Inborn errors of metabolism

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

This early-stage trial tests a single-dose gene therapy called LY-M003 in 18 adults with Wilson's disease, a genetic condition that causes copper buildup. The goal is to see if it's safe and can reduce or eliminate the need for standard daily medications. Participants receive one…

This trial tests whether a single daily pill that combines treatments for high blood pressure, high cholesterol, and type 2 diabetes can lower the risk of heart disease and dementia. The study involves over 8,000 adults aged 50 to 75 in China who have all three conditions. Partic…

This pilot study tests a temporary, flexible tube called a duodenal-jejunal bypass sleeve. It is placed in the upper intestine using an endoscope and left for 3 months to help with weight loss and improve metabolic syndrome. The study involves 20 adults with obesity or excess wei…

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

This trial tests whether using higher (less strict) bilirubin thresholds for starting light therapy in very preterm infants (born before 30 weeks) is as safe as the current Dutch guidelines. About 680 babies across Dutch NICUs will be randomly assigned to one of two threshold str…

This early-phase trial tests a single intravenous dose of a gene editing therapy called LNP.UCD.ABE in 7 children with severe urea cycle disorders. The therapy aims to correct the genetic defect using a lipid nanoparticle to deliver a base editor. The main goal is to check safety…

This study tests whether a sugar called D-galactose (AVTX-801) can help people with SLC35A2-CDG, a rare inherited disorder that disrupts how the body adds sugar to proteins. The trial enrolls about 10 people of any age who have seizures or chronic digestive issues. Participants r…

This study tests whether the drug metyrapone can safely lower cortisol levels in people with mild autonomous cortisol secretion (MACS), a condition where the adrenal glands produce too much cortisol. Participants will receive either metyrapone or a placebo for a short period, and…

This study tests a new microtablet protein substitute for people with phenylketonuria (PKU), a condition requiring a strict low-protein diet. The microtablets combine protein with vitamins and minerals, aiming to be easier to take than current liquid or powder options. About 20 a…

This study tests a 6-month program where patients work with a pharmacist and their primary care doctor to make shared decisions about medications and lifestyle. The goal is to see if this team-based approach improves heart and kidney health scores and medication adherence. The st…

This study tests whether a cream containing simvastatin (a cholesterol-lowering drug) can safely shrink yellow cholesterol deposits on the eyelids, called xanthelasma. Thirty adults will apply either the active cream or a placebo nightly for 24 weeks, then everyone gets the activ…

This early-stage trial tests a new drug called LY4152199 in about 215 adults with certain types of blood cancer (like follicular lymphoma or diffuse large B-cell lymphoma) that have already been treated. The drug is designed to help the body's immune cells attack the cancer. The …

This study tests a procedure called pulsENDO that uses mild electric pulses to regenerate the lining of the duodenum (the first part of the small intestine). The goal is to improve blood sugar control and reduce fat buildup in the liver for people with type 2 diabetes and fatty l…

This pilot study tests whether a connected blood pressure monitor, supervised daily by a healthcare assistant, helps patients with blood cancers like CLL or lymphoma stick to home monitoring. The goal is to catch and manage high blood pressure early, a common side effect of BTK i…

This study tests whether a low dose of colchicine, a common anti-inflammatory drug, can slow down blood vessel hardening and bone problems in people with stage 3 chronic kidney disease. About 60 adults will take colchicine or receive usual care for 12 months. The goal is to see i…

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

This early-phase trial tests whether giving healthy stem cells from the mother to a fetus diagnosed with Fanconi anemia can safely improve the baby's blood cell production. The treatment is a one-time injection into the fetus during pregnancy. The study will enroll 12 pregnant wo…

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

This study tests two experimental drugs (rocbrutinib and lacutoclax) taken together to treat several types of blood cancers, including lymphoma and leukemia. The goal is to see if the combination is safe and can shrink or control the cancer. About 92 adults who have already tried…

This study is for adolescents and young adults (ages 12-39) newly diagnosed with aggressive brain tumors called high-grade glioma or DIPG. The goal is to see if a combination of two immunotherapy drugs (relatlimab and nivolumab, sold as Opdualag) is safe and tolerable when given …

This early-stage trial tests a single injection of MWX205 in 37 adults with high cholesterol or blood fats (dyslipidemia). Researchers will check if the drug is safe, how the body processes it, and how it affects cholesterol levels compared to a placebo. The goal is to find the r…

This study follows 100 adults with congenital adrenal hyperplasia (CAH) who switch from standard steroids to a timed-release hydrocortisone (Efmody). The goal is to see if better mimicking the body's natural cortisol rhythm improves hormone levels, metabolic health, and quality o…

This study tests whether adding hyaluronic acid gel to standard deep cleaning (scaling and root planing) improves gum healing in people with both diabetes and advanced gum disease. Twenty-three participants will receive the standard cleaning on all teeth, and then two gum pockets…

This study tests an oral drug called glycerol tributyrate in 24 adults with MELAS or LHON-Plus, two rare mitochondrial diseases that cause severe symptoms like strokes and vision loss. The trial is open-label (everyone gets the drug) and uses each person as their own control over…

This Phase 3 trial tests whether a new combination pill containing laroprovstat and rosuvastatin lowers LDL cholesterol better than rosuvastatin alone. About 200 adults with high cholesterol and a history of heart disease or high risk will take either the combo or a placebo plus …

