Search / Trial NCT00001642

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

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Dec 9, 2002

Trial Information

Current as of December 14, 2024

Completed

Keywords

Chromosomal Deletion Mutations Paucity Of Bile Ducts Physical Map Transcript Identification Alagille Syndrome Syndromic Bile Duct Paucity

ClinConnect 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. Characteri...

Gender

ALL

Eligibility 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.

About National Human Genome Research Institute (Nhgri)

The National Human Genome Research Institute (NHGRI) is a prominent research organization within the National Institutes of Health (NIH) dedicated to advancing the field of genomics and its applications in health and medicine. NHGRI sponsors and conducts a wide range of clinical trials aimed at understanding the genetic basis of diseases, developing innovative genomic technologies, and translating genomic research into clinical practice. With a commitment to ethical research and collaboration, NHGRI plays a pivotal role in shaping the future of personalized medicine and improving patient outcomes through genomic discoveries.

Locations

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0

Similar Trials