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ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00700232
Recruitment Status : Completed
First Posted : June 18, 2008
Last Update Posted : June 17, 2010
Information provided by:
University Hospital, Tours

Brief Summary:

Mutations of the ATP binding cassette subfamily B member 4 (ABCB4) gene, a gene involved in a subtype of progressive familial intrahepatic cholestasis, have been reported in women suffering from intrahepatic cholestasis of pregnancy. The true incidence and the role of these ABCB4 gene mutations in patients suffering from intrahepatic cholestasis of pregnancy have not been clearly established.

The aim of the present study is to describe the nature and frequency of these mutations in a series of patients with intrahepatic cholestasis of pregnancy and to compare with a control group of pregnant women without intrahepatic cholestasis of pregnancy.

Condition or disease
Intrahepatic Cholestasis of Pregnancy

Detailed Description:

Intrahepatic cholestasis of pregnancy was defined by pruritus and elevated serum alanine aminotransferase activity or bile acid concentration, with recovery after delivery. Patients with intercurrent liver disease were excluded.

The entire ABCB4 gene coding sequence and the promoter region were analyzed, during the routine medical management, by single strand conformation polymorphism and/or sequencing in 50 unrelated Caucasian patients with intrahepatic cholestasis of pregnancy.

The genomic variants detected in these patients with intrahepatic cholestasis of pregnancy will be sought in 100 control women from Caucasian origin recruited in the same hospital.

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Study Type : Observational
Actual Enrollment : 120 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Mutations and Polymorphisms of Gene ABCB4 Among Women Suffering From Intrahepatic Cholestasis of Pregnancy. A Study With a Control Group.
Study Start Date : July 2006
Actual Primary Completion Date : July 2008
Actual Study Completion Date : July 2009

Normal multiparous pregnant women without intrahepatic cholestasis of pregnancy (control group)

Biospecimen Retention:   Samples With DNA
blood samples

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
multiparous normal pregnant women (control group)from a single University center

For the control group :

Inclusion Criteria:

  • pregnant woman (age > 18 years) during the third trimester
  • caucasian and born in France
  • multiparous (with at least 2 full term pregnancies)
  • with informed written consent

Exclusion Criteria:

  • generalized pruritus and/or liver disease during pregnancy
  • liver disease secondary to oral contraception
  • Chronic liver disease
  • disease during current pregnancy

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00700232

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Service de Gynécologie Obstétrique CHRU Tours
Tours, France, 37044
Sponsors and Collaborators
University Hospital, Tours
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Study Director: BACQ Yannick, MD Service d'hépato-gastro-entérologie CHRU Tours

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Responsible Party: University Hospital, Tours Identifier: NCT00700232    
Other Study ID Numbers: AOHP06-YB GEN CIG
First Posted: June 18, 2008    Key Record Dates
Last Update Posted: June 17, 2010
Last Verified: June 2010
Keywords provided by University Hospital, Tours:
gene expression
Additional relevant MeSH terms:
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Cholestasis, Intrahepatic
Pregnancy Complications
Bile Duct Diseases
Biliary Tract Diseases
Digestive System Diseases
Liver Diseases