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New study aims to unlock secrets of rare cholesterol diseases

NCT ID NCT05047354

First seen Sep 30, 2025 · Last updated May 01, 2026 · Updated 24 times

Summary

This study follows people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives, to better understand how these diseases affect the body and mind over time. Researchers will collect medical history, perform physical exams, and may do tests like eye exams, hearing tests, and lumbar punctures. The goal is to find ways to measure disease progression that could be used in future treatment trials. No treatments or cures are being tested.

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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.