Active Clinical Studies
Gastrointestinal Cancer and Polyposis Registry
Every day, we work to better understand, diagnose and treat hereditary gastrointestinal cancer and polyposis syndromes. One way that we're doing this at Penn Medicine is through the Gastrointestinal Cancer and Polyposis Registry. The Gastrointestinal Cancer and Polyposis Registry is a voluntary research registry for patients, which facilitates research on gastrointestinal cancer and polyposis syndromes. Patient participation in this registry enables our clinical staff to store medical and family history information and allows us to contact participants in the future if we have updated information on testing results, new testing options or advances related to a condition, research opportunities, clinical trials or new therapies.
Primary Investigator: Bryson Katona, MD, PhD
Lynch syndrome Immune Profiling Project (LIP2)
The goal of this study is to characterize the immune profile in peripheral blood of individuals with Lynch syndrome and also to determine the immune response to vaccinations in individuals with Lynch syndrome. Eligible patients are those with Lynch syndrome as documented by a pathogenic/likely pathogenic germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM. Participants will be asked to provide a research blood sample one or more times per year.
Primary Investigator: Bryson Katona, MD, PhD
Lynch syndrome mucosal Immune and MicroBiOme initiative (LIMBO)
The goal of this study is to better understand the immune system and microbiome (bacteria) of the colon in individuals with Lynch syndrome and how they may contribute to the development of colon polyps and colon cancer. Eligible patients include those who have Lynch syndrome as documented by a pathogenic/likely pathogenic germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM and who may be undergoing a colonoscopy or flexible sigmoidoscopy. Participants will provide a research stool sample and/or research biopsies will be obtained from the colon during a colonoscopy or flexible sigmoidoscopy.
Primary Investigator: Bryson Katona, MD, PhD
CORAL
This is a multi-center study that collects stool and also potentially blood samples from patients with suspected or diagnosed Lynch syndrome to determine the sensitivity and specificity of the multitarget stool DNA (mt-sDNA) 2.0 test, for colorectal neoplasia in patients with Lynch syndrome. Participants will provide a stool sample as well as an optional blood sample.
Primary Investigator: Bryson Katona, MD, PhD
www.clinicaltrials.gov/study/NCT05410977
The Cancer of the Pancreas Screening-5 (CAPS5) Study
This is a multi-center study that focuses on research to improve pancreatic cancer early detection across a large cohort of high-risk individuals undergoing pancreatic screening and surveillance. Eligible patients include those with a strong family history of pancreatic cancer on one side of their family, Peutz-Jeghers syndrome, or a confirmed germline mutation in a gene that is known to increase the risk of pancreatic cancer development (Lynch syndrome [MLH1, MSH2, MSH6, PMS2, EPCAM], BRCA1/2, FAMMM [p16/CDKN2A], PALB2, ATM, or hereditary pancreatitis [PRSS1/2 or CTRC]). Participants will undergo annual monitoring of the pancreas, primarily through the use of endoscopic ultrasound or MRI.
Primary Investigator: Bryson Katona, MD, PhD
www.clinicaltrials.gov/study/NCT02000089
Pancreatic Cancer Early Detection (PRECEDE) Consortium
The purpose of the PancReatic Cancer Early DEtection (PRECEDE) Consortium is to conduct research on multiple aspects of early detection and prevention of pancreatic cancer. This will be done by establishing a multi-site cohort of individuals with a strong family history of pancreatic cancer and/or individuals carrying mutations (including Lynch syndrome) in genes linked to pancreatic cancer risk for longitudinal follow up. Enrollment in this study does not preclude enrollment in other pancreatic cancer early detection studies. The PRECEDE consortium is sponsored by Project Purple.
Primary Investigator: Bryson Katona, MD, PhD
www.clinicaltrials.gov/study/NCT04970056
Defining the Role of Germline Genetic Variants in Gastric Cancer Tumorigenesis
The goal of this study is to help understand how differences in genes can increases one’s risk of developing gastric (stomach) cancer. Individuals can participate if they are undergoing an upper endoscopy as part of their routine care and are age 18 or older. Individuals who carry a known genetic risk factor for gastric cancer such as Lynch syndrome, individuals with a strong family history of gastric cancer, and individuals with no known risk factors for gastric cancer are all eligible to participate. Eligible participants will have a research blood sample collected and will have research biopsies collected during their upper endoscopy.
Primary Investigator: Bryson Katona, MD, PhD
Analysis of Primary and Metastatic Colorectal Cancer
This is an observational study that aims to further understand the development and progression of primary and metastatic colorectal cancers through bio-sample collection (blood, leftover tissue) from individuals diagnosed with colorectal cancer who are undergoing surgery. The goals of this study are to utilize these collected bio-samples to promote research in colorectal cancer in order to improve future diagnostics, monitoring, and treatments options for this disease. Eligible patients will undergo two blood draws (one before surgery and one after surgery) and extra leftover tissue from their surgery will be collected.
Primary Investigator: Bryson Katona, MD, PhD