Cancer Predisposition SyndromeNCT06450171
Evaluation of Multi-Cancer Early Detection Testing in a High-Risk Population: The INFORM Study
A study testing GRAIL Galleri Test in people with Cancer Predisposition Syndrome and Predisposition, Genetic, run by Dana-Farber Cancer Institute at 1 site in United States.
Trial 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 Read more about this study
- Who is it for?
- Ages 22 years and olderHealthy volunteers can take part
- Conditions the study is for
- Cancer Predisposition Syndrome, Predisposition, Genetic
- What is being tested?
- GRAIL Galleri Test
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Sep 2024to 31 Jan 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 22 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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:
Show all 14Show fewer
- 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
Who cannot join
- 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 locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Dana-Farber Cancer Institute
Boston, Massachusetts, 02215
Elizabeth ODonnell, MD, 587-215-2361, elizabeth_odonnell@dfci.harvard.edu
Elizabeth ODonnell, MD
About this study
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
Read the 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.
- Being tested
- GRAIL Galleri Test
- Keywords
- Cancer Predisposition Syndrome, Predisposition, Genetic
- Medical subject headings
- Genetic Predisposition to Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GRAIL Galleri TestOther
A multi-cancer early detection (MCED) blood test.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: GRAIL Galleri Test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cancer Detection Rate
Descriptive statistics will be used to summarize the number and types of cancers diagnosed by GRAIL Galleri MCED testing.
Measured: Up to 2 years
Secondary outcomes (9)
Stage of Invasive Cancer Diagnosis
Descriptive statistics will be used to summarize the stages of invasive cancer that are diagnosed by GRAIL Galleri MCED testing and assessed by medical record review.
Measured: Up to 2 years
Positive Predictive Value At 12 Months
Positive Predictive Value is defined as the proportion of participants with cancer diagnosis out of all participants with "signal detected" on GRAIL Galleri MCED test results.
Measured: At 12 months
Positive Predictive Value at 24 Months
Positive Predictive Value is defined as the proportion of participants with cancer diagnosis out of all participants with "signal detected" on GRAIL Galleri MCED test results.
Measured: At 24 months
Time to Diagnostic Resolution
Defined as the time required to achieve diagnostic resolution following a "signal detected" GRAIL Galleri MCED test result.
Measured: 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
Per participant the count of the number and types of diagnostic tests required to achieve diagnostic resolution following a "signal detected" GRAIL Galleri MCED test result.
Measured: Up to 24 months
Change in Participant Anxiety
Changes in anxiety following the GRAIL Galleri MCED test result and assessed by the Patient-Reported Outcome Measurement Information System (PROMIS) Emotional Distress Anxiety - Short Form 6a, which is a 6 item survey that is rated on a 5-point Likert scale with answers ranging from "Never" to "Always". The range of scoring is from 6 to 30 with higher scores indicating greater severity of anxiety.
Measured: Up to 24 months
Change in Participant Health-related Quality of Life
Changes in health-related quality of life following the GRAIL Galleri MCED test result and assessed by PROMIS Scale v1.2 - Global Health, a 10 item survey that is rated on a 5-point Likert scale with answers ranging from "Excellent/Completely/Never/None" to "Poor/Not at all/Always/Very Severe" and includes a pain average question rated on a scale of 0 "No Pain" to 10 "Worst Pain Imaginable." The range of scoring is from 9 to 45 with higher scores indicating higher quality of life.
Measured: Up to 24 months
Cost of Follow-up Testing
Defined as the dollar cost, per participant, of follow-up testing to achieve diagnostic resolution following a "signal detected" GRAIL Galleri MCED test result.
Measured: Up to 24 months
Institutional Reimbursement of Follow-up Testing
Defined as the dollar cost, per participant, of the institutional reimbursement of follow-up testing to achieve diagnostic resolution following a "signal detected" GRAIL Galleri MCED test result.
Measured: Up to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2024
- Study start27 Sep 2024
- Primary completion31 Jan 2027 (estimated)
- Study completion31 Jan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cancer Predisposition SyndromeStudies of the same condition, open and under way.
- More trials run by Dana-Farber Cancer InstituteThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Dana-Farber Cancer Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Elizabeth ODonnell, Dana-Farber Cancer Institute
- Investigators
- Elizabeth ODonnell, MD, Principal investigator, Dana-Farber Cancer Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06450171
- Sponsor's protocol ID
- 24-070
- Status last verified
- Jan 2026
- First submitted
- 4 Jun 2024
- Last updated
- 20 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The Dana-Farber / Harvard Cancer Center encourages and supports the responsible and ethical sharing of data from clinical trials. De-identified participant data from the final research dataset used in the published manuscript may only be shared under the terms of a Data Use Agreement. Requests may be directed to: \[contact information for Sponsor Investigator or designee\]. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.
Study at a glance
From the registry record, last updated by the sponsor on 20 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Multi-Cancer Early Detection Testing in a High-Risk Population: The INFORM Study
- ClinicalTrials.gov ID
- NCT06450171
- Acronym / sponsor ID
- 24-070
- Keywords
- Cancer Predisposition Syndrome, Predisposition, Genetic
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Dana-Farber Cancer InstituteUniversity, hospital or other
- Study start
- 27 Sep 2024 (actual)
- Primary completion
- 31 Jan 2027 (estimated)
- Study completion
- 31 Jan 2028 (estimated)
- First posted
- 10 Jun 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Galleri MCED Test | Experimental | Other: GRAIL Galleri TestParticipants 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. |
Who may qualify
- Ages
- 22 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (14 listed)
- 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:
Key exclusion criteria (7 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| GRAIL Galleri TestA multi-cancer early detection (MCED) blood test. | Other | Galleri MCED Test |
Primary outcome
Cancer Detection Rate
Time frame: Up to 2 years
Descriptive statistics will be used to summarize the number and types of cancers diagnosed by GRAIL Galleri MCED testing.
9 secondary outcomes
Stage of Invasive Cancer Diagnosis
Time frame: Up to 2 years
Positive Predictive Value At 12 Months
Time frame: At 12 months
Positive Predictive Value at 24 Months
Time frame: At 24 months
Time to Diagnostic Resolution
Time frame: 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
Time frame: Up to 24 months
Change in Participant Anxiety
Time frame: Up to 24 months
Change in Participant Health-related Quality of Life
Time frame: Up to 24 months
Cost of Follow-up Testing
Time frame: Up to 24 months
Institutional Reimbursement of Follow-up Testing
Time frame: Up to 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Jan 2026.
- Individual participant dataSharing planned: Yes. The Dana-Farber / Harvard Cancer Center encourages and supports the responsible and ethical sharing of data from clinical trials. De-identified participant data from the final research dataset used in the published manuscript may only be shared under the terms of a Data Use Agreement. Requests may be directed to: [contact information for Sponsor Investigator or designee]. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Elizabeth ODonnell, MD principal investigator
Dana-Farber Cancer Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing GRAIL Galleri Test in people with Cancer Predisposition Syndrome and Predisposition, Genetic, run by Dana-Farber Cancer Institute at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Elizabeth ODonnell, MD (617-762-2334, dfciprevention@mgb.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cancer Detection Rate (time frame: Up to 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Jan 2026.