Researchers track rare metabolic disease to uncover its secrets

NCT ID NCT02890342

First seen Nov 01, 2025 · Last updated May 15, 2026 · Updated 25 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 genetic factors, not to test a new treatment.

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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

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Children's Hospital of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.