Viewing Study NCT00004475



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Last Modification Date: 2024-10-26 @ 9:04 AM
Study NCT ID: NCT00004475
Status: COMPLETED
Last Update Posted: 2023-08-14
First Post: 1999-10-18

Brief Title: Genetic Linkage Study for Hereditary Pancreatitis
Sponsor: University of Pittsburgh
Organization: University of Pittsburgh

Study Overview

Official Title: Molecular Genetics of Hereditary Pancreatitis
Status: COMPLETED
Status Verified Date: 2023-08
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 purpose of this study is to establish linkage in families with hereditary pancreatitis HP to the cationic trypsinogen gene or other as yet unknown HP genes
Detailed Description: Hereditary Pancreatitis HP is an inflammatory condition of the pancreas which is usually recurrent in nature and occurs in blood-related persons over two or more generations It is an autosomal dominant trait with complete penetrance by variable expression Symptoms are usually present during childhood and it is the second most common cause of chronic or recurrent pancreatitis in children HP is a primary disorder and can therefore be differentiated from other inherited disorders that cause secondary pancreatitis The purpose of this study is to establish linkage in families with HP between the phenotype and a chromosomal locus loci which contains the responsible gene Affected families are recruited to donate a blood sample through referral from their primary physician or self-referral The potential significance lies in the identification of the genetic defect causing HP and understanding the pathophysiologic mechanism of the disease Typically families with HP have a high incidence of adenocarcinoma of the pancreas and identification of the cause of this disease may provide critical insights into the cause of pancreatic cancer

Blood samples are collected from patients and family members DNA is extracted from the blood and used for genotypic analysis and linkage analysis Patients do not necessarily receive the results of the genetic testing and the results do not influence the type or duration of treatment

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None