Classic organic aciduria

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

This 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 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 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 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 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 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 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 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 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 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 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…