Propionic acidemia
MONDO:0011628An organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
Also known as: GLYCINEMIA, ketotic, ketotic hyperglycinemia, propionic acidemia, propionic aciduria, propionyl-CoA carboxylase deficiency, Propionicacidemia, prop
8 clinical trials for this condition and its sub-types.
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Experimental gene therapy targets rare metabolic disease in toddlers
Disease control Recruiting nowThis 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 …
Phase: PHASE1 • Sponsor: Mayo Clinic • Aim: Disease control
Last updated Jun 27, 2026 14:02 UTC
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New mRNA treatment for rare metabolic disease moves to Long-Term safety check
Disease control Recruiting nowThis 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 …
Phase: PHASE1, PHASE2 • Sponsor: ModernaTX, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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MRNA therapy takes on rare metabolic disease
Disease control Recruiting nowThis 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…
Phase: PHASE1, PHASE2 • Sponsor: ModernaTX, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Scientists launch Largest-Ever study to unravel rare metabolic disease
Knowledge-focused Recruiting nowThis 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…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 23, 2026 00:00 UTC
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Tiny gut molecules spark big metabolic questions
Knowledge-focused Recruiting nowThis 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…
Phase: NA • Sponsor: University of Copenhagen • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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No treatment, just data: new study tracks rare metabolic disease
Knowledge-focused Recruiting nowThis 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,…
Sponsor: ModernaTX, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:02 UTC