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

This study will compare three approaches before gastric bypass surgery for severe obesity: taking the medication tirzepatide for 60 days, following a ketogenic diet for 4 weeks, or receiving standard care. The goal is to see which method leads to the most weight loss one year aft…

This study tests a new pill that combines two drugs (laroprovstat and rosuvastatin) to lower LDL or 'bad' cholesterol. About 600 adults with high cholesterol who have never taken cholesterol-lowering medication will receive either the combination, one of the drugs alone, or a pla…

This study tests whether a wearable goggle system that makes parathyroid glands glow can help surgeons find and protect them during thyroid removal. About 280 adults having thyroid surgery will take part. The goal is to reduce the risk of low calcium levels after surgery, a commo…

This study tests a new drug called zodasiran in 12 teens aged 12 to 17 with homozygous familial hypercholesterolemia, a rare genetic condition causing very high cholesterol. The drug is given as a shot under the skin. The main goal is to see if it safely lowers bad cholesterol af…

This Phase 3 trial compares a new once-daily formulation of trientine tetrahydrochloride (TETA 4HCl) to the standard drug D-penicillamine for people newly diagnosed with Wilson's disease. About 38 adults and children (ages 8 and up, weighing at least 55 lbs) will be randomly assi…

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

This study tests a new tool called the Snouda Metabolic Score (SMS) that helps doctors identify the specific metabolic problems driving Type 2 Diabetes in each patient. 150 adults will follow a personalized 24-week lifestyle and nutrition plan based on their SMS results. The goal…

This early-stage trial tests a new gene therapy called VGN-R08b for children with type III Gaucher disease, a rare genetic disorder affecting the brain and body. The treatment is given as a single injection into the brain's fluid spaces. The study will monitor safety and measure …

This study looks at whether a 12-week structured diet and exercise plan can help adults aged 50 and older with obesity and insulin resistance lose fat and improve muscle function. Participants will receive all meals and exercise three times a week under supervision. The goal is t…

This study will review medical records and call patients who received AGN1 LOEP, a device injected into the hip bone to treat osteoporosis. Researchers want to see how many patients later had hip fractures and whether any side effects occurred. The goal is to understand how well …

This Phase 2 trial tests an injection called SYH2070 in 18 Chinese adults with homozygous familial hypercholesterolemia (HoFH), a rare genetic condition causing extremely high cholesterol. Participants receive the drug for 48 weeks to see if it safely lowers their LDL cholesterol…

This early-phase trial tests a gene therapy for children with CLN6 Batten disease, a rare and fatal brain disorder. Twelve children will receive a single injection of the therapy into the fluid around the spinal cord. Researchers will check if it is safe and if it can slow the di…

This study tests whether a structured 12-week program focusing on nutrition, exercise, sleep, and stress management can improve fatigue, physical function, and quality of life in people with relapsing-remitting multiple sclerosis. Thirty participants will first be observed for 12…

This study will test whether an artificial intelligence (AI) system can help community doctors better manage patients who have high blood pressure along with diabetes or high cholesterol. About 6,800 adults will be split into two groups: one where doctors use the AI tool to guide…

This study tests whether higher doses of the drug Respreeza/Zemaira can slow lung damage better than the standard dose in adults with emphysema caused by Alpha-1 antitrypsin deficiency. About 270 participants will receive weekly IV infusions for 3 years. The goal is to find the o…

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

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

This phase 3 trial tests whether PLX-200 (gemfibrozil) can safely slow the progression of CLN3 disease, a rare genetic disorder that causes loss of motor skills, vision, and seizures in children. About 39 kids aged 6-18 will receive either the drug or a placebo for up to 96 weeks…

This study tests a daily injection called elamipretide in 48 people with genetically confirmed Barth syndrome, a rare condition that causes muscle weakness and heart problems. Participants will receive either the drug or a placebo for 72 weeks. The main goal is to see if the drug…

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

This study tests whether a dietary supplement made from halophyte plant extracts (like salicornia) and B vitamins can improve cholesterol levels in people recently diagnosed with dyslipidemia who do not yet need medication. About 250 participants will take the supplement or follo…

This early-stage study tests a single dose of BSA204, an experimental injection, in 40 Chinese adults with borderline high lipoprotein(a) – a fatty substance linked to heart disease. The main goal is to check safety and side effects, while also measuring changes in cholesterol le…

This phase II trial is testing the safety and effectiveness of combining two drugs, mosunetuzumab and pirtobrutinib, in 25 adults with relapsed or refractory Waldenstrom Macroglobulinemia, a rare blood cancer. Participants must have had at least one prior treatment. The study aim…

This study will give 150 children and teens with high blood pressure, high cholesterol, or obesity a free debit card to buy fruits and vegetables, plus virtual nutrition classes. The goal is to see if this program helps improve their heart health over 6 to 12 months. Participants…

This study looks at whether taking berberine, a natural supplement, can improve blood fat levels and blood pressure in people with cardiometabolic syndrome. Researchers will compare berberine to a placebo in 40 healthy adults aged 18-65. The goal is to see if berberine can help c…

This study tests a dietary supplement called Cardiol Forte in 50 adults with mildly high cholesterol but low overall heart risk. Participants will take either the supplement or a placebo for 8 weeks, then everyone gets the supplement for another 8 weeks. The goal is to see if it …

This study looks at whether metabolic surgery (like gastric bypass) can reduce the severity of atrial fibrillation (AF), a common heart rhythm problem, in people with obesity. About 100 adults with AF and a BMI between 35 and 65 will be randomly assigned to either surgery or medi…

