Cancer Gene MutationNCT04516083
Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation
An observational study of Cancer Gene Mutation and Lynch Syndrome, run by RWJ Barnabas Health at Jersey City Medical Center at 1 site in United States.
Trial summary
The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer education and genetic testing for various reasons such as lack of insurance and general… Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Cancer Gene Mutation, Lynch Syndrome, Endometrial Cancer
- What is being tested?
- Mismatch repair instability somatic and germline testing
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 21 Dec 2019to 30 Jun 2021
- How long will I take part?
- 2 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Study population: The population includes female patients of all ages and races who are from a low socioeconomic background defined by the american psychological association. These females usually reside in underserved area. All the patients are diagnosed with endometrial endometrioid adenocarcinoma via tissue biopsy.
Who may be able to join
- Underserved areas. Diagnosis of endometrial endometrioid carcinoma. Low socioeconomic status. Positive mismatch repair staining. All races. All ages. All cancer grades. All cancer stages .
Who cannot join
- Diagnosis of type 2 endometrial carcinoma. Cancer diagnosis other than Endometrial. No mismatch repair genes mutation. High socioeconomic status.
Trial locations and contacts
1 site in 1 country.
Noah Goldman, MD contact
United States1 site, 1 recruiting
- Recruiting
Jersey city medical center
Jersey City, New Jersey, 07302
Ariel Polonsky, MD, 551-227-6993, arielpolonskymd@gmail.com
About this study
Official title: Correlation Between Somatic Mismatch Repair Instability and Germline Mismatch Repair Instability, in Low Socioeconomic Background Population Diagnosed With Endometrial Endometrioid Adenocarcinoma
The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer education and genetic testing for various reasons such as lack of insurance and general accessibility.
The study concentrates on early diagnosis of Lynch syndrome. Lynch syndrome is usually diagnosed from a blood test resulting in a mutation of one of the mismatch repair genes. Those are MLH1, MSH2, MSH 6, PMS2. A mutation in one of these genes creates a mismatch repair instability,hence higher incidence of cancers in specific organ groups. Amongst these organs are the Uterus, Ovaries, Upper genitourinary system, Pancreas and GI system.
Read more
The most common endometrial carcinoma which is found in Lynch syndrome is of endometrioid histology. Most patients with known germline mismatch repair instability, have the same somatic mutation. Our study is looking into correlating somatic mutation to germline mutation.
By doing so, patients diagnosed with somatic mismatch repair instability will be also diagnosed with lynch syndrome without germline genetic testing.
Screening programs will be utilized earlier and preventive procedures offered.
Due to less access to educational programs, genetic counseling and testing in underserved areas, patients are sometimes lost to follow up. Our study seeks to prove high correlation between somatic and germline mutations and by doing so, patient will be diagnosed with Lynch syndrome straight after endometrial cancer staging. As a result, increased compliance will be expected and patients will be offered the recommended preventative surgeries and screening protocols.
- Being tested
- Mismatch repair instability somatic and germline testing
- Medical subject headings
- Colorectal Neoplasms, Hereditary Nonpolyposis, Endometrial Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Mismatch repair instability somatic and germline testingDiagnostic test
Each Endometrial Endometrioid adenocarcinoma is routinely stained for MMR mutation to seek for tumor genetic instability. If stains positive, the patient is called in for genetic blood testing to look for the same mutation in the germline.
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients who have a somatic mutation at the same time as a germline mutation
- Resected tissue during endometrial staging will be immunohistochemically stained for MMR mutation.
- Patient blood test will be checked for MMR gene mutation
- Linear regression curve will be constructed to evaluate the correlation between somatic and germline mutation.
Measured: Through study completion, an average of 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Aug 2020
- Study start21 Dec 2019
- Primary completion30 Dec 2020 (estimated)
- Study completion30 Jun 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Cancer Gene MutationStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- RWJ Barnabas Health at Jersey City Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04516083
- Sponsor's protocol ID
- 1272883
- Status last verified
- Aug 2020
- First submitted
- 3 Aug 2020
- Last updated
- 18 Aug 2020
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Chu MM, Liu SS, Tam KF, Ip PP, Cheung AN, Ngan HY. The Significance of Mismatch Repair Deficiency in Young Patients With Endometrial Cancer. Int J Gynecol Pathol. 2015 Sep;34(5):403-10. doi: 10.1097/PGP.0000000000000174.
PubMed 26262451Modica I, Soslow RA, Black D, Tornos C, Kauff N, Shia J. Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma. Am J Surg Pathol. 2007 May;31(5):744-51. doi: 10.1097/01.pas.0000213428.61374.06.
PubMed 17460459Kahn RM, Gordhandas S, Maddy BP, Baltich Nelson B, Askin G, Christos PJ, Caputo TA, Chapman-Davis E, Holcomb K, Frey MK. Universal endometrial cancer tumor typing: How much has immunohistochemistry, microsatellite instability, and MLH1 methylation improved the diagnosis of Lynch syndrome across the population? Cancer. 2019 Sep 15;125(18):3172-3183. doi: 10.1002/cncr.32203. Epub 2019 May 31.
