Scientists launch Largest-Ever study to unravel rare metabolic disease
NCT ID NCT02890342
First seen Jun 24, 2026 · Last updated Jul 22, 2026 · Updated 9 times
Summary
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. The goal is to better understand the long-term complications of PA and identify genetic factors that may influence the disease.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this study could help doctors better understand propionic acidemia and improve future care and monitoring.
- What could go wrong
- This is an observational study, not a treatment trial. It will not test any new therapy, so there is no direct benefit to participants.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Email: •••••@•••••
Locations
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Children's Hospital of Pittsburgh
RECRUITINGPittsburgh, Pennsylvania, 15224, United States
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
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