This study tests a drug called crinecerfont in 20 children aged 3 months to 4 years with classic congenital adrenal hyperplasia (CAH). The goal is to see if the drug is safe and tolerable. Participants must already be on stable hydrocortisone treatment. The study is not yet recru…

This study tests whether adding exercise-focused lifestyle coaching to a personalized diet plan improves health in 435 overweight or obese adults with metabolic syndrome. Participants will either follow a diet plan alone or a diet plan plus an intelligent lifestyle program that t…

This study tests whether adding a bone-marrow concentrate injection during routine back surgery helps the spinal disc heal better. About 90 adults with a herniated disc will get either surgery alone or surgery plus the injection. Researchers will use MRI scans and pain questionna…

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

This study will test whether a low-calorie diet rich in medium-chain triglycerides (MCTs) from traditional Minangkabau foods can improve metabolic health in 40 obese adults. Participants will follow a diet based on coconut milk dishes for a period, and researchers will measure ch…

This early-stage trial tests giving a gene therapy to unborn babies diagnosed with GM1 gangliosidosis, a severe genetic disorder that damages the brain and body. The therapy uses a harmless virus to deliver a working copy of the missing enzyme gene. The main goal is to see if the…

This early-stage trial tests UX016, a drug designed to help people with GNE myopathy, a rare genetic muscle-weakening disease. Researchers will give the drug or a placebo to 24 adults to see if it is safe and improves muscle strength. The study is not yet recruiting.

This study will follow 12,000 Korean adults with dyslipidemia (high cholesterol) who are prescribed Baroezet Tablet by their doctor. Researchers will measure changes in LDL ("bad") cholesterol and other fats in the blood over 24 weeks, and track any side effects. The goal is to s…

This study is for people who completed a previous trial of KL1333 (napazimone) for primary mitochondrial disease. It will test the drug's long-term safety and whether it helps with fatigue and daily activities. About 140 participants will take the pill twice daily for an extended…

This phase 2 trial tests the drug setmelanotide in one person with pseudohypoparathyroidism type 1a (PHP1a), a rare genetic disorder that often causes severe obesity. The participant will receive daily injections of setmelanotide for six months to see if it leads to weight loss a…

This Phase 3 trial tests an injection called SYH2053 for people with heterozygous familial hypercholesterolemia (HeFH), a genetic condition causing very high LDL cholesterol. About 135 adults on stable statin therapy will receive either the drug or a placebo. The main goal is to …

This Phase 3 trial will test whether a combination of three cholesterol-lowering drugs—bempedoic acid, ezetimibe, and a high-intensity statin—can reduce and stabilize plaque buildup in the coronary arteries. The study enrolls 103 adults with coronary atherosclerosis who have neve…

This early study tests a new injection called ART002g1 in 24 adults with a genetic form of high cholesterol (HeFH). The injection uses gene editing to lower a protein that raises cholesterol levels. The main goal is to check safety and how well the drug works at reducing choleste…

This trial is for adults with multiple myeloma or Waldenstrom macroglobulinaemia. It tests whether giving certain drugs less often can control the disease as well as the standard schedule. The goal is to find the best balance between effectiveness and quality of life. About 400 p…

This phase 2b trial tests AVTX-801, a D-galactose supplement, in 8 adults with PGM1-CDG, a rare genetic disorder affecting sugar metabolism. Participants currently on D-galactose will receive either the study drug or a placebo to see if it reduces disease-related events like low …

This study tests whether a person's own stem cells, processed and given by IV, can safely help with multiple system atrophy (MSA) — a rare, worsening brain disease that affects movement and automatic body functions like blood pressure. Fifty adults aged 35 to 65 will receive eith…

This Phase 2 trial tests lisaftoclax, an oral drug that blocks a protein helping cancer cells survive. It enrolls 75 adults with certain slow-growing lymphomas (CLL, WM, or MZL) who either cannot take standard BTK inhibitors due to health issues or have stopped them due to side e…

This study tests a combination of three drugs (nemtabrutinib, bortezomib, and rituximab) in people with Waldenstrom's macroglobulinemia, a rare blood cancer. The goal is to see how well the treatment shrinks tumors and controls the disease. About 19 adults who have not yet been t…

This study tests a new gene therapy for GM2 gangliosidosis, which includes Tay-Sachs and Sandhoff diseases. Researchers will take blood cells from 6 patients, fix the genetic defect in the lab, and then see if these cells can help brain cells work better. The goal is to show the …

This Phase III trial tests QLC7401, a new RNA-based drug, in 120 adults with heterozygous familial hypercholesterolemia (a genetic condition causing very high cholesterol). Participants already on cholesterol medication will receive either QLC7401 or a placebo injection. The stud…

This Phase 3 trial tests a new drug called QLC7401 in about 780 adults with high cholesterol that remains high despite standard therapy. Participants will receive either QLC7401 or a placebo, added to their current cholesterol medications. The main goal is to see if QLC7401 can s…

This study looks at whether extra education from a pharmacist can help people aged 18-60 who are starting a new antipsychotic medication for conditions like schizophrenia or bipolar disorder. The goal is to see if this support reduces weight gain and other metabolic side effects.…

This study follows 75 adults with Fabry disease who are taking or starting pegunigalsidase alfa to see how well it works and how safe it is over time in real-world settings. Researchers will check heart structure and function, kidney health, and exercise capacity. The goal is to …

This study tests whether a 9-month lifestyle coaching program (individual and group sessions with a dietician) helps obese male firefighters lose weight and improve metabolic health. Fifty participants will be randomly assigned to coaching or usual care. The main outcomes are cha…

This study tests a drug called cosibelimab in 80 people with advanced skin cancer who also have a kidney transplant or a blood cancer. The drug works by helping the immune system attack cancer cells. Researchers will check if the tumors shrink and monitor for side effects.

