Genetic Linkage Study for Hereditary Pancreatitis

Sponsor

University of Pittsburgh (Other)

Overall Status

Enrolling by invitation

CT.gov ID

NCT00004475

Collaborator

(none)

1,000

Enrollment

Location

300

Anticipated Duration (Months)

3.3

Patients Per Site Per Month

Study Details

Study Description

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 gene(s).

Condition or Disease	Intervention/Treatment	Phase
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 Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Family-Based

Time Perspective:

Prospective

Official Title:

Molecular Genetics of Hereditary Pancreatitis

Actual Study Start Date :

Dec 1, 1998

Anticipated Primary Completion Date :

Dec 1, 2023

Anticipated Study Completion Date :

Dec 1, 2023

Outcome Measures

Primary Outcome Measures

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

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

Exclusion Criteria:

There are no general exclusions.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Pittsburgh, Presbyterian University Hospital	Pittsburgh	Pennsylvania	United States	15213-2582

Sponsors and Collaborators

University of Pittsburgh

Investigators

Study Chair: David C. Whitcomb, University of Pittsburgh

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

David Whitcomb, Principal Investigator, University of Pittsburgh

ClinicalTrials.gov Identifier:

NCT00004475

Other Study ID Numbers:

PRO07090243

First Posted:

Oct 19, 1999

Last Update Posted:

Aug 6, 2021

Last Verified:

Aug 1, 2021

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Pancreatitis

Pancreatitis, Chronic

Study Results

No Results Posted as of Aug 6, 2021