Researchers investigate rare genetic disorder and cholesterol treatment
NCT ID NCT00001721
First seen Nov 01, 2025 · Last updated May 14, 2026 · Updated 25 times
Summary
This study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic disorder that affects how the body makes cholesterol. It causes birth defects and developmental delays. Researchers studied 130 patients and their mothers to better understand the disease, its complications, and whether adding cholesterol to the diet could help with growth and mental development. The goal was to gather information, not to test a cure.
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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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Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Conditions
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