Rare genetic disorder studied for clues to better care
NCT ID NCT00001721
First seen Jun 25, 2026 · Last updated Aug 07, 2026 · Updated 13 times
Summary
This study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic condition 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 cholesterol supplements can help with growth and development. The goal was to gather knowledge, not to test a new cure.
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 guide better management of growth and developmental issues.
- What could go wrong
- This is an observational and exploratory study, not a treatment trial. It may not lead to new therapies, and results may not apply to all patients.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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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.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.