Lynch SyndromeLYNX-EYENCT06708429
Lynch Syndrome X-Talk of Enteral Mucosa With Immune System
An observational study of Lynch Syndrome and Lynch Syndrome I, run by San Raffaele University at 5 sites in 2 countries.
Trial summary
Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II
- What is being tested?
- LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)
- How many people
- 300 participants
- Where
- 5 sitesin 2 countries
- Study dates
- 1 Jun 2023to 1 Jun 2034
- Phase
- Observational
- 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 18 years and older
- All sexes
- Adult, Older adult
Study population: This study will enroll patients with and without Lynch syndrome, with and without colorectal cancer or colorectal adenomas.
Who may be able to join
- Age ≥18 years
- All sexes eligible
- Established diagnosis of Lynch syndrome performed as part of clinical practice, with a germline pathogenic/likely pathogenic variant in one of the following genes: MLH1, MSH2, MSH6, PMS2, and EpCAM
- Subjects with Lynch syndrome undergoing surveillance gastrointestinal endoscopy and/or surgery according to clinical practice
- Fertile patients (both males and females) are eligible
- Lactating women are eligible
Show all 17Show fewer
- Inclusion Criteria (for participants without Lynch syndrome):
- Age ≥18 years
- All sexes eligible
- Patients with sporadic colorectal lesions, including colorectal cancer and colorectal adenomas
- Healthy controls without colorectal cancer or adenomas undergoing lower gastrointestinal endoscopy for abdominal pain
- PREMM5 < 2.5 [PREMM5 is an online, free-to-use, clinical prediction algorithm that estimates the cumulative probability of an individual carrying a germline mutation in the mismatch repair genes responsible for Lynch syndrome].
- Exclusion Criteria (for participants with or without Lynch syndrome):
- Age < 18 years;
- Diseases that are known to predispose to colorectal cancer (personal past or recent history of inflammatory bowel disease);
- Patients unable/unwilling to provide consent;
- Pregnancy
Who cannot join
None listed.
Trial locations and contacts
5 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
5 sites in 2 countries
Italy4 sites, 4 recruiting
- Recruiting
Chirurgia Generale, Azienda Ospedaliero Universitaria di Cagliari
Cagliari
Angelo Restivo, MD
Giulia Anna Maria Luigia Costanzo
- Recruiting
Gastronterology and Gastrointestinal Endoscopy Unit, IRCCS San Raffaele Hospital
Milan, Lombardy, 20132
Giulia Martina Cavestro, MD, PhD, cavestro.giuliamartina@hsr.it
Alessandro Mannucci, MD
- Recruiting
Dipartimento di Chirurgia Oncologica e Dipartimento di Oncologia Sperimentale Istituto Nazionale Tumori
Milan, MI
Marco Vitellaro, MD
Elena Daveri
- Recruiting
Dipartimento di controllo qualità e rischio chimico biologico, AOOR Villa Sofia Cervello
Palermo, PM
Francesca Di Gaudio, MD
United States1 site, 1 recruiting
- Recruiting
Beckman Research Institute at City of Hope
Monrovia, California, 91016
Ajay Goel, PhD, AJGOEL@COH.ORG
About this study
Official title: Impact of Immune-surveillance on the Development of Colorectal Cancer in Patients With Lynch Syndrome
Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central nervous system, skin, among others). It is caused by a germline mutation in one of four DNA mismatch repair genes or a terminal deletion of the MSH2-adjacent gene EpCAM.
Despite adherence to cancer surveillance programs, many patients still develop colorectal cancer and endometrial cancer. The Prospective Lynch Syndrome Database (PLSD) suggests that more frequent surveillance intervals do not significantly improve cancer risk reduction. The PLSD also revealed that the incidence of colorectal cancer in MLH1 and MSH2 carriers was even higher than previously expected, reaching as high as 41-36% among MLH1 carriers, regardless of ethnic background. The development of colorectal cancer despite surveillance is an unresolved question. Therefore, there is an unmet need for effective cancer prevention strategies.
Read the detailed description
The risk of developing colorectal cancer in individuals with Lynch syndrome remains high despite endoscopic surveillance.
