Ignite Creation Date:
2024-05-05 @ 11:20 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001642
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
2000-04-06
Brief Title:
Positional Cloning of the Genes Responsible for Alagille Syndrome
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Positional Cloning of the Genes Responsible for Alagille Syndrome
Status:
COMPLETED
Status Verified Date:
1999-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The goal of the project is to identify and clone the genes 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
Detailed Description:
The goal of the project is to identify and clone the genes 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 97-HG-0122 | None | None | None |