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Sponsored by: |
National Human Genome Research Institute (NHGRI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00001642 |
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 |
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Alagille Syndrome |
Study Type: | Observational |
Official Title: | Positional Cloning of the Gene(s) Responsible for Alagille Syndrome |
Estimated Enrollment: | 225 |
Study Start Date: | May 1997 |
Estimated Study Completion Date: | March 2000 |
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.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
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.
Study ID Numbers: | 970122, 97-HG-0122 |
Study First Received: | April 6, 2000 |
Last Updated: | March 3, 2008 |
ClinicalTrials.gov Identifier: | NCT00001642 |
Health Authority: | United States: Federal Government |
Chromosomal Deletion Mutations Paucity of Bile Ducts Physical Map |
Transcript Identification Alagille Syndrome Syndromic Bile Duct Paucity |
Chromosome Deletion Liver Diseases Cardiovascular Abnormalities Alagille syndrome Cholestasis Cholestasis, Intrahepatic Digestive System Diseases |
Genetic Diseases, Inborn Bile Duct Diseases Alagille Syndrome Biliary Tract Diseases Abnormalities, Multiple Congenital Abnormalities Heart Defects, Congenital |
Pathologic Processes Disease Syndrome Cardiovascular Diseases |