In Lynch Syndrome, the cancer-formation process is characterized by the development of immunogenic neo-antigens in the mucosa. These neoantigens, called frame-shift peptides, can be recognized by the adaptive immune systems, and trigger the formation of antibodies against them (termed anti-frame-shift peptides antibodies). Anti-frame-shift peptide antibodies have been reported in some Lynch syndrome patients (defined dichotomously as the presence vs absence of anti-frame-shift peptide antibodies). This study hypothesizes that anti-frame-shift peptide antibodies represent an early biomarker of cancer development in Lynch syndrome. These anti-frame-shift peptide antibodies may be used to identify early patients at the highest risk of developing colorectal cancer. All studies on anti-frame-shift peptide antibodies have had a cross-sectional design, while a retro-prospective design would be desirable to understand the interaction between the mucosa and the mucosa-associated immune system. There is also limited evidence that individuals with Lynch syndrome develop mismatch repair-deficient crypts before colorectal cancer development. The development of interval colorectal cancers may require specific biological processes. Understanding the biological processes underlying these interval colorectal cancers would help define targets of innovative therapies to prevent colorectal cancer (including but not limited to chemoprevention strategies and cancer vaccines). The interactions between the mucosa immune surveillance and the colonic epithelium are the cornerstone to answer such questions. Finally, the development of gastric cancer via non-canonical pathways (non-Correa, non-HPylori) demands a better understanding of the pathogenesis in individuals with Lynch syndrome.
MicroRNA (miRNA) expression has been shown to have diagnostic, prognostic, and therapeutic potential. While they offer high detection sensitivity, the heterogeneity limits their detection accuracy. Exosomes are excreted by cancer cells and possess specific exosomal miRNA signatures. Since circulating cell-free miRNAs offer excellent sensitivity but may suffer from inadequate specificity, while exosomal miRNAs are highly tissue-specific but might lack sensitivity, a combination of these biomarkers could offer an optimal combination of sensitivity and specificity. 98.5% of the total DNA is non-coding regions with roles in gene regulation, alternative splicing, interaction with transcription factors, and sequences capable of moving around the genome and promoting carcinogenesis. The understanding of non-coding DNA seems to be important in cancer early diagnosis.
Lynch syndrome-associated colorectal cancers are high immunogenic lesions with abundant lymphocyte infiltration. This study aims to develop an extensive profile of the immunosuppressive and regulatory cellular population in blood and tumor sites to identify patients with higher risks of cancer development.
Recent data have demonstrated the presence of intratumor bacteria in both cancer and immune cells. Therefore, this study also aims to analyze in colonic biopsies from Lynch syndrome patients with- and without tumors the presence of microbiota as an early signature for carcinogenesis.
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, Lynch Syndrome I (Site-specific Colonic Cancer), HNPCC, HNPCC Gene Mutation
- Being tested
- LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)
- Keywords
- Colorectal cancer, Endometrial cancer, Lynch syndrome-associated cancer, Surveillance, Cancer surveillance, Immune profile, Immune escape, Mismatch repair deficiency, Microbiota, Liquid biopsy, MicroRNA, Transcriptomic, Frame shift peptides, MLH1, MSH2, EpCAM, MSH6, PMS2, Hair matrix
- Medical subject headings
- Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch Syndrome II, Lynch syndrome I (site-specific colonic cancer), Neoplastic Syndromes, Hereditary, Colorectal Neoplasms, Endometrial Neoplasms, Turcot syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)Diagnostic test
A combination of blood-based, mucosal-based, and hair-based analyses that evaluate the presence and the expression of:
- a set of microRNAs (blood)
- antibodies anti-frame shift peptides (blood)
- mucosal-resident bacteria (healthy mucosa and cancer)
- environmental exposure to potential carcinogens (hair matrix)
| Study group | Role | What they receive |
|---|---|---|
| Lynch syndrome (MLH1), without colorectal cancer and without advanced adenomas | A cohort of individuals with a germline pathogenic variant in the MLH1 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Lynch syndrome (MLH1), with colorectal cancer or advanced adenomas | A cohort of individuals with a germline pathogenic variant in the MLH1 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Lynch syndrome (MSH2), without colorectal cancer and without advanced adenomas | A cohort of individuals with a germline pathogenic variant in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Lynch syndrome (MSH2), with colorectal cancer or advanced adenomas | A cohort of individuals with a germline pathogenic variant in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Lynch syndrome (MSH6, without colorectal cancer and without advanced adenomas | A cohort of individuals with a germline pathogenic variant in the MSH6 