Clinical trial NCT05746182: Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms
Official title: Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Pancreatic Neuroendocrine Neoplasm
Keywords: Genetic Assay
Biomarkers
Lead sponsor: University of California, San Francisco
Sponsor class: OTHER
Collaborators: name: University of California Pancreatic Cancer Consortium (UCPCC)
First posted: 2023-02-27
Enrollment: 300
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: All participants receiving care at University of California participating locations with a new or existing diagnosis of PanNEN

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Rate of overall pathogenic germline mutations
timeFrame: Up to 2 years
Secondary outcomes:
measure: Rates of different types of pathogenic mutations
timeFrame: Up to 2 years
measure: Rates of different types of variants of uncertain significance (VUS)
timeFrame: Up to 2 years
measure: Rate of declination for participants offered testing.
timeFrame: Up to 2 years
measure: Rate of completion of testing
timeFrame: Up to 2 years
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: University of California, Los Angeles
state: California
city: San Diego
country: United States
facility: Univeristy of California, San Diego
state: California
city: San Francisco
country: United States
facility: University of California, San Francisco
state: California
Study officials:
affiliation: University of California, San Francisco
name: Emily Bergsland, MD
role: PRINCIPAL_INVESTIGATOR
References: