Genetic Linkage Study for Hereditary Pancreatitis

Molecular Genetics of Hereditary Pancreatitis

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 gene(s).

Study Overview

• Status: Completed
• Conditions: Pancreatitis

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 Type: Observational
• Enrollment (Actual): 808

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15213-2582
      • University of Pittsburgh, Presbyterian University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

• Diagnosis of hereditary pancreatitis with confirmation of phenotype by: Onset of pain before age 20 Amylase elevation at least 2 times normal Surgical or postmortem confirmation of pancreatitis Unequivocal evidence of pancreatic exocrine insufficiency in the absence of trauma, alcohol abuse, elevated serum lipids, or other known causes
• Family member of a patient diagnosed with hereditary pancreatitis

Description

Inclusion Criteria:

1. Diagnosis of pancreatitis at age < 60 OR
2. Diagnosis of pancreatitis at any age and at least one other 1st or 2nd degree relative with a diagnosis of pancreatitis or pancreatic cancer OR
3. Diagnosis of pancreatic cancer and a 1st or 2nd degree relative with pancreatic cancer or pancreatitis OR
4. Diagnosis of pancreatic insufficiency or maldigestion that improves with pancreatic enzyme replacement OR
5. Close family members (parents, grandparents, siblings cousins - anyone related by blood) of subjects who meet criteria 1, 2, or 3 AND
6. Age 3 months up to 100 years

Exclusion Criteria:

There are no general exclusions.

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: University of Pittsburgh
• Investigators: Study Chair: David C. Whitcomb, University of Pittsburgh

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 1998
• Primary Completion (Actual): December 1, 2022
• Study Completion (Actual): December 1, 2022

Study Registration Dates

• First Submitted: October 18, 1999
• First Submitted That Met QC Criteria: October 18, 1999
• First Posted (Estimated): October 19, 1999

Study Record Updates

• Last Update Posted (Actual): August 14, 2023
• Last Update Submitted That Met QC Criteria: August 10, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Disease Attributes; Pancreatic Diseases; Chronic Disease; Pancreatitis; Pancreatitis, Chronic
• Other Study ID Numbers: PRO07090243

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No