Clinical trial NCT00004475: Genetic Linkage Study for Hereditary Pancreatitis
Official title: Molecular Genetics of Hereditary Pancreatitis
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Pancreatitis
Lead sponsor: University of Pittsburgh
Sponsor class: OTHER
First posted: 1999-10-19
Enrollment: 808
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
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

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).

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.

Eligibility criteria: 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.

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Pittsburgh
country: United States
facility: University of Pittsburgh, Presbyterian University Hospital
state: Pennsylvania
Study officials:
affiliation: University of Pittsburgh
name: David C. Whitcomb
role: STUDY_CHAIR
References: