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

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ClinicalTrials.gov Identifier: NCT00001642
Recruitment Status : Completed
First Posted : December 10, 2002
Last Update Posted : March 4, 2008
Sponsor:
Information provided by:

Study Description
Brief Summary:
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.

Condition or disease
Alagille Syndrome

Detailed Description:
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.

Study Design

Study Type : Observational
Estimated Enrollment : 225 participants
Official Title: Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
Study Start Date : May 1997
Estimated Study Completion Date : March 2000

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts


Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
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.
Contacts and Locations

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 ClinicalTrials.gov identifier (NCT number): NCT00001642


Locations
United States, Maryland
National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
More Information

Publications:
ClinicalTrials.gov Identifier: NCT00001642     History of Changes
Other Study ID Numbers: 970122
97-HG-0122
First Posted: December 10, 2002    Key Record Dates
Last Update Posted: March 4, 2008
Last Verified: May 1999

Keywords provided by National Institutes of Health Clinical Center (CC):
Chromosomal Deletion
Mutations
Paucity of Bile Ducts
Physical Map
Transcript Identification
Alagille Syndrome
Syndromic Bile Duct Paucity

Additional relevant MeSH terms:
Syndrome
Alagille Syndrome
Disease
Pathologic Processes
Cholestasis, Intrahepatic
Cholestasis
Bile Duct Diseases
Biliary Tract Diseases
Digestive System Diseases
Liver Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn