Disorder of organic acid metabolism

This study tests a drug called triheptanoin, already approved for similar conditions, to see if it can prevent dangerously low blood sugar in people with MCADD, a rare inherited disorder. About 24 participants aged 4 and older will take the medication and be monitored for safety …

This phase 3 trial tests the drug mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic disorder that causes red blood cells to break down too quickly. These children need regular blood transfusions. The study compares mitapivat to a placebo to see if…

This phase 3 study tests a drug called PTC923 (sepiapterin) in 200 people with phenylketonuria (PKU), a genetic condition that requires a strict low-protein diet. The main goal is to see if the drug is safe over the long term and whether it allows people to eat more protein witho…

This study offers continued access to the drug mitapivat for adults with pyruvate kinase deficiency who completed an earlier Agios-sponsored trial and cannot get the drug commercially. Only 6 participants are enrolled, and the main goal is to monitor side effects. The study does …

This study tests a drug called mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The trial compares mitapivat to a placebo to see if it can raise hemoglobin levels…

This study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including for pregnant women and their babies. Researchers track serious side effects and disease complications. The goal is to better understa…

This study tests the long-term safety and effectiveness of pegtibatinase in people with classical homocystinuria (HCU), a rare genetic disorder that prevents the body from breaking down certain amino acids. About 100 participants who completed earlier studies will receive the dru…

This study tests a gene therapy for people with pyruvate kinase deficiency, a rare blood disorder causing severe anemia. Ten participants will receive their own blood stem cells modified with a healthy gene to help produce normal red blood cells. The goal is to raise hemoglobin l…

This study tests a rapid drug desensitization (RDD) protocol for adults with phenylketonuria (PKU) who have had allergic reactions to Palynziq. Over one day, patients receive gradually increasing doses to retrain their immune system. The goal is to see if they can safely restart …

This study tests whether sodium phenylbutyrate, a drug already approved for another condition, can help people with MCAD deficiency (a genetic disorder that affects fat breakdown). About 24 participants aged 10 and older will take the drug for 4 weeks. Researchers will check for …

This study tests a one-time gene therapy called SAR444836 for adults with phenylketonuria (PKU), a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The therapy uses a harmless virus to deliver a working copy of the missing gene. Researchers wa…

This study tests an injectable drug called pegvaliase in 55 teenagers (ages 12-17) with phenylketonuria (PKU) who have high blood Phe levels despite diet management. Half get the drug, half stick to diet only. The goal is to see if pegvaliase safely lowers Phe levels and reduces …

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study tests a drug called triheptanoin in 8 adults with MCADD, a rare condition that can cause dangerously low blood sugar. The goal is to see if the drug is safe and can prevent hypoglycemia during fasting. Participants will stay overnight at a hospital for monitoring and b…

This study is a global registry that will follow about 500 people with pyruvate kinase (PK) deficiency, a rare inherited anemia, for up to 9 years. Researchers will collect medical data to better understand the disease's natural history, treatments, and complications. No new drug…

This study follows up to 90 children and young adults with mitochondrial liver diseases to learn how these conditions progress over time. Researchers will collect medical data and samples to better understand the diseases and find markers that predict outcomes. The goal is to imp…

This study followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …

This early study tests whether taking creatine supplements for a week can lower the production of homocysteine, a toxic amino acid, in healthy adult men. Homocystinuria is a rare inherited disorder where the body cannot break down homocysteine, often requiring a difficult low-pro…

This study follows 46 people with gyrate atrophy, a rare genetic condition that causes vision loss, over 4 years. Researchers measure ornithine levels in the blood and track changes in the retina using eye scans and photos. The goal is to learn how the disease progresses under st…

This study was designed to observe how patients with hereditary tyrosinemia type 1 (HT-1) in China respond to nitisinone treatment in everyday medical practice. It planned to track serious health events like liver problems or death. However, the study was withdrawn before enrolli…

This study tests whether a 48-hour BH4 loading test can predict which people with phenylketonuria (PKU) will respond to treatment. Twenty participants receive BH4 and have their blood phenylalanine levels measured over two days. The goal is to link test results with each person's…