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

NCT06450171 | Recruiting

• 1 other identifier: 24-070
• Study Type: interventional
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Cancer Predisposition Syndrome; Predisposition, Genetic

Keywords

Cancer Predisposition Syndrome; Predisposition, Genetic

Outcome Measures

Primary Outcomes (1)

• Cancer Detection Rate

  Descriptive statistics will be used to summarize the number and types of cancers diagnosed by GRAIL Galleri MCED testing.

  Up to 2 years

Secondary Outcomes (9)

• Stage of Invasive Cancer Diagnosis

  Up to 2 years

• Positive Predictive Value At 12 Months

  At 12 months

• Positive Predictive Value at 24 Months

  At 24 months

• Time to Diagnostic Resolution

  Calculated from the date of return of screening results (up to 4 weeks from baseline) until up to 24 months post screening

• Test Type Utilization to Diagnostic Resolution

  Up to 24 months

Study Arms (1)

Galleri MCED Test

EXPERIMENTAL

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.

Other: GRAIL Galleri Test

Interventions

GRAIL Galleri Test OTHER

A multi-cancer early detection (MCED) blood test.

Galleri MCED Test

Eligibility Criteria

• Age: 22 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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)
• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Dana-Farber Cancer Institute: lead

Study Sites (1)

Dana-Farber Cancer Institute

Boston, Massachusetts, 02215, United States

RECRUITING

MeSH Terms

Conditions

Genetic Predisposition to Disease

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Elizabeth ODonnell, MD

  Dana-Farber Cancer Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elizabeth ODonnell, MD

CONTACT

617-762-2334; dfciprevention@mgb.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Sponsor Investigator

Study Record Dates

• First Submitted: June 4, 2024
• First Posted: June 10, 2024
• Study Start: September 27, 2024
• Primary Completion (Estimated): January 31, 2027
• Study Completion (Estimated): January 31, 2028
• Last Updated: January 20, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP
• Time Frame: Data can be shared no earlier than 1 year following the date of publication
• Access Criteria: Contact the Belfer Office for Dana-Farber Innovations (BODFI) at innovation@dfci.harvard.edu

Locations

US (1)