Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms (PanNEN)

This is a prospective observational multi-center pilot study of germline testing for participants receiving care at University of California participating locations with a new or existing diagnosis of Pancreatic Neuroendocrine Neoplasms (PanNEN). This protocol is an extension of existing Genetic Testing Station efforts at University of California, San Francisco (UCSF)

Study Overview

• Status: Recruiting
• Conditions: Pancreatic Neuroendocrine Neoplasm
• Intervention / Treatment: Diagnostic test: Hereditary Cancer Panel

Detailed Description

PRIMARY OBJECTIVE:

I. To assess the frequency of germline mutations in patients with PanNEN.

SECONDARY OBJECTIVES:

I. To assess the rates of different types of germline mutations in patients PanNEN.

II. To assess the rates of different types of variants of uncertain significance in patients with PanNEN.

III. To estimate the rate of completion of genetic testing in patients who are offered prospective germline testing.

EXPLORATORY OBJECTIVES:

I. To examine attitudes of patients who have completed germline testing.

II. To explore reasons for declining germline testing.

III. In patients with repeat germline testing, compare the frequency of germline alteration between tests.

IV. Assess the relationship between germline pathogenic variants and somatic mutations in PanNEN.

OUTLINE:

Potential eligible participants will be identified via chart review and invited to consent to the study. Study participants who agree to prospective testing and have not had previous large panel germline testing will watch an informational video about germline testing and be offered testing with University of California, San Francisco's (UCSF) Expanded Hereditary Cancer Panel. Study participants who decline germline testing will be asked to answer a one-question Declination Survey. Results will be shared with participants and their providers per the standard of practice at each participating study site. All participants who decided to receive germline testing will be asked to complete a decision survey.

• Study Type: Observational
• Enrollment (Anticipated): 300

Contacts and Locations

Study Locations

• United States
  • California
    • Los Angeles, California, United States, 90095
      • Not yet recruiting
      • University of California, Los Angeles
      • Principal Investigator: Randy Hecht, MD
    • San Diego, California, United States, 92093
      • Not yet recruiting
      • Univeristy of California, San Diego
      • Principal Investigator: Paul Fanta, MD
    • San Francisco, California, United States, 94143
      • Recruiting
      • University of California, San Francisco
      • Principal Investigator: Emily Bergsland, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

All participants receiving care at University of California participating locations with a new or existing diagnosis of PanNEN

Description

Inclusion Criteria:

• Histologically confirmed PanNEN.
• New and existing PanNEN participants will be eligible for testing (any grade, any stage, any age > 18 years).
• Participants willing and able to comply with the study procedures.

Exclusion Criteria:

• Inability to provide informed consent.
• For participants without adequate prior germline testing: Inability to speak/read the languages supported by the genetic testing station (GTS) --This is evolving, but currently includes English, Spanish, Farsi, Russian, or with Chinese subtitles (see most recent version of the consent for updated list).

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Participants with Pancreatic Neuroendocrine Neoplasms	Diagnostic test: Hereditary Cancer Panel; UCSF's Internal Clinical Laboratory Improvement Amendments of 1988 (CLIA)-certified Expanded Hereditary Cancer Panel will be employed which measures a minimum 88 genes; Other Names: University of California, San Francisco's (UCSF) Expanded Hereditary Cancer Panel; Germline Testing

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Rate of overall pathogenic germline mutations	The overall percentage of participants with pathogenic, or likely pathogenic germline mutations will be reported with 95% confidence intervals	Up to 2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Rates of different types of pathogenic mutations	The percentage of participants with each identified type of pathogenic, or likely pathogenic, will be reported with 95% confidence intervals	Up to 2 years
Rates of different types of variants of uncertain significance (VUS)	The percentage of participants with identified variants of uncertain significance will be reported with 95% confidence intervals.	Up to 2 years
Rate of declination for participants offered testing.	Participants who decline genetic testing but agree to participate in other study procedures will complete a Declination Survey which consists of one questions asking the reason for the decision to decline germline testing.	Up to 2 years
Rate of completion of testing	The rate of study completion defined as the percentage of participants who agree to testing, and complete all study procedures through return of results and meeting with genetic counselor (as appropriate) will be reported.	Up to 2 years

Collaborators and Investigators

• Sponsor: University of California, San Francisco
• Collaborators: University of California Pancreatic Cancer Consortium (UCPCC)
• Investigators: Principal Investigator: Emily Bergsland, MD, University of California, San Francisco

Study record dates

Study Major Dates

• Study Start (Actual): April 7, 2023
• Primary Completion (Anticipated): December 31, 2025
• Study Completion (Anticipated): December 31, 2025

Study Registration Dates

• First Submitted: February 17, 2023
• First Submitted That Met QC Criteria: February 17, 2023
• First Posted (Actual): February 27, 2023

Study Record Updates

• Last Update Posted (Actual): April 18, 2023
• Last Update Submitted That Met QC Criteria: April 12, 2023
• Last Verified: April 1, 2023

More Information

Terms related to this study

• Keywords: Biomarkers; Genetic Assay
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Neoplasms by Histologic Type; Neoplasms by Site; Neoplasms, Glandular and Epithelial; Endocrine System Diseases; Disease Attributes; Digestive System Neoplasms; Endocrine Gland Neoplasms; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Pancreatic Diseases; Adenoma; Pancreatic Neoplasms; Neoplasms; Disease Susceptibility; Neuroendocrine Tumors; Genetic Predisposition to Disease; Adenoma, Islet Cell
• Other Study ID Numbers: 224513; NCI-2023-01566 (Registry Identifier: NCI Clinical Trials Reporting Program (CTRP))

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No