Landmark study seeks clues in rare genetic disorders

NCT ID NCT05047354

Recruiting now Knowledge-focused Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Source: ClinicalTrials.gov ↗

Summary

This study aims to better understand Smith-Lemli-Opitz syndrome and related genetic disorders that affect cholesterol production. Researchers will observe 250 participants with these conditions over several years, collecting health information and biological samples. The goal is to learn how these diseases progress and identify measures that could be used to test future treatments.

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.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Contacts and locations

Show contact details

Study contacts

Contact

Phone: •••-•••-•••• Email: •••••@•••••
Contact

Phone: •••-•••-•••• Email: •••••@•••••

Locations

National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States

Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.

CHILD SYNDROME DESMOSTEROLOSIS LATHOSTEROLOSIS SMITH LEMLI OPITZ SYNDROME