Genetic Linkage Study for Hereditary Pancreatitis
| Status: | Recruiting |
|---|---|
| Conditions: | Gastrointestinal |
| Therapuetic Areas: | Gastroenterology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 5/17/2018 |
| Start Date: | December 1998 |
| End Date: | December 2023 |
| Contact: | David C Whitcomb |
| Email: | whitcomb@pitt.edu |
| Phone: | 412-578-9515 |
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).
(HP) to the cationic trypsinogen gene or other, as yet unknown, HP gene(s).
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.
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.
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
We found this trial at
1
site
Pittsburgh, Pennsylvania 15213
Phone: 412-578-9515
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