Inborn disorder of amino acid and other organic acid metabolism

This early-stage trial tests a single intravenous infusion of NGGT002, a gene therapy designed to deliver a working copy of the PAH gene to adults with classic phenylketonuria (PKU). The goal is to see if this approach can safely lower phenylalanine levels in the blood, which cou…

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…

Researchers are testing whether measuring phenylalanine at home once a week, rather than once a month, helps adults with classic phenylketonuria keep their levels in a healthier range. The trial enrolls 36 adults aged 18 to 65 who follow a low-protein diet and use special amino a…

This study tests a gene therapy for GM1 gangliosidosis, a fatal disorder that destroys nerve cells. The therapy uses a harmless virus to deliver a working gene, helping the body produce a missing enzyme. Up to 54 children with Type I (ages 6-12 months) or Type II (ages 1-12 years…

This trial tests a procedure to remove and freeze ovarian tissue from pre-pubertal children who face cancer treatments that may harm their fertility. The goal is to store the tissue so it can be used later to restore fertility and hormone function. Researchers will follow partici…

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 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 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 early-stage trial tests a gene therapy for propionic acidemia, a rare genetic disorder that causes dangerous metabolic crises and organ damage. The study will enroll 9 children aged 6 months to 2 years with confirmed PCCA gene mutations. The therapy uses a harmless virus to …

This study tests an experimental oral drug called MZE782 in adults with phenylketonuria (PKU), a genetic disorder that prevents the body from breaking down an amino acid called phenylalanine (Phe). High Phe levels can cause brain damage. The trial compares two doses of MZE782 aga…

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 tests a one-time gene therapy called ECUR-506 in baby boys under 9 months old with a severe form of OTC deficiency, a genetic disorder that prevents the body from breaking down ammonia. The goal is to see if the treatment is safe and can reduce dangerous ammonia levels…

This trial tests whether pegtibatinase, a lab-made version of the CBS enzyme, can safely lower homocysteine levels in people with classical homocystinuria (HCU), a rare genetic condition that causes harmful buildup of homocysteine and methionine. The study includes children and a…

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 Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

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 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 early-stage trial tests a single dose of an experimental oral drug called GenSci144 in healthy adults. The drug aims to block a transporter in the gut to reduce phenylalanine levels, which could help manage phenylketonuria (PKU). The study focuses on safety and how the body …

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 tests a single dose of TSHA-105, a gene therapy injected into the spinal fluid, in 8 people aged 2 to 20 with SLC13A5 citrate transporter disorder. The goal is to see if it is safe and whether it can improve motor and thinking skills. Because the trial is v…

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 early-stage trial tests a one-time gene therapy called VGM-R02b in up to 12 children aged 6 years or younger with Glutaric Acidemia Type I, a rare genetic disorder that can cause brain damage. The study aims to see if the treatment is safe and can improve symptoms like movem…

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 study is testing a drug called glycerol phenylbutyrate in 40 Chinese children with urea cycle disorders, a rare genetic condition that causes dangerous ammonia buildup. The drug aims to help control ammonia levels over 5 years. Researchers will monitor safety and effectivene…

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 looks at the long-term safety of an experimental medicine called mRNA-3927 for people with propionic acidemia, a rare genetic disorder that prevents the body from breaking down certain proteins and fats. About 50 participants who were in an earlier study will continue …

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 trial tests whether a patient's own immune cells, engineered to target BCMA and/or CD19, can calm severe ulcerative colitis that hasn't responded to other treatments. Twelve adults with moderate-to-severe active disease will receive a single infusion of these CAR…

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 tests an experimental mRNA therapy called mRNA-3927 for propionic acidemia, a rare genetic disorder that causes dangerous metabolic crises. The trial involves about 77 participants of all ages, starting with older children and adults. Researchers will check safety, fin…

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 tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This study is testing the long-term safety of an mRNA therapy called mRNA-3705 in people with methylmalonic acidemia (MMA), a rare genetic disorder that prevents the body from breaking down certain proteins and fats. Participants have already been in earlier studies of this drug.…

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 study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This study is testing whether a special PET/CT scan using an amino acid tracer can better detect tumors in people with amino acid transport disorders, primary hyperparathyroidism, or glioma. About 500 adults will receive a single injection of the tracer and then get scanned. The …

