Scientists track rare metabolic disease to uncover its secrets
NCT ID NCT02890342
First seen Nov 01, 2025 · Last updated May 24, 2026 · Updated 29 times
Summary
This study follows people with propionic acidemia (PA), a rare metabolic disorder, to learn how the disease affects the body over years. Participants aged 2 and older visit the clinic annually for tests like blood draws, heart checks, and brain scans. The goal is to better understand long-term complications and the role of genes, not to test a new treatment.
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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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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: •••••@•••••
Conditions
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