Genetic Linkage Study for Hereditary Pancreatitis

Pancreatitis Clinical Trial

Official title:

Molecular Genetics of Hereditary Pancreatitis

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00004475
• Other study ID #: PRO07090243
• Status: Completed
• Start date: December 1998
• Est. completion date: December 2022

Study information

• Verified date: August 2023
• Source: University of Pittsburgh
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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 gene(s).

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 808
• Est. completion date: December 2022
• Est. primary completion date: December 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Pancreatitis
• Pancreatitis, Chronic

Locations

Country	Name	City	State
United States	University of Pittsburgh, Presbyterian University Hospital	Pittsburgh	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
University of Pittsburgh

Country where clinical trial is conducted

United States,