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Genetic Linkage Study for Hereditary Pancreatitis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00004475
Recruitment Status : Enrolling by invitation
First Posted : October 19, 1999
Last Update Posted : July 18, 2019
Information provided by (Responsible Party):
David Whitcomb, University of Pittsburgh

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

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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Family-Based
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Pancreatitis

Biospecimen Retention:   Samples With DNA
Blood or saliva samples are collected from patients and family members. DNA is extracted and used for genotypic analysis.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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

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.

Information from the National Library of Medicine

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 identifier (NCT number): NCT00004475

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United States, Pennsylvania
University of Pittsburgh, Presbyterian University Hospital
Pittsburgh, Pennsylvania, United States, 15213-2582
Sponsors and Collaborators
University of Pittsburgh
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Study Chair: David C. Whitcomb University of Pittsburgh

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Responsible Party: David Whitcomb, Principal Investigator, University of Pittsburgh Identifier: NCT00004475     History of Changes
Other Study ID Numbers: PRO07090243
First Posted: October 19, 1999    Key Record Dates
Last Update Posted: July 18, 2019
Last Verified: July 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Pancreatitis, Chronic
Pancreatic Diseases
Digestive System Diseases