This early-stage trial tests a daily pill called APG-3288 in 180 adults with blood cancers like leukemia or lymphoma that have come back or not responded to standard treatments. The main goals are to find the safest dose and check for side effects. Researchers will also look for …

This study tests a new drug called ABBV-383 in 38 people with Waldenström macroglobulinemia that has come back or not responded to treatment. The drug is a monoclonal antibody designed to block cancer growth. The trial has two parts: first finding a safe dose, then checking how w…

This early study tests a drug called piclidenoson in 5 adult men with Lowe syndrome, a rare genetic disorder that harms the kidneys. The goal is to see if the drug can improve how the kidneys reabsorb important small proteins over 6 months. Researchers will also check safety and …

This study tests whether a 12-week program of supervised exercise, Mediterranean diet education, and stress management workshops can improve health in 120 overweight or obese adults. Participants will wear a smart bracelet to track activity and sleep. Researchers will measure cha…

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

This study tests whether giving immunotherapy drugs (nivolumab with or without ipilimumab) or immunotherapy plus radiotherapy before surgery can improve outcomes for people with a specific genetic type of colorectal cancer called MSI-H/dMMR. About 114 participants will be randoml…

This study tests whether a non-invasive brain stimulation technique called rTMS can reduce liver fat in people with alcohol-related fatty liver disease (MetALD). 105 participants will receive either personalized rTMS, standard rTMS, or a sham (placebo) treatment over 20 sessions.…

This study tests whether a new omega-3 supplement called Ruby-O, made from phospholipids, raises omega-3 levels in the blood more effectively than standard omega-3 supplements. About 105 adults with mixed dyslipidemia (abnormal blood fats) who are already on statin therapy will t…

This study tests a new injectable drug called DNV001 in about 120 adults with high cholesterol that isn't well controlled by statins. Participants will receive different doses of the drug or a placebo as a shot under the skin, while continuing their usual statin pills. The main g…

This study tests a community-based exercise program for people aged 50 and older who have at least two chronic conditions, such as heart disease, diabetes, arthritis, or obesity. The program is designed to improve muscle strength, heart and lung fitness, and overall well-being. R…

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

This early-phase study tests whether combining focused ultrasound with the immunotherapy drug pembrolizumab is safe and feasible for people with recurrent glioblastoma, a severe brain cancer. Only 8 participants with a specific genetic feature (mismatch repair deficiency) will be…

This study tests two immunotherapy drugs (iparomlimab and tuvonralimab) in 30 women with a specific type of endometrial cancer that is mismatch repair-deficient. The goal is to see if the treatment can make the cancer disappear or shrink enough to avoid surgery. Participants must…

This phase 2 trial tests two different drug combinations given before surgery for people with a specific type of stomach cancer (dMMR/MSI-H). Participants will receive the immunotherapy drug adebrelimab plus either chemotherapy or another immunotherapy drug (SHR-8068). The goal i…

This phase 4 trial tests whether adding recaticimab to vunakizumab works better than vunakizumab alone for adults with moderate-to-severe plaque psoriasis and high cholesterol. Forty participants will be randomly assigned to receive either the drug combo or vunakizumab plus a pla…

This study compares a high-intensity loading dose of vitamin D2 to standard weekly dosing in 52 patients with newly diagnosed aggressive non-Hodgkin lymphoma who are also receiving standard chemotherapy. The goal is to see if the high-dose approach normalizes vitamin D levels fas…

This Phase 2 trial tests the drug luspatercept (Reblozyl) in 45 people with rare inherited anemias that affect red blood cells. The goal is to see if it can reduce the need for blood transfusions in those who depend on them, or raise hemoglobin levels in those who don't. Particip…

This study tests whether a lower dose of the chemotherapy drug treosulfan, given before a stem cell transplant, can help people with Nijmegen breakage syndrome. The condition causes immune problems and a high risk of cancer. The trial will enroll 24 patients, giving a lower dose …

This early-phase trial tests a single injection of a gene therapy called GS1168 in 9 adults with PKU whose condition is not well controlled by diet or other treatments. The therapy uses a harmless virus to deliver a working copy of the PAH gene, which is faulty in PKU, to help th…

This phase 2 trial will test a combination of immunotherapy drugs and chemotherapy given before surgery for people with a specific genetic subtype of stomach cancer (dMMR/MSI-H). The study aims to see how well this approach clears the tumor and to understand why some patients do …

This study tests whether Yangxin Dawayimixike Honey Paste can reduce carotid artery plaque and improve cholesterol in people with dyslipidemia. Over 400 participants will receive either the honey paste or a placebo for 12 months, with a one-year follow-up. The main goal is to see…

This study tests whether an AI-powered app called 'Smart family doctor' can help people who have had heart surgery (bypass or stent) better control their blood pressure, blood sugar, and cholesterol. About 951 participants from 10-20 hospitals will use the app for personalized he…

This early study tests whether high-dose vitamin B3 (nicotinamide) can help preserve or improve vision in people with Leber's hereditary optic neuropathy (LHON), a rare genetic disease that causes sudden vision loss. Researchers will give 13 participants 2 grams of vitamin B3 dai…

