NIH launches study to unravel mysteries of rare Sugar-Building disorders

NCT ID NCT02089789

First seen Nov 19, 2025 · Last updated May 15, 2026 · Updated 31 times

Summary

This study aims to better understand congenital disorders of glycosylation (CDG), rare conditions where the body can't properly attach sugar chains to proteins and fats. Researchers will examine up to 200 people with known or suspected CDG, including family members, using medical history, physical exams, blood tests, imaging, and other evaluations. The goal is to improve diagnosis and lay the groundwork for future treatments.

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Contacts and locations

Study contacts

  • Contact

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

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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

Conditions

Explore the condition pages connected to this study.