Scientists seek clues in rare genetic disorders to pave way for future treatments
NCT ID NCT05047354
Summary
This study aims to better understand Smith-Lemli-Opitz syndrome and related rare genetic disorders that affect how the body makes cholesterol. Researchers will observe up to 250 people with these conditions and their relatives over several years, collecting health information and samples. The goal is to gather detailed knowledge about how these diseases progress, which will help scientists design and test future treatments.
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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: •••••@•••••
Conditions
Explore the condition pages connected to this study.