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Prevalence and implications of cholestatic gene mutations in suspected intrahepatic cholestasis of pregnancy among a diverse U.S. cohort: a prospective study in a diverse health setting with 8000+ annual pregnancy deliveries

Clinical Trial Details

This is a prospective cohort study that aims to determine the genetic risk of intrahepatic cholestasis of pregnancy (ICP) and identify if there are underlying gene mutations that lead to ICP, progressive familial intrahepatic cholestasis (PFIC), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC). The primary objective of the study is to determine the prevalence, predictors, and obstetric outcomes of pathogenic cholestatic genetic variants among women diagnosed with ICP. 
   
We will determine the prevalence of known cholestatic genetic mutations as well as variants of unknown significance and correlate associations of genetic mutations with severity of disease, maternal characteristics, obstetric and neonatal outcomes. Data collection variables include basic demographics, bile acid level, symptomatology, liver test, prior liver disease, prior ICP, ursodiol use, gestational age at suspected diagnosis, gestational age at delivery, meconium, birth weight, Apgar score, and NICU admission. Pruritus symptoms 6 weeks postpartum will be assessed using an email survey.

Key Eligibility: 
  • All pregnant patients ages 18 and above with diagnosed intrahepatic cholestasis of pregnancy will be identified during the study period and recruited through WCM at time of delivery.

Study contact by location

Upper East Side - Manhattan

Contact(s)

Clara McNatt
646-962-5483
cjm4005@med.cornell.edu

Primary Investigator(s)

Protocol ID(s)

Weill Cornell Medicine IRB #:

2505028898

Status

Not Yet Recruiting

Age Group

Adult

Sponsor