Scientists track rare metabolic disease to uncover its secrets
NCT ID NCT02890342
First seen Nov 01, 2025 · Last updated Jun 15, 2026 · Updated 32 times
Summary
This study follows people with propionic acidemia (PA), a rare condition where the body can't break down certain food chemicals properly. Researchers want to learn how PA affects growth, organs, and overall health over many years. Participants aged 2 and older visit the clinic for a few days each year for tests like blood draws, heart checks, and brain scans. The goal is to better understand the disease and find genes that may play a role.
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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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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: •••••@•••••
Conditions
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