New study aims to unlock secrets of rare cholesterol diseases

NCT ID NCT05047354

First seen Sep 30, 2025 · Last updated Jun 13, 2026 · Updated 31 times

Summary

This study is for people with Smith-Lemli-Opitz syndrome or related cholesterol disorders, as well as their relatives. Researchers want to learn more about how these diseases affect the body and mind over time. No new treatments are being tested; the goal is to gather information that could help design future therapies. Participants will have regular check-ups, surveys, and optional tests like eye exams or hearing tests.

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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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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

Conditions

Explore the condition pages connected to this study.