Disorder of organic acid metabolism

This early-stage trial tests an experimental drug called PL54 in adults aged 18 to 55 with phenylketonuria (PKU), a genetic disorder that prevents the body from breaking down the amino acid phenylalanine. PL54 is an enzyme designed to help lower high blood phenylalanine levels, w…

This early-stage trial is testing a new drug called AG-181 in 20 adults with phenylketonuria (PKU), a genetic condition that makes it hard to break down an amino acid called phenylalanine. The main goal is to check if the drug is safe and tolerable. Researchers will also measure …

This study tests whether sepiapterin, a powder taken daily, can preserve intelligence and quality of life in children with phenylketonuria (PKU) when started early in childhood. The trial will follow 56 children for years, measuring IQ and other outcomes. It is an open-label phas…

This study tests whether adding methotrexate (a drug that calms the immune system) can help adults with PKU tolerate and respond better to Palynziq, a protein-based treatment. About 12 adults who either haven't taken Palynziq before or have high blood Phe levels despite treatment…

This study tests whether sodium phenylbutyrate (ACER-001), a drug already approved for another condition, can help people with MCAD deficiency caused by a specific gene mutation. About 24 participants aged 4 and older will take the drug and be monitored for safety and how well it…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study tests whether a high-dose probiotic (De Simone formulation) can lower bile acid levels in stool and improve diarrhea in people with bile acid malabsorption. Twenty-four adults will take the probiotic or a placebo for about three weeks. Researchers will measure changes …

This Phase 3 trial tests pegtibatinase, an enzyme given as a shot, in 70 people aged 12–65 with classical homocystinuria. The goal is to see if it safely lowers high homocysteine levels when added to standard care. Participants receive either the drug or a placebo for 24 weeks.

This study tests an experimental oral drug, JNT-517, for adults with phenylketonuria (PKU), a genetic condition that causes harmful buildup of phenylalanine (Phe). About 120 adults will receive either JNT-517 or a placebo for 6 weeks, then all will receive JNT-517 for nearly a ye…

This Phase 3 study is testing the long-term safety of an oral drug called JNT-517 in 240 children and adults with phenylketonuria (PKU). All participants will receive the drug twice daily, with doses based on age and weight. The goal is to see if JNT-517 is safe to use over time …

This study tests a new drug called dorzagliatin in 44 adults with a rare, inherited form of diabetes (GCK-MODY). The drug works by activating a key enzyme to help the body better control blood sugar. Participants will receive both the drug and a placebo at different times to see …

This program provides expanded access to triheptanoin for people with long-chain fatty acid oxidation disorders (LC-FAOD) who have few treatment options and cannot join a clinical trial. The goal is to help manage the disease by providing an alternative energy source for the body…

This study tests whether a drug called glycerol phenylbutyrate (RAVICTI®) can reduce fatigue and improve daily life for people with pyruvate dehydrogenase (PDH) deficiency, a rare genetic condition that affects energy production. About 15 children and young adults (ages 2 to 25) …

This 10-year study will follow 200 people with PKU who are taking or about to start Pegvaliase (Palynziq). Researchers will monitor immune reactions, inflammation, and lab results to better understand long-term safety. The goal is to improve management of side effects like allerg…

This 10-year observational study is following 450 people with PKU who are taking or starting pegvaliase (Palynziq) to monitor long-term safety, especially allergic reactions. Researchers are tracking serious side effects like anaphylaxis, severe joint pain, and low phenylalanine …

This study tests whether a phenylalanine-free diet, similar to that used for a rare genetic condition, can safely lower high blood phenylalanine levels in critically ill adults in the ICU. High phenylalanine in these patients is linked to a higher risk of death and brain problems…

This early-phase study tests a single IV dose of NGGT002 gene therapy in 15 adults with phenylketonuria (PKU), a genetic disorder that causes harmful buildup of phenylalanine. The main goal is to check safety over one year, with long-term follow-up for five years. Researchers wil…

This early study is testing a drug called triheptanoin (Dojolvi) in children with pyruvate dehydrogenase complex (PDC) deficiency, a rare genetic condition that affects energy production. The trial will enroll 6 children aged 1 to 18 and look at safety, side effects, and changes …

