Recruiting
Phase 3

Observational Study

Sponsor:

Johns Hopkins University

Code:

NCT02000089

Conditions

Pancreas Cancer

Peutz-Jeghers Syndrome (PJS)

Gene Mutation

Germline Mutation Carrier

Lynch Syndrome

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Interventions

Secretin

MRI

Tumor marker gene test with CA19-9

Study Details

Brief summary:

Johns Hopkins clinical research office quality assurance group will monitor and audit this study at Johns Hopkins. The Sub Investigator at each site will be responsible for internal monitoring at their site.

Conditions

Pancreas Cancer

Peutz-Jeghers Syndrome (PJS)

Gene Mutation

Germline Mutation Carrier

Lynch Syndrome

Study ID

NCT02000089

Start date

Jan 6, 2014

Status verified date

Oct, 2025

Completion date

Jun, 2029

Anticipated

Primary completion date

Dec, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Hereditary Pancreatitis or
  • Peutz-Jeghers Syndrome or
  • Strong family history of pancreas cancer on one side of the family tree or
  • Confirmed germline mutation carrier (BRCA2, FAMMM (CDKN2A/p16), PALB2, BRCA1, ATM, HNPCC, Lynch Syndrome (hMLH1, hMSH2, PMS2, hMSH6, EpCAM) PRSS1, PRSS2, R122H, N291l, SPINK1, CFTR
  • Endoscopic evaluation of pancreas scheduled

Exclusion Criteria:

  • Medical comorbidities or coagulopathy that contraindicate endoscopy
  • Prior surgery that prevent optimal endoscopic ultrasound such as partial or complete gastrectomy with Bilroth or Roux-en-Y anastomosis
  • Stricture or obstruction in the upper GI tract that does not allow passage of the echoendoscope
  • Poor performance status
  • Inability to provide informed consent
  • Pregnancy.

Study Design

Enrollment

9000 participants

Anticipated

Allocation

Non randomized

Intervention Model

Single group

Primary purpose

Diagnostic

Interventions and Outcome Measures

Arms

active comparator: Familial pancreas cancer relatives

High Risk Group 2 (familial pancreatic cancer relatives):

1. > 55 years old or 10 years younger than the age of youngest relative with pancreatic cancer, and
2. come from a family with 2 or more members with a history of pancreatic cancer (2 of which have a first-degree relationship consistent with familial pancreatic cancer), and
3. have a first-degree relationship with at least one of the relatives with pancreatic cancer.

If there are 2 or more affected blood relatives, at least 1 must be a first-degree relative of the individual being screened

active comparator: Group 1 germline mutation carrier

High Risk Group 3 (Group 1 germline mutation carriers with an associated with an estimated lifetime risk of pancreatic cancer of \~10% or higher):

a. > 50 years old or 10 years younger than the age of the youngest relative affected, if pancreatic cancer is in family, and b. The Patient is a carrier of a confirmed BRCA2, ATM or PALB2 mutation, regardless of family history of pancreatic cancer. b.> Individual is a carrier of a confirmed FAMMM (p16/CDKN2A) mutation, age 40 years or older, regardless of family history of pancreas cancer.

active comparator: Group 2 germline mutation carrier

High Risk Group 4 (Group 2 germline mutation carriers with an associated with an estimated lifetime risk of pancreatic cancer of \~5%):

1. > 50 years old or 10 years younger than the age of the youngest relative with pancreatic cancer, and
2. The patient is a carrier of a confirmed BRCA1 or HNPCC (hereditary non-polyposis colorectal cancer or Lynch syndrome, hMLH1, hMSH2, PMS1, hMSH6, EpCAM) gene mutation, and there is > 1 pancreatic cancer in the family, one of whom is a first- or second-degree relative of the subject to be screened.

active comparator: Hereditary pancreatitis

High risk group 5 (hereditary pancreatitis) with confirmed gene mutations that predispose to chronic pancreatitis, such as PRSS1, PRSS2, CTRC) and age 50 years or older (these patients have an estimated lifetime risk for pancreatic cancer of 40%) or twenty-years since their first attack of pancreatitis, whichever age is younger.

active comparator: Peutz-Jeghers Syndrome

1. At least 30 years old, and
2. at least 2 of 3 criteria diagnostic of Peutz-Jeghers syndrome (characteristic intestinal hamartomatous polyps, mucocutaneous melanin deposition, or family history of Peutz-Jeghers syndrome), or,
3. known STK11 gene mutation carrier

active comparator: Negative control

1. are undergoing routine EGD or Colonoscopy; or Endoscopic Ultrasound (EUS) and/or Endoscopic Retrograde Cholangiopancreatography (ERCP) for non-pancreatic indications as part of their standard medical care, and
2. have no clinical or radiologic suspicion of pancreatic disease (chronic pancreatitis or pancreatic cancer)

active comparator: Chronic Pancreatitis

1. are undergoing EUS and/or ERCP for evaluation and/or treatment of suspected or proven chronic pancreatitis as part of their standard medical care, and,
2. have no clinical or radiologic suspicion of pancreatic cancer

active comparator: Pancreas cancer

a. are undergoing EUS and/or ERCP for evaluation and/or treatment of suspected or proven pancreatic ductal adenocarcinoma (based on clinical and radiologic evidence)

active comparator: Pancreas cyst, IPMN evaluation

are undergoing EUS and/or ERCP for evaluation and/or treatment of suspected or proven pancreatic cancer precursor, intraductal papillary mucinous neoplasm (based on clinical presentation and radiologic or prior EUS or radiologic evidence of a dilated main pancreatic duct and/or pancreatic cystic lesion communicating with the pancreatic ductal system).

Interventions

Secretin

inject Secretin to stimulate pancreatic digestive fluid, which is collected in duodenum near ampulla via endoscope suction port. This fluid will be assessed for biomarkers.

MRI

MRI abdomen with contrast (MRCP) will be clinically indicated for abnormal novel CA-19-9 lab results.

Tumor marker gene test with CA19-9

A tumor marker gene test that will be used to stratify individuals into one of several circulating tumor marker reference ranges for CA19-9. The variants in the genes FUT3 and FUT2 affect the levels of CA19-9.

Primary outcome measure

  • Evaluate pancreatic juice for early cancer markers. [ Time Frame: 10 years ]

Central Contacts and Locations

Central contacts

Hilary Cosby, RN

hcosby1@jhmi.edu

Locations

Yale University

Recruiting

New Haven, Connecticut, United States, 06520

Contacts

Principal Investigator:

James Farrell, MD

Johns Hopkins Hospital

Recruiting

Baltimore, Maryland, United States, 21287

Contacts

Hilary Cosby, RN, CGRN

410-502-2893hcosby1@jhmi.edu

Principal Investigator:

Michael Goggins, MD

Dana Farber Cancer Center, Harvard University

Recruiting

Boston, Massachusetts, United States, 02215

Contacts

Principal Investigator:

Sapna Syngal, MD

University of Michigan

Recruiting

Ann Arbor, Michigan, United States, 48109

Contacts

NYU Langone Medical Center

Recruiting

New York, New York, United States, 10016

Contacts

Principal Investigator:

Tamas Gonda, MD

Columbia University Medical Center

Recruiting

New York, New York, United States, 10032

Contacts

Katharine Godfrey

kb3217@cumc.columbia.edu

Principal Investigator:

Fay Kastrinos, MD

Case Comprehensive Cancer Center, Case Western Medical Reserve

Recruiting

Cleveland, Ohio, United States, 44106

Contacts

University of Pennsylvania

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

University of Pittsburgh

Recruiting

Pittsburgh, Pennsylvania, United States, 15213

Contacts

Christine Decapite

decapitec@upmc.edu

Principal Investigator:

Randall Brand, MD

More Information

Sponsor

Johns Hopkins University

Last update posted

Oct 9, 2025

Last verified

Oct, 2025

Keywords

  • familial pancreas cancer
  • (Peutz-Jeghers Syndrome) PJS
  • Breast cancer (BRCA) 2
  • Partner and Locator of BRCA2 (PALB2)
  • Familial Atypical Multiple Mole- Melanoma (FAMMM)
  • p16, CDKN2A
  • Breast Cancer (BRCA)1
  • (hereditary non-polyposis colorectal cancer or Lynch syndrome) HNPCC
  • Lynch Syndrome
  • hereditary pancreatitis
  • Protease Serine (PRSS)
  • Chymotrypsin C (CTRC)
  • Ataxia Telangiectasia Mutated(ATM)

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Johns Hopkins University on 2025-10-09.