This study tests a combination of targeted therapy (zanubrutinib) with a reduced-dose chemotherapy and an antibody drug for people newly diagnosed with Waldenström macroglobulinemia, a rare blood cancer. About 43 participants will receive four cycles of the combo, then eight mont…

This early-stage trial will test a new drug formulation (AD-117) for mixed dyslipidemia, a condition involving high cholesterol and triglycerides. Sixty healthy adults will receive a single dose of either the new or a reference formulation to compare how the body processes each. …

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

This study tests a combination of two oral drugs, zanubrutinib and BGB-11417, in adults with Waldenström macroglobulinemia who have already received at least one prior treatment. The goal is to see if the combination can shrink or control the cancer better than current options. P…

This study will test a new way to manage heart disease risk using a digital, nurse-led remote monitoring program. About 750 adults with heart conditions will use home devices and answer questionnaires. The goal is to see if this approach helps more patients reach their cholestero…

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

This early-stage trial tests a gene therapy called GC310 for Wilson's disease, a genetic condition that causes copper buildup in the body. Researchers will give a single dose to 15 adults and monitor them for a year to check safety and whether it improves copper levels. The goal …

This early-phase trial tests a three-drug combination (ibrutinib, bendamustine, and rituximab) given for a fixed duration in people with Waldenström macroglobulinemia, a rare blood cancer. The study has two parts: first, finding the safest dose of bendamustine, and then testing t…

This study tests whether taking fenugreek seed powder daily for 12 weeks can improve key signs of metabolic syndrome, such as waist size, blood pressure, cholesterol, and blood sugar. Researchers will compare fenugreek to a placebo in 28 adults aged 30 to 60 who have metabolic sy…

This phase III trial tests a vitamin B12 injection (hydroxocobalamin chloride) in 20 children aged 6 months to 18 years with a specific type of methylmalonic acidemia (cobalamin C deficiency). The goal is to see if the injection can normalize levels of certain acids in the blood …

This study tests a comprehensive management service package for older adults (65+) who have two or more chronic conditions like high blood pressure, diabetes, or arthritis. The package includes digital tools, personalized lifestyle advice, and long-term support. Researchers will …

This study aims to see if a new radioactive dye can detect early signs of a heart condition called amyloidosis in people who carry a TTR gene mutation but have no heart failure symptoms. About 80 adults aged 30-80 will receive an injection of the dye and then have a PET/CT scan t…

This study tests whether a computer model can find signs of a heart condition called cardiac amyloidosis in bone scans that were done for other reasons. Researchers will look back at 57 patients' scans to see if the model can correctly identify those with the disease. If it works…

This study will test a new device called PheCheck™ that measures phenylalanine levels from a single fingerstick drop of blood. About 60 people with PKU or hyperphenylalaninemia, aged 1 year and older, will use the test at home and compare results to standard lab testing. The goal…

This study tests a new, contactless camera technology that measures heart rate, blood pressure, and heart disease risk from a short video of your face. Researchers will compare these readings to standard medical tests in 300 adults aged 30 and older in Jakarta. If accurate, this …

This study tests whether a special PET-CT scan using a drug called evuzamitide can detect signs of cardiac amyloidosis in people whose standard heart scans were unclear but who have high levels of a blood marker called TAD1. About 25 adults with heart failure or a genetic risk fo…

This study will enroll 5000 adults to see if a one-minute, single-lead ECG, analyzed by machine learning, can detect heart conditions like high blood pressure, heart failure, and diabetes. Participants will have their ECG recorded twice and compared with full medical exams. The g…

This pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…

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

This study tests whether annual liquid biopsies (from blood, urine, stool, and vaginal swabs) can safely replace colonoscopies every 18 months for people with Lynch syndrome. 2,000 participants will be split into two groups: one gets standard care (colonoscopy every 18 months), t…

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

People with Fanconi anaemia have a high risk of developing oral cancer, but standard biopsies are painful and risky due to their genetic sensitivity. This study tests a non-invasive oral brushing technique to detect early cancer cells in 115 patients aged 15 and older. If accurat…

This study tests whether the BIND score, a quick neurological check, can predict brain risk in newborns with severe jaundice. Researchers will use the score to guide phototherapy treatment in 80 infants under 28 days old. The goal is to catch and treat dangerous jaundice early, p…

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

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

This study tests a community-based program to help Black and Hispanic teens aged 15-20 cope with chronic stress and prevent depression. Participants will join peer groups to learn skills and will be tracked for 2 years. The goal is to reduce depressive symptoms and improve physic…

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

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

This study compares two ways to break up kidney stones using a laser and a suction device. One method turns stones into dust, the other into small fragments. The goal is to see which leaves fewer stone pieces behind after one month. About 86 adults with small kidney stones will t…

This study tests a drug called N-acetyl-L-leucine for people aged 4 and older with CACNA1A gene disorders, which can cause coordination problems, dizziness, and migraines. About 60 participants will receive either the drug or a placebo, then switch, to see if it improves movement…

This study tests whether light physical activity after meals can improve blood sugar levels in adults with metabolic syndrome and prediabetes. Twenty-five participants will try three routines in random order: sitting, a 15-minute walk, or brief resistance exercises like squats ev…

This study looks at whether foot reflexology and body massage can help newborns with jaundice who are already receiving light therapy (phototherapy). Researchers will measure bilirubin levels, heart rate, breathing, and stress in 105 babies. The goal is to see if these gentle, dr…

