New study aims to unlock secrets of rare cholesterol diseases
NCT ID NCT05047354
First seen Sep 30, 2025 · Last updated Jun 20, 2026 · Updated 32 times
Summary
This natural history study observes people with Smith-Lemli-Opitz syndrome and related cholesterol disorders to better understand the diseases. Researchers will track symptoms, development, and lab results over several years. The goal is to find reliable measures that could be used in future treatment trials. No experimental treatment is given.
Disclaimer
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This is a summary of
the original study
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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.
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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this study could identify ways to measure disease progression, helping design future treatments for these rare cholesterol disorders.
What could go wrong
This is an observational study, not a treatment trial. It will not directly improve symptoms, and findings may not lead to effective therapies.
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.