Gastrointestinal Cancer Genetics Clinical Trials and Research

• 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.

  • PI: Bryson Katona, MD, PhD
  • Contact: Michaela Dungan
    Michaela.Dungan@Pennmedicine.upenn.edu | 215-360-0833

• 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 are undergoing a colonoscopy or flexible sigmoidoscopy. Participants will provide a research stool sample prior to the procedure and research biopsies will be obtained from the colon during the procedure.

  • PI: Bryson Katona, MD, PhD
  • Contact: Michaela Dungan
    Michaela.Dungan@Pennmedicine.upenn.edu | 215-360-0833

• Preliminary Investigation of β-hydroxybutyrate Supplementation in Colorectal Cancer Prevention (BHB-CRC)
  The aim of this study is to assess the feasibility of β-hydroxybutyrate (BHB) supplementation in individuals who are undergoing a standard-of-care colonoscopy or flexible sigmoidoscopy in order to determine whether BHB supplementation is safe and tolerable. Additionally, this study will determine whether BHB supplementations increases serum BHB levels, and leads to transcription and protein expression changes in the colonic mucosa. BHB supplementation will be performed through oral administration of HVMN Ketone-IQ, a commercially available BHB supplement, with an active ingredient of R-1,3-Butanediol, which gets converted to BHB. Learn more

  • PI: Bryson Katona, MD, PhD
  • Contact: Michaela Dungan
    Michaela.Dungan@Pennmedicine.upenn.edu | 215-360-0833

• 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.

  • PI: Bryson Katona, MD, PhD
  • Contact: Marina Weber
    marina.weber@pennmedicine.upenn.edu | 215-615-7993

• Characterization of the Microbiome and Metabolome in Individuals with Colonic Polyposis
  The goal of this study is to better understand the mechanisms whereby polyps form in the colon through characterizing the microbiome (bacteria that live in the colon) and metabolome (byproducts that these bacteria make). Eligible patients include those with a history of 10 or more total prior colonic adenomas, with or without a genetic predisposition to polyp formation, as well as those without a significant history of colonic adenomas (two or less). Participants will provide a research stool sample prior to their colonoscopy/flexible sigmoidoscopy. In addition, research biopsies will be obtained during their procedure.

  • PI: Bryson Katona, MD, PhD
  • Contact: Marina Weber
    marina.weber@pennmedicine.upenn.edu | 215-615-7993

• Preliminary Evaluation of Screening for Pancreatic Cancer in Patients with Inherited Genetic Risk
  This study is a prospective, observational, case-control study evaluating the utility of endoscopic ultrasound or MRI for the identification of pre-neoplastic and neoplastic pancreatic lesions in patients at high risk for pancreatic cancer, specifically those with BRCA1, BRCA2, PALB2, and ATM mutations.

  • PI: Bryson Katona, MD, PhD
  • Contact: Daniel Clay
    daniel.clay@pennmedicine.upenn.edu | 215-360-0905

• The Cancer of the Pancreas Screening-5 (CAPS5) Study
  This is a multi-center study with the goal of determining the prevalence of pancreatic lesions, pancreatic fluid mutations and circulating pancreatic epithelial cells among 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 (BRCA1/2, FAMMM [p16/CDKN2A], PALB2, ATM, Lynch syndrome [MLH1, MSH2, MSH6, PMS1, EPCAM], or hereditary pancreatitis [PRSS1/2 or CTRC]). Participants will undergo annual monitoring of the pancreas, primarily through the use of endoscopic ultrasound. Learn more

  • PI: Bryson Katona, MD, PhD
  • Contact: Daniel Clay
    daniel.clay@pennmedicine.upenn.edu | 215-360-0905

• 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 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. Learn more

  • PI: Bryson Katona, MD, PhD
  • Contact: Daniel Clay
    daniel.clay@pennmedicine.upenn.edu | 215-360-0905

View the full list of clinical trials

• 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, 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.

  • PI: Bryson Katona, MD, PhD
  • Contact: Michaela Dungan
    Michaela.Dungan@Pennmedicine.upenn.edu | 215-360-0833

• CTNNA1 Familial Expansion Study (CAFÉ)
  The CTNNA1 Familial Expansion Study (CAFÉ) is an online international research registry looking for patients and their families to help expand our knowledge of the CTNNA1 gene. The purpose of this study is to follow people with CTNNA1 variants so that researchers can more clearly understand the cancer risks associated with this newly identified gene, which will help us better understand how to manage cancer risk in families with this gene. We hope to create an international registry of CTNNA1 carriers for long-term data collection which will help better define the cancer risks associated with CTNNA1 variants and will aid in managing cancer risks for affected families.

  • You can find more information at https://www.pennmedicine.org/CAFEStudy
  • Contact: cafestudy@pennmedicine.upenn.edu

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.

• PI: Bryson Katona, MD, PhD
• Contact: bryson.katona@pennmedicine.upenn.edu

Learn more about the Gastrointestinal Cancer and Polyposis Registry by downloading our guide and consent form