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

This study tests a cream called roflumilast 0.15% for itching in people with mild to moderate atopic dermatitis (eczema). About 40 participants aged 12 and older will apply the cream once daily for 4 weeks. Researchers will track how patients describe their itch and other skin se…

This early-stage trial tests a new robotic surgical method for esophageal cancer that avoids cuts between the ribs, which may cause less chest pain and faster recovery. About 31 adults with stage I to III esophageal cancer will be randomly assigned to either the new approach or s…

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

This study follows 250 people with cystinosis, a rare genetic disorder that causes a buildup of the amino acid cystine, leading to damage in the kidneys, eyes, and other organs. Researchers will track how the disease progresses over time, including kidney function, eye problems, …

This study looks at how eating a high-fat or high-carb breakfast changes fat levels in the blood over 8 hours. Researchers will compare results among people with conditions like diabetes, fatty liver, or kidney disease, as well as healthy volunteers. Participants will have two ov…

This study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…

This study examines how a type of immune cell called gamma delta T cells adapt and function in critically ill patients, both with and without sepsis. Researchers will compare these cells in healthy people, non-septic ICU patients, and septic ICU patients. The goal is to understan…

This study investigates how pomegranate dietary supplements influence gut bacteria and inflammation in people with alcohol use disorder and alcohol-related liver disease. Researchers will measure levels of beneficial gut metabolites called urolithins and inflammatory markers in b…

This study surveys 1,000 adults with Restless Legs Syndrome (RLS) to find out how often pain is part of their symptoms and how it affects their daily lives. Participants fill out an online questionnaire about their medical history, sleep, pain, and quality of life. The goal is to…

This study tests a structured program to help 40 adolescents and young adults with congenital adrenal hyperplasia (CAH) move from pediatric to adult healthcare. Participants will learn about their condition, emergency preparedness, and self-management. The goal is to see if the p…

This study screens adults aged 18 and older in suburban and peri-urban areas of Faisalabad, Pakistan, for four major noncommunicable diseases: diabetes, hypertension, obesity, and high cholesterol. Participants who are found to have these conditions are referred to doctors for st…

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

This observational study monitors the long-term safety of eplontersen, a treatment for transthyretin amyloidosis, in patients who have had a liver transplant or have severe liver impairment. Researchers will track side effects, lab changes, and serious health events in about 320 …

This study will send different types of WhatsApp messages to 235,000 people in Chile who are due for cancer or chronic disease screenings. Researchers want to see if the way a message is worded (basic, risk-focused, or peace-of-mind) and whether it mentions one test or both tests…

This study compares two approaches to notify relatives of people diagnosed with familial hypercholesterolemia (FH), a genetic condition causing very high cholesterol. One method lets patients share information themselves; the other has the study team contact relatives directly. R…

This study looks at whether a tumor's DNA repair status (MMR) changes how well the presence of cancer cells in lymph vessels predicts spread to lymph nodes in stomach cancer. Researchers will review medical records of 3,000 patients who had surgery. The goal is to improve risk as…

This study looks at whether mindfulness-based stress reduction can help Black teenage girls who have been involved with the justice system and their parents or caregivers. About 90 participants will report on stress, PTSD symptoms, and other outcomes before and after the program.…

This study will test whether smelling a pleasant food odor (madeleine scent) before drinking a sugary solution changes how the body handles blood sugar. Twenty adults, some with obesity and mild insulin resistance and some without, will each undergo two sessions: one with the sce…

This study follows 45 adults with alpha-1 antitrypsin deficiency (a genetic condition that can cause liver damage) to learn how the disease progresses. Researchers will analyze stored blood and liver tissue samples to find biomarkers and understand the molecular pathways involved…

This study follows 40 adults who recently had laparoscopic sleeve gastrectomy for obesity. Over 6 months, researchers will measure changes in blood sugar, cholesterol, gut barrier markers, and digestive symptoms. The goal is to understand how the surgery affects gut health and me…

This study is a registry that will collect health information from 1,000 people who carry the gene for hereditary amyloidosis, including those with and without symptoms. Researchers will track who develops the disease and how it progresses, including the need for heart transplant…

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

This study looks at whether brown adipose tissue (brown fat), which burns energy as heat, can predict how well people with obesity respond to the weight loss drug semaglutide (Wegovy). Eighty adults starting semaglutide will have PET/CT scans before and after 24 weeks of treatmen…

This study uses the FreeStyle Libre 2, a small sensor worn on the arm, to track blood sugar changes in 120 people with rare forms of diabetes, including monogenic diabetes and hyperinsulinemia. Researchers will compare these patterns with data from healthy people and those with t…

This early-phase study looks at whether metabolic syndrome reduces brain blood flow more in women than in men. Researchers will use MRI scans and a drug called indomethacin to test this in 72 healthy adults and those with metabolic syndrome. The goal is to understand sex differen…

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

This study will follow about 2,500 adults in Italy who have high cholesterol and are at high risk for heart problems. Researchers want to see if their current treatments match official guidelines and how well their cholesterol is controlled over one year. The goal is to find gaps…

This study looks at how metabolic health (measured by a simple blood test) relates to artery stiffness and daily blood pressure changes in 800 adults. Researchers will use routine tests and non-invasive measurements to find better ways to identify people at higher risk for heart …

This study looks at how aging changes tiny parts of our cells called mitochondria, which produce energy. Researchers will take small skin samples and blood from 90 healthy adults aged 18-90 to measure inflammation and cell aging markers. The goal is to better understand why we ag…