This study looks at whether giving vitamin C alongside standard hospital care can help children under five with severe pneumonia recover faster. Ninety children will be split into two groups: one gets standard treatment alone, the other gets standard treatment plus a daily dose o…

This early-phase trial tests a single injection of JWK010 gene therapy in 18 children aged 5 to 12 with oculocutaneous albinism type 1 (OCA1). OCA1 is caused by a gene change that prevents the body from making pigment, leading to vision problems and light sensitivity. The therapy…

This study is testing four new powdered protein substitutes made from a milk protein called GMP for people with PKU and tyrosinemia. These conditions require a special low-protein diet, and current formulas can be hard to tolerate. Over 29 days, researchers will check how well 40…

This study tests liraglutide, a drug used for type 2 diabetes, in 50 adults with MODY, a rare genetic form of diabetes. The goal is to see if it improves blood sugar control and reduces stomach issues like nausea. Researchers will also study participants' cells to understand why …

This early-stage trial tests a gene therapy called NGGT002 for adults with classic PKU, a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The treatment delivers a working copy of the missing gene via a single IV infusion. Researchers will mon…

This study is testing whether a non-invasive brain imaging technique called fNIRS can reliably measure brain function in people with Fragile X syndrome or Creatine Transporter Deficiency. Researchers will use a cartoon-based visual stimulus to record brain activity and compare it…

This study tests if injecting vitamin C and glutathione into dark gums can lighten them as well as surgery. About 30 adults with gum pigmentation will be randomly assigned to either injection or scalpel removal. The main goal is to see how much the color improves, and the study a…

This study tests whether taking L-carnitine, a natural substance that helps turn fat into energy, can improve symptoms and quality of life in people with heart failure and kidney problems. About 20 adults will take the supplement for a short time while researchers monitor side ef…

This study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …

This study tests a virtual peer support program for people with type 1 diabetes and their loved ones across Canada. Participants join small online meetings and larger webinars to share experiences and reduce diabetes distress. The program is designed by researchers who also live …

This study tests a short-term behavioral program called Show Me FIRST to help teens with PKU manage anxiety and depression. Thirty adolescents will be randomly assigned to receive the program right away or after a wait period. The researchers will also check if new phone-based te…

This study tests whether atorvastatin, a drug typically used for cholesterol, can reduce bile acid production and improve symptoms in people with bile acid diarrhoea (BAD). Twenty adults with moderate-to-severe BAD will receive atorvastatin and a placebo in random order, each for…

This study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is giv…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study looks at how parents and doctors handle the moment a newborn is diagnosed with phenylketonuria (PKU) through routine screening. Researchers will interview 80 parents and medical staff to understand the emotional impact and find ways to improve how the diagnosis is shar…

This study aims to learn more about alkaptonuria, a rare genetic disease that causes a pigment to build up in bones and tissues, leading to arthritis and other problems. Researchers will evaluate 300 patients over several years using advanced medical tests. The goal is to better …

This study looks at facial features of males aged 2 to 40 with creatine transporter deficiency (CTD), a genetic disorder that causes intellectual disability, seizures, and behavioral issues. Researchers will examine photos of participants to see if they share common facial traits…

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study looks at people with creatine transporter deficiency, a rare genetic condition that causes intellectual disability, seizures, and movement problems. Researchers want to find the best tests to measure symptoms, since many standard tests are too hard for these patients. …

This study looks at how a supplement called nicotinamide riboside (NR) and a low-carb, high-fat 'ketogenic' diet affect the way the body burns fat and uses energy. Researchers will measure changes in metabolism in 100 overweight or obese adults. Participants will eat a standard d…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study looks at how much protein adults with PKU need, based on their specific genetic mutation and the special medical foods they eat. Researchers will measure how the body processes a harmless tracer to find the right protein levels. The goal is to improve dietary recommend…

This study looks at whether a special camp that teaches teens and young women with PKU or MSUD about their condition and nutrition can improve their pregnancy outcomes and quality of life. Researchers will compare the results of women who attended the camp to those who did not. T…

This early-stage trial is testing how the experimental drug repinatrabit interacts with several common medications, including birth control pills, metformin, and methotrexate. The study involves 48 healthy volunteers and will measure drug levels in the blood to see if combining t…

This study looks at how genes and body chemistry are linked in adults with phenylketonuria (PKU) who were treated early in life. Researchers will analyze blood and saliva samples from 149 participants to find patterns that may explain differences in health and thinking skills. No…

This study looks at whether giving mothers in Brazil an extra $40 per month (compared to just $2) can protect their children's brain development and mental health. About 450 children aged 7-10 from low-income families will be followed for 2 years. Researchers will measure stress,…

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

This study aims to find genetic mutations that cause spontaneous coronary artery dissection (SCAD), a condition where arteries in the heart tear without warning. Researchers will analyze DNA from 2000 people diagnosed with SCAD, as well as their relatives. The goal is to identify…

This study is creating a large digital registry to find and understand rare forms of diabetes caused by a single gene (monogenic diabetes). Researchers will enroll up to 5,000 people in China who were diagnosed with diabetes at a young age and test their DNA. The goal is to learn…

This study is checking whether people newly diagnosed with high blood pressure who also have high homocysteine levels are more likely to have early signs of heart stiffness. Researchers will measure homocysteine in blood and use ultrasound to look at heart function in 500 adults.…

This study follows 50 pregnant women with phenylketonuria (PKU) who have taken the drug Palynziq (pegvaliase) around the time of pregnancy or while breastfeeding. Researchers will track pregnancy outcomes and infant health, including birth defects and development. The goal is to …

This study follows 36 people with type 1 diabetes who have received a pancreatic islet transplant. Researchers will use continuous glucose monitors to see if a measure called 'Time in Tight Range' can detect early loss of graft function. The goal is to find a simple way to spot p…

This study takes a small sample of skin, blood, or urine from people with diabetes and healthy volunteers. Scientists will turn those cells into stem cells and then into insulin-producing cells in the lab. The goal is to learn more about diabetes and pave the way for future cell-…

This study follows 180 children in Italy born with biotinidase deficiency, a rare condition that can cause skin, eye, and nerve problems if untreated. Researchers will compare each child's genetic makeup with their enzyme activity levels and health outcomes. The goal is to better…

This study looks at how medium-chain and long-chain fatty acids affect metabolism in people with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and healthy individuals. Researchers will measure ketone bodies, resting metabolic rate, and other factors after participants co…

This study looks at how the drug bulevirtide changes gut bacteria and bile acids in people with hepatitis delta (a serious liver infection). Researchers will follow 20 patients for 48 weeks, collecting stool and blood samples to see how these changes relate to liver health. The g…

This study is collecting information from children and adults with pyruvate dehydrogenase complex deficiency (PDCD), a rare genetic disorder that affects energy production in cells. Researchers will review medical records, ask participants about their health history, and perform …

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study is creating a large registry of people who have had a spontaneous coronary artery dissection (SCAD), a type of heart attack. Researchers will collect medical history and follow participants over time to learn more about risk factors, treatments, and long-term outcomes.…

This study follows 45 people with PKU who are taking Palynziq to see how the drug changes their diet, brain health, and nutrition. Researchers will track protein intake and blood levels over time. The goal is to understand the full impact of Palynziq beyond just lowering phenylal…

This study from Aarhus University is looking at how common magnesium deficiency is in people with Crohn's disease, ulcerative colitis, ileostomy, or bile acid diarrhea. Magnesium is important for muscles, nerves, and heart health, but standard blood tests may miss a deficiency. T…

This study tracks up to 55 people with SSADH deficiency, a rare genetic disorder that affects brain function. Researchers will measure symptoms, brain activity, and chemical levels in the body over time to see how the disease changes with age. The goal is to find markers that pre…

This study is following 300 people in Norway who have had a spontaneous coronary artery dissection (SCAD), a rare cause of heart attacks, especially in women. Researchers will use scans, blood tests, and questionnaires to track their health for one year. The goal is to better und…

This study tracks 200 people with ultra-rare glycogen storage diseases (GSDs) like types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will collect medical records and other data to see how these conditions progress over time. No treatments or dru…

This early-phase study looks at whether reducing high insulin levels (common in type 1 diabetes) with an SGLT2 inhibitor can improve heart and blood sugar health. Researchers will compare people with type 1 diabetes, those with a mild genetic diabetes (GCK-MODY), and healthy volu…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…