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Lynch syndrome (MSH6), with colorectal cancer or advanced adenomas | A cohort of individuals with a germline pathogenic variant in the MSH6 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Lynch syndrome (PMS2), without colorectal cancer and without advanced adenomas | A cohort of individuals with a germline pathogenic variant in the PMS2 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Lynch syndrome (PMS2), with colorectal cancer or advanced adenomas | A cohort of individuals with a germline pathogenic variant in the PMS2 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Lynch syndrome (MSH2, exon 8 deletion), without colorectal cancer and without advanced adenomas | A cohort of individuals with a germline pathogenic exon 8 deletion in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Lynch syndrome (MSH2, exon 8 deletion), with colorectal cancer or advanced adenomas | A cohort of individuals with a germline pathogenic exon 8 deletion in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Non-Lynch syndrome, with colorectal cancer | A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to have colorectal cancer at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Non-Lynch syndrome, with high-risk adenomas | A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to have high-risk adenomas at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Non-Lynch syndrome, with low-risk adenomas | A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to have low-risk adenomas at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) | |
| Non-Lynch syndrome, without colorectal cancer and without colorectal adenomas | A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation Receives: Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Sensitivity
True positive rate: the probability of a positive test result, conditioned on the individual truly being positive
Measured: Through study completion, an average of 1 year
Secondary outcomes (6)
Specificity
True negative rate: the probability of a negative test result, conditioned on the individual truly being negative
Measured: Through study completion, an average of 1 year
Proportion of correct predictions (true positives and true negatives) among the total number of cases (i.e., accuracy)
A measure of trueness: proportion of correct predictions (both true positives and true negatives) among the total number of cases examined
Measured: Through study completion, an average of 1 year
Prevalence of anti-frame-shift peptide antibodies positivity in blood sample
The proportion of individuals who have detectable levels of antibodies against frame shift peptides in their blood, conditioned on the individual truly being positive
Measured: Through study completion, an average of 1 year
Tumor microbiome analysis
A comprehensive analysis of the tumor microbiome to identify high-risk patients for colorectal cancer onset
Measured: Through study completion, an average of 1 year
Immuno-environmental tumor signature
A comprehensive evaluation of the differential expression of immunosuppressive myeloid-related signatures in colorectal lesions compared to healthy mucosa of patients with Lynch syndrome.
A comprehensive evaluation of the differential expression of immunosuppressive myeloid-related signatures in the blood of individuals with Lynch syndrome, with vs. without colorectal cancer
Measured: Through study completion, an average of 1 year
Exposure analysis
A comprehensive evaluation of the environmental exposure analysis on the hair matrix of individuals with Lynch syndrome, with vs. without colorectal cancer
Measured: Through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Nov 2024
- Study start1 Jun 2023
- Primary completion1 Jun 2033 (estimated)
- Study completion1 Jun 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (24)Papers the sponsor has linked to this study.
- Other trials for Lynch SyndromeStudies 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
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- San Raffaele University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Giulia Martina Cavestro, MD, PhD, Principal investigator, IRCCS San Raffaele Scientific Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06708429
- Sponsor's protocol ID
- LYNX EYE 2023
- Acronym
- LYNX-EYE
- Status last verified
- Apr 2026
- First submitted
- 25 Nov 2024
- Last updated
- 24 Apr 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Data collected for the study will be made available to others, including de-identified participant data, at publication, via a signed data access agreement and at the discretion of the investigators' approval of the proposed use of such data.
Publications
Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP. Milestones of Lynch syndrome: 1895-2015. Nat Rev Cancer. 2015 Mar;15(3):181-94. doi: 10.1038/nrc3878. Epub 2015 Feb 12.
PubMed 25673086Win AK, Jenkins MA, Dowty JG, Antoniou AC, Lee A, Giles GG, Buchanan DD, Clendenning M, Rosty C, Ahnen DJ, Thibodeau SN, Casey G, Gallinger S, Le Marchand L, Haile RW, Potter JD, Zheng Y, Lindor NM, Newcomb PA, Hopper JL, MacInnis RJ. Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Cancer Epidemiol Biomarkers Prev. 2017 Mar;26(3):404-412. doi: 10.1158/1055-9965.EPI-16-0693. Epub 2016 Oct 31.
PubMed 27799157Haraldsdottir S, Rafnar T, Frankel WL, Einarsdottir S, Sigurdsson A, Hampel H, Snaebjornsson P, Masson G, Weng D, Arngrimsson R, Kehr B, Yilmaz A, Haraldsson S, Sulem P, Stefansson T, Shields PG, Sigurdsson F, Bekaii-Saab T, Moller PH, Steinarsdottir M, Alexiusdottir K, Hitchins M, Pritchard CC, de la Chapelle A, Jonasson JG, Goldberg RM, Stefansson K. Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755.
PubMed 28466842Engel C, Vasen HF, Seppala T, Aretz S, Bigirwamungu-Bargeman M, de Boer SY, Bucksch K, Buttner R, Holinski-Feder E, Holzapfel S, Huneburg R, Jacobs MAJM, Jarvinen H, Kloor M, von Knebel Doeberitz M, Koornstra JJ, van Kouwen M, Langers AM, van de Meeberg PC, Morak M, Moslein G, Nagengast FM, Pylvanainen K, Rahner N, Renkonen-Sinisalo L, Sanduleanu S, Schackert HK, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vecht J, Verhulst ML, de Vos Tot Nederveen Cappel W, Zachariae S, Mecklin JP, Loeffler M; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry. No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies. Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29.
PubMed 30063918Moller P, Seppala T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rodland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Sampson JR, Capella G, Mecklin JP, Moslein G; Mallorca Group (http://mallorca-group.eu). Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. 2017 Mar;66(3):464-472. doi: 10.1136/gutjnl-2015-309675. Epub 2015 Dec 9.
PubMed 26657901Seppala T, Pylvanainen K, Evans DG, Jarvinen H, Renkonen-Sinisalo L, Bernstein I, Holinski-Feder E, Sala P, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rodland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Genuardi M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Frayling IM, Plazzer JP, Sampson JR, Capella G, Moslein G, Mecklin JP, Moller P; Mallorca Group. Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report. Hered Cancer Clin Pract. 2017 Oct 10;15:18. doi: 10.1186/s13053-017-0078-5. eCollection 2017.
PubMed 29046738Mecklin JP, Aarnio M, Laara E, Kairaluoma MV, Pylvanainen K, Peltomaki P, Aaltonen LA, Jarvinen HJ. Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome. Gastroenterology. 2007 Oct;133(4):1093-8. doi: 10.1053/j.gastro.2007.08.019. Epub 2007 Aug 14.
PubMed 17919485Vasen HF, Abdirahman M, Brohet R, Langers AM, Kleibeuker JH, van Kouwen M, Koornstra JJ, Boot H, Cats A, Dekker E, Sanduleanu S, Poley JW, Hardwick JC, de Vos Tot Nederveen Cappel WH, van der Meulen-de Jong AE, Tan TG, Jacobs MA, Mohamed FL, de Boer SY, van de Meeberg PC, Verhulst ML, Salemans JM, van Bentem N, Westerveld BD, Vecht J, Nagengast FM. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology. 2010 Jun;138(7):2300-6. doi: 10.1053/j.gastro.2010.02.053. Epub 2010 Mar 2.
PubMed 20206180Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, De La Chapelle A, Mecklin JP. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000 May;118(5):829-34. doi: 10.1016/s0016-5085(00)70168-5.
PubMed 10784581Engel C, Rahner N, Schulmann K, Holinski-Feder E, Goecke TO, Schackert HK, Kloor M, Steinke V, Vogelsang H, Moslein G, Gorgens H, Dechant S, von Knebel Doeberitz M, Ruschoff J, Friedrichs N, Buttner R, Loeffler M, Propping P, Schmiegel W; German HNPCC Consortium. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol. 2010 Feb;8(2):174-82. doi: 10.1016/j.cgh.2009.10.003. Epub 2009 Oct 14.
PubMed 19835992Ahadova A, von Knebel Doeberitz M, Blaker H, Kloor M. CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome. Fam Cancer. 2016 Oct;15(4):579-86. doi: 10.1007/s10689-016-9899-z.