This 5-year study will follow 2,800 overweight or obese Chinese adults aged 18-60 to see how their health changes over time. Participants will use a smartphone app to track their data and get lifestyle support. The goal is to understand who develops diabetes or complications, and…

This early-stage study will test a new experimental drug called AD-231 in 60 healthy adults. The goal is to see how safe the drug is and how the body processes it, not to treat any disease. Participants will receive a single dose of the drug and have their blood levels measured o…

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

This observational study in Mexico will follow 30 adults already taking tirzepatide for conditions like diabetes or obesity. Researchers will use MRI scans of the knees, CT scans of the heart, and body composition tests to see how the drug affects cartilage, heart fat, and overal…

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

This study looks for genetic differences that might explain a rare form of diabetes that is not caused by the immune system. Researchers will study 118 adults of African or Indian ancestry in the French West Indies who have this atypical diabetes. The goal is to find gene changes…

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

This study will interview 35 adults in Sweden who have Fabry disease but are not yet receiving treatment. The goal is to learn how they experience their quality of life, daily activities, and healthcare support. By listening to patients' own stories, researchers hope to identify …

This study will check if a routine blood measure called mean platelet volume (MPV) can predict acute coronary syndrome (heart attack or unstable angina) in people with metabolic dysfunction-associated steatotic liver disease (MASLD). Researchers will compare MPV levels between 60…

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

This study looks at how abnormal proteins, like alpha-synuclein and tau, build up and affect brain function in people with Parkinson's disease. Researchers will use brain scans, blood tests, and skin biopsies to track these changes. The goal is to find better ways to diagnose and…

This study will give fecal transplants to 90 people with recurrent C. difficile infection, ulcerative colitis, or metabolic syndrome. Researchers will use advanced tests on stool and tissue samples to track how donor bacteria settle in the gut and interact with the host. The goal…

This study will look at how consistently nearly 6,000 adults in Italy take three newer cholesterol-lowering drugs (inclisiran, evolocumab, and alirocumab) over the long term. Researchers will analyze prescription records to measure adherence and persistence in everyday medical pr…

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

This study looks at whether metabolic syndrome (a cluster of conditions like high blood pressure and excess belly fat) makes it harder to recover from a rotator cuff injury. Forty adults with rotator cuff tears will be split into two groups—those with and without metabolic syndro…

This pilot study will test whether a daily 30-minute Tao Calligraphy mindfulness practice can increase mitochondrial DNA content in blood cells over 12 months. Fifty healthy or ill adults (excluding those with genetic diseases, cancer, or serious mental disorders) will provide bl…

This observational study will test whether a 1-3 minute AI-powered facial scan can accurately measure vital signs like heart rate and blood pressure, as well as estimate blood sugar, cholesterol, and mental health status. Researchers will compare the scan results with standard me…

This study looks at how the amount and type of carbohydrates in your diet affect blood sugar, fats, and gut health. Twenty adults with or at risk for metabolic syndrome will eat four different carb diets in a random order. The goal is to understand which carb patterns are best fo…

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

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

This survey will ask about 60 people—patients with Gaucher disease, their caregivers, and home infusion nurses—how well they understand and use educational materials for at-home VPRIV infusions. The materials include an infusion diary, a guide, and an emergency plan. The goal is …

This study works with 35 primary care clinics to help them screen patients for physical inactivity and refer them to community-based exercise programs. The goal is to see if this approach can be smoothly integrated into routine care and whether it leads to better health outcomes …

This study will survey 200 adults with Fabry disease to understand how men and women experience different paths to diagnosis. Researchers want to see if symptoms or family screening lead to diagnosis more often in one sex, and how long diagnosis takes. The goal is to identify pat…

This study will look at medical records from 3,600 people in Japan to see how well they follow their prescribed cholesterol-lowering medication. It compares two drugs, inclisiran and evolocumab, over 12 months. The goal is to understand real-world adherence, not to test new treat…

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

This study will check if a specific cholesterol ratio (non-HDL to HDL) is linked to kidney disease in people with diabetes. Researchers will measure this ratio and kidney function in 84 adults. The goal is to better understand risk factors, not to test a new treatment.

This study will find the correct dose of sugammadex, a drug that reverses muscle relaxants, for infants under 2 years old. About 99 babies having non-emergency surgery will receive small, increasing doses until their muscle function returns. The goal is to ensure safe and complet…

This study will compare how vegan, omnivorous, and carnivore diets affect the way LDL cholesterol particles clump together in the blood, which can lead to artery plaque. Researchers will measure blood lipids and other health markers in 90 adults aged 25-60 who have followed their…

This study will compare a carnivore diet (only animal foods) with a Mediterranean diet (fruits, veggies, grains, legumes) in 30 adults aged 30-60 with high LDL cholesterol. Over 3 weeks, researchers will measure how each diet affects cholesterol clumping, blood fats, and blood ve…

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

This observational study looks at whether eating a diet that causes inflammation can make gum disease worse in people with metabolic syndrome. About 100 adults with metabolic syndrome will have their gum health checked and their diet analyzed using a special inflammation score. T…

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

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

This study will test a new computer program designed to help doctors make better decisions for patients with high cholesterol and heart disease. Researchers will review the medical records of 500 adults and compare the program's recommendations to what doctors actually prescribed…

