Clinical trial NCT06450171: Evaluation of Multi-Cancer Early Detection Testing in a High-Risk Population: The INFORM Study
Official title: Evaluation of Multi-Cancer Early Detection Testing in a High-Risk Population: The INFORM Study
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Cancer Predisposition Syndrome
Predisposition, Genetic
Keywords: Cancer Predisposition Syndrome
Predisposition, Genetic
Lead sponsor: Dana-Farber Cancer Institute
Sponsor class: OTHER
First posted: 2024-06-10
Enrollment: 1000
Sex: ALL
Minimum age (years): 22
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SCREENING

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

Detailed 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.

Eligibility 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)

Primary outcomes:
measure: Cancer Detection Rate
timeFrame: Up to 2 years
Secondary outcomes:
measure: Stage of Invasive Cancer Diagnosis
timeFrame: Up to 2 years
measure: Positive Predictive Value At 12 Months
timeFrame: At 12 months
measure: Positive Predictive Value at 24 Months
timeFrame: At 24 months
measure: Time to Diagnostic Resolution
timeFrame: Calculated from the date of return of screening results (up to 4 weeks from baseline) until up to 24 months post screening
measure: Test Type Utilization to Diagnostic Resolution
timeFrame: Up to 24 months
measure: Change in Participant Anxiety
timeFrame: Up to 24 months
measure: Change in Participant Health-related Quality of Life
timeFrame: Up to 24 months
measure: Cost of Follow-up Testing
timeFrame: Up to 24 months
measure: Institutional Reimbursement of Follow-up Testing
timeFrame: Up to 24 months
Other outcomes:
Locations:
city: Boston
country: United States
facility: Dana-Farber Cancer Institute
state: Massachusetts
Study officials:
affiliation: Dana-Farber Cancer Institute
name: Elizabeth ODonnell, MD
role: PRINCIPAL_INVESTIGATOR
References: