Scientists probe rare genetic disorder to unlock its secrets
NCT ID NCT00001721
Summary
This study aimed to better understand Smith-Lemli-Opitz syndrome (SLOS), a rare genetic disorder that affects development. Researchers observed 130 patients with SLOS and their mothers to learn about the disease's progression and to see if adding cholesterol to the diet could help. The goal was to gather knowledge to improve future care, not to test a new cure.
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Contacts and locations
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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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