholesterol and early heart disease. The goal was to see if large-scale testing can identify at-risk …

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 followed 215 people newly diagnosed with HIV in Hong Kong to see how often they developed non-AIDS conditions like high blood pressure, diabetes, bone thinning, and kidney problems. Participants were on different anti-retroviral regimens, and researchers compared the r…

This study tested whether a special type of MRI (multiparametric MRI) can reliably measure kidney function in people with metabolic syndrome—a cluster of conditions like obesity, high blood pressure, and high blood sugar. Researchers compared MRI results between 46 healthy volunt…

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

This study 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 2000 adults with early heart disease to understand how inherited high cholesterol (familial dyslipidemia) contributes to heart attacks. Researchers reviewed medical records to find patterns in cholesterol levels. The goal was to highlight the need for better …

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…