This study follows up to 30 children (up to age 16) with a rare genetic condition called methylmalonic acidemia (MMA), which affects how the body processes food. The goal is to observe how the disease progresses over time by tracking specific blood tests and health signs. This in…

This study aims to find out whether some women diagnosed with polycystic ovary syndrome (PCOS) actually have a rare genetic condition causing severe insulin resistance. Researchers will compare 25 women with a known LMNA gene mutation (linked to lipodystrophy) to 50 women with cl…

This study looks at how blood phenylalanine (Phe) levels affect thinking, emotions, and daily functioning in adults with PKU. Researchers will ask 30 adults with PKU and their relatives to complete questionnaires. The goal is to understand why some people with high Phe levels hav…

This study looks at how mental state, emotional eating, and sleep quality together influence the risk of metabolic syndrome (a cluster of conditions like high blood pressure and blood sugar) in people with schizophrenia or bipolar disorder. Researchers will measure these factors …

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

This study tests a new DNA sequencing method that reads long stretches of DNA to find hidden genetic changes causing rare diseases like albinism and intellectual disability. Researchers will analyze stored blood or DNA from 150 patients who haven't gotten a clear diagnosis yet. T…

This study looks at how the cholesterol-lowering drug rosuvastatin affects fitness and muscle symptoms in people who run long distances at least three times a week. Researchers will compare runners taking rosuvastatin to those not taking it over three months, measuring changes in…

This study looks at how artificial sweeteners (saccharin, sucralose) and a natural one (erythritol) affect blood sugar control, blood clotting, and heart disease risk in 80 adults with prediabetes. Participants will be randomly assigned to take one sweetener or water for two week…

This study looks at a condition called 'metabolically obese normal weight' (MONW), where people have a healthy BMI but too much body fat, raising their risk for heart problems and diabetes. Researchers will study 176 young women with normal weight, measuring body fat, blood marke…

This study will follow 500 Beijing residents aged 60 and older to see how urinary function (like bladder and kidney health) relates to the development of multiple chronic conditions such as diabetes, heart disease, and Alzheimer's. Participants will have regular health checks, bl…

This study will test a special PET scan tracer and blood tests to better understand and predict heart damage in people with Fabry disease. Researchers will look at heart tissue samples and blood markers from 20 adult patients. The goal is to find new ways to diagnose and forecast…

This study looks at how metabolic syndrome (a cluster of conditions like high blood pressure and blood sugar) might make gum disease worse. Researchers will measure gum inflammation in 100 adults and compare it to their metabolic health. The goal is to see if a simple gum measure…

This study will screen up to 10,000 adults aged 18-75 who are overweight or have metabolic issues like high blood sugar or cholesterol. Researchers will use questionnaires, blood tests, and liver ultrasounds to find out how common fatty liver disease is and what factors increase …

This study follows 30 people with achalasia (a swallowing disorder) for one year after their treatment. Researchers want to see if the weight gain that often happens after treatment leads to worse metabolic health, like fatty liver or higher blood sugar. Participants will have bl…

This study aims to find out how often a rare genetic condition called alpha-1 antitrypsin deficiency (AATD) occurs in people who develop liver cancer (hepatocellular carcinoma) but do not have cirrhosis or other known causes like hepatitis or heavy drinking. Researchers will look…

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

This study looks at how energy production inside cells (mitochondria) works in people with cystinosis, a rare disease that causes cystine buildup and early aging. Researchers will measure cell energy activity in 25 patients and compare it to healthy people. The goal is to underst…

This study will check if a standard jaundice test (a light meter on the skin) works equally well for newborns of all skin colors. About 510 babies will have their skin color classified and their jaundice levels measured both with the meter and a blood test. The goal is to see if …

This study will examine how metabolic syndrome—a cluster of conditions like high blood pressure, high blood sugar, and excess belly fat—relates to gastroesophageal reflux disease (GERD). Researchers will enroll 50 adults with metabolic syndrome and use an endoscopy to check for s…

This pilot study will test a tablet-based tool called TICOALA that checks language comprehension and learning in children aged 3 to 7 who visit a child psychiatry service in Paris. Researchers want to see if children, parents, and clinicians find the tool acceptable and if a larg…

This study looks at how often kidney problems occur in people with Wilson's disease, a rare genetic condition that causes copper buildup. Researchers will check 150 patients aged 7 and older for signs of kidney damage, including chronic kidney disease, tubule issues, and calcium …

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

This study will look at 225 adults with diabetic retinopathy to find out how many also develop an epiretinal membrane — a thin, scar-like layer on the retina that can blur vision. Researchers will use eye scans to detect the membrane and check for related factors like age, diabet…

This study looks at the real-life challenges faced by people with Wilson's disease in Upper Egypt, a rare condition where copper builds up in the body. Researchers will survey 66 patients and their caregivers about diet, knowledge, attitudes, and barriers to care. The goal is to …

This study will check for hormone problems in 30 children with Wilson's disease, aged 3 to 18. Researchers will look at how the pituitary, thyroid, adrenal, and sex glands are working. The goal is to find out how common these issues are and what types occur, which could help impr…

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

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

This study compares levels of oxidized LDL (a type of 'bad' cholesterol linked to heart disease) in the gum fluid of people with advanced gum disease versus those with healthy gums. Researchers aim to better understand the connection between gum inflammation and heart health. The…

This study will follow 175 children and young adults who had a bone marrow transplant before age 18. Researchers will test their thinking, memory, and attention skills, and check for links to physical health issues like metabolism and fitness. The goal is to find early warning si…