Inherited lipid metabolism disorder

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

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

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

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

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

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

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

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

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

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

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

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

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

This Phase 3 trial tested 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 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 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 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 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 drug called inclisiran in teenagers aged 12 to 18 who have a rare inherited condition that causes extremely high cholesterol. The goal was to see if the drug safely lowers their LDL (bad) cholesterol. Participants received either inclisiran or a placebo for on…

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

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

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

This study tested a new extended-release form of pemafibrate (K-877) in 121 adults with high triglycerides, a type of fat in the blood. Participants took the drug once daily for 52 weeks, either in the morning or evening, to see if it safely lowers triglyceride levels and improve…

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

This early-stage study tested a new drug called AZD0780 in 81 healthy adults with high cholesterol. Participants received AZD0780 alongside other cholesterol-lowering medicines like ezetimibe, rosuvastatin, or bempedoic acid. The goal was to see how well the combination lowers LD…

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

This study tested a one-time gene therapy for children with a rare, severe brain disease called variant late infantile Batten disease. The treatment delivers a working CLN6 gene into the spinal fluid to help slow the loss of motor and language skills. The trial included 13 childr…

This phase 2 trial tested a new drug called SPR001 in 24 adults with classic congenital adrenal hyperplasia (CAH), a genetic condition that disrupts hormone production. The study aimed to see if SPR001 is safe and can improve hormone control. Participants took multiple doses of t…

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

This study tested a new controlled-release version of the drug pemafibrate in 60 adults with dyslipidemia (abnormal levels of fats in the blood). The goal was to see if the new version works as well or better than the current immediate-release tablet, with fewer side effects. Par…

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

This study looked at whether an 8-week 5:2 intermittent fasting diet could help people with fatty liver disease. Eighty adults with excess liver fat followed the diet, eating normally for 5 days and restricting calories to 500 kcal on 2 non-consecutive days each week. Researchers…

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

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

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

This large Phase 3 trial tested an experimental oral drug called enlicitide decanoate (MK-0616) in nearly 3,000 adults with high cholesterol, including those with a genetic form. The goal was to see if the drug safely lowers 'bad' LDL cholesterol more than a placebo over 24 weeks…

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

This early-phase study tested a single dose of VSA003 in 36 healthy Chinese adults to see if it is safe and how the body handles it. The drug aims to help control high cholesterol and triglycerides. Participants received either VSA003 or a placebo, and researchers monitored for s…

This study tested the safety and effectiveness of Fabrazyme (agalsidase beta) in 22 Chinese patients with Fabry disease, a rare genetic disorder. Participants received enzyme replacement therapy through IV infusions over 54 weeks. The study monitored side effects and changes in d…

This study tested whether a mobile game could help children aged 11-14 with chronic kidney failure better manage their condition. 68 children were split into two groups: one used the game, the other received standard education. Researchers measured changes in BMI, blood pressure,…

This study tested the drug miglustat in 6 adults aged 17 and older with CLN3 Batten disease, a rare genetic disorder that causes nerve damage. The goal was to see if the drug is safe and to find the best dose over 2 years. Researchers tracked side effects and how the drug moved t…

This phase 2 trial tested an investigational drug called SHR-1918 in 26 people with homozygous familial hypercholesterolemia (HoFH), a rare genetic condition causing extremely high cholesterol. The study measured how much the drug lowered LDL (bad) cholesterol after 12 weeks. All…

This completed Phase 3 trial tested a combination of two drugs, JW0108 and C2407, in 145 adults with high cholesterol (dyslipidemia). The goal was to see if the combo lowers LDL ('bad') cholesterol more effectively and safely than placebo. Researchers measured changes in LDL leve…

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

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

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

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

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

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

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

This 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 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 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 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 looked at whether children with year-round allergic rhinitis can use a nasal steroid spray only when symptoms bother them, instead of every day. Sixty-eight children aged 6 to 18 were randomly assigned to either daily use or as-needed use of fluticasone furoate spray. …

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

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

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

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

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

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

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

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

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

This study followed 31 children with infantile or juvenile GM1 gangliosidosis, a rare and severe genetic disorder, for up to 3 years. Researchers collected data from exams, blood tests, and developmental assessments to better understand how the disease progresses. The goal was to…

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

This study tested whether a personalized lifestyle program could be run in a family medicine clinic for people with insulin resistance and related conditions like obesity, diabetes, and high blood pressure. Forty participants were randomly assigned to start with either nutrition …

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

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

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

This pilot study tested a quality improvement process called CUSP to help community mental health staff deliver better care for cardiovascular risk factors like high blood pressure, diabetes, and high cholesterol. The study included 85 staff and patients from psychiatric rehabili…

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

This early-stage study gave a single dose of the experimental drug venglustat to 6 healthy men to see how it is processed and eliminated from the body. Researchers measured radioactivity in urine, feces, and blood to map the drug's breakdown and excretion. The goal was to underst…

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

This completed study tested whether a generic bempedoic acid tablet works the same as the brand-name drug Nilemdo in 32 healthy adults. Participants took a single dose of each under fasting conditions, and researchers measured drug levels in the blood. The goal was to see if the …

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