Evaluation of Multi-Cancer Early Detection Testing in a High-Risk Population: The INFORM Study

Dana-Farber Cancer Institute

Status: Enrolling

Conditions: Cancer Predisposition Syndrome; Predisposition, Genetic

Treatments: Other: GRAIL Galleri Test

Study type: Interventional

Funder types: Other

Identifiers

NCT06450171

24-070

Details and patient eligibility

About

The purpose of this research study is to evaluate the possible benefits and harms of screening with an investigational blood test designed to detect many types of cancer early.

The name of the screening blood test being studied is:

-GRAIL Galleri test

Full description

This is a prospective, interventional study to assess the use of the GRAIL's Galleri multi-cancer early detection (MCED) Test, an investigational blood test designed to detect many types of cancer, for participants that are considered at slightly higher than average risk of developing certain types of cancers. The test looks for small pieces of genetic material called deoxyribonucleic acid (DNA) in the blood that may indicate the presence of cancer.

The research study procedures include screening for eligibility, blood tests, questionnaires, and clinic visits.

Participation in this research study is expected to last up to 3 years.

It is expected that about 1,000 people will take part in this research study.

Enrollment: 1,000 estimated patients

Sex: All

Ages: 22+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria Group 1- Cancer Predisposition Syndrome:

• Age ≥ 22 for patients with TP53 germline pathogenic variants, age ≥ 35 for all other variants in cancer predisposing genes
• Germline genetic testing revealed pathogenic germline variants in cancer predisposing genes (list of genes typically tested listed in pre-screening document)
• Individuals with a clinically based diagnosis of a Cancer Predisposition Syndrome (examples, neurofibromatosis, Fanconi Anemia, Ataxia-Telangiectasia)

Inclusion Criteria Group 2 - Familial Risk:

• Age ≥ 45

• Adults with family history suggestive of elevated cancer risk as defined by any the criteria below, who do not fall into Group 1:

  • ≥ 1 first or second degree relative on same side of the family with:

    • Breast, colon, gastric, endometrial, kidney cancer at or before age 50
    • Triple negative breast cancer (any age)
    • Male breast cancer (any age)
    • Ovarian, pancreatic, sarcoma cancer (any age)
    • Neuroendocrine cancer or tumors (any age)
    • Metastatic prostate cancer (any age)
    • Multiple primary cancers (example bilateral breast cancer)

  • ≥ 2 first or second degree relative on same side of the family (any combination is acceptable) with breast or prostate cancer at any age

Exclusion Criteria:

• Individuals diagnosed with invasive malignancy within 3 years of enrollment
• Have had a blood-based multi-cancer screening test within last year
• Individuals with evidence of symptomatic or active cancer requiring active therapeutic intervention at the time of participation (hormone therapy for breast/prostate cancer is considered acceptable and will not preclude participation)
• Individuals in Group 2 whose family history of cancer was the result of a germline mutation in a cancer predisposing gene and who have tested negative for that same familial germline mutation
• Individuals in Group 2 whose family history of cancer is sex-specific and who is a different sex than the proband with cancer (e.g., a male with a family history of endometrial or ovarian cancer would not be eligible)
• Individuals in process of being evaluated for clinical suspicion of cancer
• Individuals who have undergone a cancer risk-reducing surgery for hereditary cancer risk (e.g., mastectomy)

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1,000 participants in 1 patient group

Galleri MCED Test

Experimental group

Description:

Participants will be enrolled and will complete: * Baseline questionnaires and blood test. * Post-test questionnaires. * Follow-up assessments for a negative GRAIL Galleri test include recommended cancer screenings and a follow up phone call with study staff 1 year after the GRAIL Galleri blood test. * Follow-up assessments for a positive GRAIL test may include clinic visits, lab tests with additional blood work-ups, biopsies, surgical procedures, or imaging assessments such as ultrasound, Computed Tomography (CT) scans, or an Magnetic Resonance Imaging (MRI) scans. * If cancer status is confirmed, participants will complete a post-diagnostic questionnaire.

Treatment:

Other: GRAIL Galleri Test