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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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.