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 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 is testing a new way to measure how well the urea cycle works in healthy people and in patients with urea cycle disorders (UCDs). Participants receive a safe, non-radioactive tracer, and blood samples are taken over a few hours. The goal is to develop a better tool for…

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 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 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 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 study follows people with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) over time to learn how the condition progresses and affects daily life. Researchers will collect health data and patient feedback to identify patterns and potential markers of the disease. The goal i…

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 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 aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin/eye color, bleeding problems, and often deadly lung scarring. Researchers will follow 600 people with HPS and their family members to track how the disease progres…

This study follows people with propionic acidemia (PA), a rare metabolic disorder, to track how the disease affects the body over time. Researchers will collect medical history, blood, urine, and other samples, and perform imaging and heart tests during annual hospital visits. Th…

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 follows people who received an investigational gene therapy in an earlier iECURE trial for a urea cycle disorder, a condition that can cause dangerous ammonia buildup. Researchers will track safety, side effects, and whether the therapy's effects last over up to 14.5 y…

This study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…

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 aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

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 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 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 the body processes repinatrabit (JNT-517), an oral tablet for phenylketonuria, in people with moderate liver impairment or severe kidney impairment. It compares these results to those from healthy volunteers of similar age, weight, and sex. The goal is to …

This study follows people with rare inherited forms of kidney stones and chronic kidney disease, such as primary hyperoxaluria, cystinuria, and Dent disease, to learn how these conditions develop over time. Researchers will measure markers of inflammation in blood and urine and t…

This study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …

This study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…

This study uses a brain imaging technique called functional near-infrared spectroscopy (fNIRS) to observe brain activity in people with urea cycle disorder (UCD) while they perform driving tasks of varying difficulty. Researchers compare these brain patterns to those of healthy v…

This observational study examines how a phenylalanine-restricted diet and PKU medications like sapropterin influence the gut microbiome in children aged 3-17. Researchers will compare stool samples from children with PKU and their healthy siblings to see if diet or drugs alter gu…

This study investigates whether a person's glycolytic power — how efficiently their body uses sugar for quick energy — can predict muscle growth from resistance training. Healthy adults who have not done structured weight lifting in the past year will take a 10-second all-out cyc…

This study creates a biobank of blood, urine, and tissue samples from people with rare kidney stone diseases—primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease—and their family members. By storing these samples, researchers hope to enable future studies that cou…

This study investigates whether people with phenylketonuria (PKU) are more likely to develop eating disorders and obesity due to their restrictive, high-carbohydrate diet. Researchers will examine 70 PKU patients to understand the link between diet, eating behaviors, and weight. …

This study collects medical information from people around the world who have one of four rare hereditary kidney stone diseases: primary hyperoxaluria, Dent disease, cystinuria, or APRT deficiency. By gathering data from many patients, researchers hope to better understand how th…

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 collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

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 whether people with certain rare metabolic disorders that cause high ammonia levels will measure their ammonia at home every day. About 30 participants will use a special device to check their ammonia, along with temperature, heart rate, and blood oxygen. They…

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 uses a quick, painless eye scan (OCT) to see if blood vessels in the eye look different in people with high blood pressure or chronic kidney disease compared to healthy people. Researchers want to learn if these differences improve with treatment. About 150 adults aged…

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 study looks at the safety of a special blood test system used to measure arginine levels in people with ARG1 deficiency who are taking the drug Loargys. The test system includes special blood collection tubes that stop the drug from breaking down arginine after the sample is…

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 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 aims to find the specific genes and mutations that cause rare, inherited forms of kidney stone disease. Researchers will analyze DNA from up to 6,000 participants to understand how these genetic changes lead to stones. The goal is to use this knowledge to develop bette…

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 two short-chain fatty acids, propionate and butyrate, affect metabolism in 10 healthy adults. Participants will take each fatty acid on separate visits, and researchers will measure changes in ketone bodies, glucose, and other markers. The goal is to under…

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 aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …

This study is not testing any new drug or treatment. Instead, researchers will look back at medical records of 60 people with propionic acidemia, a rare genetic disorder that affects how the body breaks down certain proteins and fats. The goal is to better understand the disease,…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

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…

This study investigates whether serotonin, a chemical in the body, affects symptoms of oculocutaneous albinism in children. Researchers will measure serotonin levels in 160 children with and without albinism. The goal is to better understand the condition, not to test a new treat…