Positional Cloning of the Gene(s) Responsible for Alagille Syndrome

Plain-language summary

This study aimed to identify the gene or genes responsible for Alagille syndrome. Patients diagnosed with Alagille syndrome based on liver biopsy findings and specific clinical criteria could take part. It was carried out as a study with no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

National Human Genome Research Institute (NHGRI)

Start date

5/1/1997

Estimated completion

3/1/2000

Countries

United States

Related genes

Locations

• Bethesda, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

All enrolled affected subjects, whose samples will be analyzed in this study, must meet the criteria for the clinical diagnosis of Alagille Syndrome (Syndromic Bile Duct Paucity) which include liver biopsy findings consistent with Alagille Syndrome and at least 3 of the 5 primary clinical criteria: cholestasis, characteristic face, posterior embryotoxon, "butterfly" vertebrae and cardiac findings.