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

The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease. Recently, we and others found that mutations in Jagged1, a Notch1 receptor are responsible for Alagille Syndrome.

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Key information

Conditions

Alagille Syndrome Abnormalities, Multiple Aneuploidy Bile Duct Diseases Biliary Tract Diseases Cardiovascular Abnormalities Cardiovascular Diseases Cholestasis Cholestasis, Intrahepatic Chromosome Aberrations Chromosome Deletion Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Genetic Diseases, Inborn Heart Defects, Congenital Liver Diseases Monosomy Pathologic Processes Pathological Conditions, Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, 20892, United States

About this study

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Sponsors and collaborators

Lead sponsor

National Human Genome Research Institute (NHGRI)

Nih

Registry information

Important dates

Study start: 1997
Study completion: 2000
First posted: Dec 10, 2002
Registry last updated: Mar 4, 2008

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed