Rare genetic disorder under the microscope: can cholesterol help?
NCT ID NCT00001721
First seen Nov 01, 2025 · Last updated Jun 22, 2026 · Updated 33 times
Summary
This study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic disorder that affects cholesterol production and causes birth defects and intellectual disabilities. Researchers enrolled 130 patients and their mothers to learn more about the disease's progression, genetic causes, and whether adding cholesterol to the diet could help with growth and brain development. The goal was to gather knowledge, not to test a new cure.
Disclaimer
Read more
Show less
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.
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.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for SMITH-LEMLI-OPITZ SYNDROME are added.
Genom att skicka in godkänner du våra Användarvillkor
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
Genom att skicka in godkänner du våra Användarvillkor
Locations
-
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
Active substance
Cholesterol
What this could lead to
If successful, this research could improve understanding of SLOS and point toward better management strategies for growth and development issues.
What could go wrong
This is an observational study, not a treatment trial, so it won't directly lead to a cure. Results may not apply to all patients, and cholesterol therapy has limited ability to correct organ abnormalities.
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.