Genetic Linkage Study for Hereditary Pancreatitis
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|ClinicalTrials.gov Identifier: NCT00004475|
Recruitment Status : Enrolling by invitation
First Posted : October 19, 1999
Last Update Posted : July 18, 2019
|Condition or disease|
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 Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Molecular Genetics of Hereditary Pancreatitis|
|Actual Study Start Date :||December 1998|
|Estimated Primary Completion Date :||December 2023|
|Estimated Study Completion Date :||December 2023|
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): NCT00004475
|United States, Pennsylvania|
|University of Pittsburgh, Presbyterian University Hospital|
|Pittsburgh, Pennsylvania, United States, 15213-2582|
|Study Chair:||David C. Whitcomb||University of Pittsburgh|