PubMed 31150123
Study at a glance
From the registry record, last updated by the sponsor on 18 Aug 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Correlation Between Somatic Mismatch Repair Instability and Germline Mismatch Repair Instability, in Low Socioeconomic Background Population Diagnosed With Endometrial Endometrioid Adenocarcinoma
- ClinicalTrials.gov ID
- NCT04516083
- Acronym / sponsor ID
- 1272883
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- RWJ Barnabas Health at Jersey City Medical CenterUniversity, hospital or other
- Study start
- 21 Dec 2019 (actual)
- Primary completion
- 30 Dec 2020 (estimated)
- Study completion
- 30 Jun 2021 (estimated)
- First posted
- 17 Aug 2020 (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 objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer education and genetic testing for various reasons such as lack of insurance and general accessibility.
The study concentrates on early diagnosis of Lynch syndrome. Lynch syndrome is usually diagnosed from a blood test resulting in a mutation of one of the mismatch repair genes. Those are MLH1, MSH2, MSH 6, PMS2. A mutation in one of these genes creates a mismatch repair instability,hence higher incidence of cancers in specific organ groups. Amongst these organs are the Uterus, Ovaries, Upper genitourinary system, Pancreas and GI system.
The most common endometrial carcinoma which is found in Lynch syndrome is of endometrioid histology. Most patients with known germline mismatch repair instability, have the same somatic mutation. Our study is looking into correlating somatic mutation to germline mutation.
By doing so, patients diagnosed with somatic mismatch repair instability will be also diagnosed with lynch syndrome without germline genetic testing.
Screening programs will be utilized earlier and preventive procedures offered.
Due to less access to educational programs, genetic counseling and testing in underserved areas, patients are sometimes lost to follow up. Our study seeks to prove high correlation between somatic and germline mutations and by doing so, patient will be diagnosed with Lynch syndrome straight after endometrial cancer staging. As a result, increased compliance will be expected and patients will be offered the recommended preventative surgeries and screening protocols.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 2 Years
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The population includes female patients of all ages and races who are from a low socioeconomic background defined by the american psychological association. These females usually reside in underserved area. All the patients are diagnosed with endometrial endometrioid adenocarcinoma via tissue biopsy.
Key inclusion criteria (1 listed)
- Underserved areas. Diagnosis of endometrial endometrioid carcinoma. Low socioeconomic status. Positive mismatch repair staining. All races. All ages. All cancer grades. All cancer stages .
Key exclusion criteria (1 listed)
- Diagnosis of type 2 endometrial carcinoma. Cancer diagnosis other than Endometrial. No mismatch repair genes mutation. High socioeconomic status.
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 |
|---|---|---|
| Mismatch repair instability somatic and germline testingEach Endometrial Endometrioid adenocarcinoma is routinely stained for MMR mutation to seek for tumor genetic instability. If stains positive, the patient is called in for genetic blood testing to look for the same mutation in the germline. | Diagnostic test | – |
Primary outcome
Number of patients who have a somatic mutation at the same time as a germline mutation
Time frame: Through study completion, an average of 18 months
1. Resected tissue during endometrial staging will be immunohistochemically stained for MMR mutation. 2. Patient blood test will be checked for MMR gene mutation 3. Linear regression curve will be constructed to evaluate the correlation between somatic and germline mutation.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Aug 2020.
- Background: PubMed 26262451Chu MM, Liu SS, Tam KF, Ip PP, Cheung AN, Ngan HY. The Significance of Mismatch Repair Deficiency in Young Patients With Endometrial Cancer. Int J Gynecol Pathol. 2015 Sep;34(5):403-10. doi: 10.1097/PGP.0000000000000174.
- Background: PubMed 17460459Modica I, Soslow RA, Black D, Tornos C, Kauff N, Shia J. Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma. Am J Surg Pathol. 2007 May;31(5):744-51. doi: 10.1097/01.pas.0000213428.61374.06.
- Background: PubMed 31150123Kahn RM, Gordhandas S, Maddy BP, Baltich Nelson B, Askin G, Christos PJ, Caputo TA, Chapman-Davis E, Holcomb K, Frey MK. Universal endometrial cancer tumor typing: How much has immunohistochemistry, microsatellite instability, and MLH1 methylation improved the diagnosis of Lynch syndrome across the population? Cancer. 2019 Sep 15;125(18):3172-3183. doi: 10.1002/cncr.32203. Epub 2019 May 31.
- Individual participant dataSharing planned: Undecided
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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. This study is not recruiting at the moment.
Noah Goldman, MD contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cancer Gene Mutation and Lynch Syndrome, run by RWJ Barnabas Health at Jersey City Medical Center 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 1 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 18 Aug 2020. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ariel Polonsky, MD (5512276993, arielpolonskymd@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients who have a somatic mutation at the same time as a germline mutation (time frame: Through study completion, an average of 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04516083, which also lists 3 linked publications.
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 18 Aug 2020.