PanNEN: Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms

Sponsor

University of California, San Francisco (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT05746182

Collaborator

Univeristy of California Pancreatic Cancer Consortium (UCPCC) (Other)

300

Enrollment

Locations

Anticipated Duration (Months)

100

Patients Per Site

Patients Per Site Per Month

Study Details

Study Description

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)

Condition or Disease	Intervention/Treatment	Phase
Pancreatic Neuroendocrine Neoplasm	Diagnostic Test: Hereditary Cancer Panel

Detailed Description

PRIMARY OBJECTIVE:

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

SECONDARY OBJECTIVES:

To assess the rates of different types of germline mutations in patients PanNEN.
To assess the rates of different types of variants of uncertain significance in patients with PanNEN.
To estimate the rate of completion of genetic testing in patients who are offered prospective germline testing.

EXPLORATORY OBJECTIVES:

To examine attitudes of patients who have completed germline testing.
To explore reasons for declining germline testing.
In patients with repeat germline testing, compare the frequency of germline alteration between tests.
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 Design

Study Type:

Observational

Anticipated Enrollment :

300 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms

Anticipated Study Start Date :

Apr 1, 2023

Anticipated Primary Completion Date :

Dec 31, 2025

Anticipated Study Completion Date :

Dec 31, 2025

Arms and Interventions

Arm	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

Arm

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

Outcome Measures

Primary Outcome Measures

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

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.
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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

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).

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of California, Los Angeles	Los Angeles	California	United States	90095
2	Univeristy of California, San Diego	San Diego	California	United States	92093
3	University of California, San Francisco	San Francisco	California	United States	94143