Scientists launch major study to unlock mysteries of rare metabolic disease

NCT ID NCT02890342

Summary

This study aims to better understand propionic acidemia, a rare genetic disorder where the body cannot properly break down certain parts of food. Researchers will observe over 1,000 participants, including people with the condition and some family members, over several years through annual clinic visits. The goal is to track how the disease progresses, identify common health complications, and learn what factors influence a person's health over their lifetime.

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.