Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms

Recruiting

• Conditions: Pancreatic Neuroendocrine Neoplasm
• Interventions: Diagnostic Test: Hereditary Cancer Panel

• Registration Number: NCT05746182
• Lead Sponsor: University of California, San Francisco

Brief Summary

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)

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 Timeline

• Study First Submitted: 2023-02-17
• Study First Submitted QC: 2023-02-17
• Study First Posted: 2023-02-27
• Study Start: 2023-04-07
• Status Verified: 2024-12
• Last Update Submitted: 2025-01-06
• Last Update Posted: 2025-01-08
• Primary Completion: 2025-12-31
• Study Completion: 2025-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

1. Histologically confirmed PanNEN.

   a. The diagnostic biopsy may have been taken from any site (primary or metastatic).

2. New and existing PanNEN participants will be eligible (any grade, any stage, any age > 18 years).

3. Participants willing and able to comply with the study procedures.

Exclusion Criteria

1. Inability to provide informed consent.

2. For participants who have not had prior testing with a dedicated germline pane of at least 80 genes:

   1. Inability to speak/read a language supported by the germline testing station (GTS). The supported languages currently include English, Korean, Japanese, Vietnamese, Russian, Tagalog, Farsi, Spanish, Cantonese, Mandarin, and Arabic).
   2. Active hematologic malignancy.
   3. History of allogenic bone marrow transplant or stem cell transplant.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Participants with Pancreatic Neuroendocrine Neoplasms	Hereditary Cancer Panel	-

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
Rate of declination for participants offered testing.	Up to 2 years	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.
Rate of completion of testing	Up to 2 years	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.
Rates of different types of pathogenic mutations	Up to 2 years	The percentage of participants with each identified type of pathogenic, or likely pathogenic, will be reported with 95% confidence intervals
Rates of different types of variants of uncertain significance (VUS)	Up to 2 years	The percentage of participants with identified variants of uncertain significance will be reported with 95% confidence intervals.

Trial Locations

Locations (3)

University of California, Los Angeles; 🇺🇸 Los Angeles, California, United States

Univeristy of California, San Diego; 🇺🇸 San Diego, California, United States

University of California, San Francisco; 🇺🇸 San Francisco, California, United States