Rare disease study seeks to unlock secrets of LCAT deficiency

NCT ID NCT06217588

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is not testing a new treatment. Instead, it aims to collect health information from 40 people with LCAT deficiency, a rare genetic disorder that affects cholesterol and kidney function. Researchers will review medical records, perform blood and urine tests, and track how the disease progresses over time. The goal is to better understand the condition and find biomarkers that could help in future research.

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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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Conditions

The condition(s) this trial relates to.

cardiovascular disorder kidney disorder LCAT deficiency Lecithin Cholesterol Acyltransferase Deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

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

    Contact