Scientists launch Largest-Ever study to unravel rare metabolic disease
NCT ID NCT02890342
First seen Jun 24, 2026 · Last updated Jul 01, 2026 · Updated 4 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.
Disclaimer
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This is a summary of
the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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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
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Children's Hospital of Pittsburgh
RECRUITINGPittsburgh, Pennsylvania, 15224, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••