PubMed 26960970Chambuso R, Kaambo E, Rebello G, Ramesar R. Correspondence on "Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database" by Dominguez-Valentin et al. Genet Med. 2022 May;24(5):1148-1150. doi: 10.1016/j.gim.2022.01.006. Epub 2022 Feb 12. No abstract available.
PubMed 35168886Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, Kohlmann W, Lindor NM, Mulvey TM, Robinson L, Rubinstein WS, Stoffel EM, Snyder C, Syngal S, Merrill JK, Wollins DS, Hughes KS; American Society of Clinical Oncology. American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. J Clin Oncol. 2014 Mar 10;32(8):833-40. doi: 10.1200/JCO.2013.50.9257. Epub 2014 Feb 3. No abstract available.
PubMed 24493721Kumar S, Dudzik CM, Reed M, Long JM, Wangensteen KJ, Katona BW. Upper Endoscopic Surveillance in Lynch Syndrome Detects Gastric and Duodenal Adenocarcinomas. Cancer Prev Res (Phila). 2020 Dec;13(12):1047-1054. doi: 10.1158/1940-6207.CAPR-20-0269. Epub 2020 Aug 28.
PubMed 32859614Capelle LG, Van Grieken NC, Lingsma HF, Steyerberg EW, Klokman WJ, Bruno MJ, Vasen HF, Kuipers EJ. Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology. 2010 Feb;138(2):487-92. doi: 10.1053/j.gastro.2009.10.051. Epub 2009 Nov 10.
PubMed 19900449
Study at a glance
From the registry record, last updated by the sponsor on 24 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Impact of Immune-surveillance on the Development of Colorectal Cancer in Patients With Lynch Syndrome
- ClinicalTrials.gov ID
- NCT06708429
- Acronym / sponsor ID
- LYNX-EYE / LYNX EYE 2023
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, Lynch Syndrome I (Site-specific Colonic Cancer), HNPCC, HNPCC Gene Mutation
- Keywords
- Colorectal cancer, Endometrial cancer, Lynch syndrome-associated cancer, Surveillance, Cancer surveillance, Immune profile, Immune escape, Mismatch repair deficiency
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- San Raffaele UniversityUniversity, hospital or other
- Study start
- 1 Jun 2023 (actual)
- Primary completion
- 1 Jun 2033 (estimated)
- Study completion
- 1 Jun 2034 (estimated)
- First posted
- 27 Nov 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.
Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central nervous system, skin, among others). It is caused by a germline mutation in one of four DNA mismatch repair genes or a terminal deletion of the MSH2-adjacent gene EpCAM.
Despite adherence to cancer surveillance programs, many patients still develop colorectal cancer and endometrial cancer. The Prospective Lynch Syndrome Database (PLSD) suggests that more frequent surveillance intervals do not significantly improve cancer risk reduction. The PLSD also revealed that the incidence of colorectal cancer in MLH1 and MSH2 carriers was even higher than previously expected, reaching as high as 41-36% among MLH1 carriers, regardless of ethnic background. The development of colorectal cancer despite surveillance is an unresolved question. Therefore, there is an unmet need for effective cancer prevention strategies.
Detailed description
The risk of developing colorectal cancer in individuals with Lynch syndrome remains high despite endoscopic surveillance.
In Lynch Syndrome, the cancer-formation process is characterized by the development of immunogenic neo-antigens in the mucosa. These neoantigens, called frame-shift peptides, can be recognized by the adaptive immune systems, and trigger the formation of antibodies against them (termed anti-frame-shift peptides antibodies). Anti-frame-shift peptide antibodies have been reported in some Lynch syndrome patients (defined dichotomously as the presence vs absence of anti-frame-shift peptide antibodies). This study hypothesizes that anti-frame-shift peptide antibodies represent an early biomarker of cancer development in Lynch syndrome. These anti-frame-shift peptide antibodies may be used to identify early patients at the highest risk of developing colorectal cancer. All studies on anti-frame-shift peptide antibodies have had a cross-sectional design, while a retro-prospective design would be desirable to understand the interaction between the mucosa and the mucosa-associated immune system. There is also limited evidence that individuals with Lynch syndrome develop mismatch repair-deficient crypts before colorectal cancer development. The development of interval colorectal cancers may require specific biological processes. Understanding the biological processes underlying these interval colorectal cancers would help define targets of innovative therapies to prevent colorectal cancer (including but not limited to chemoprevention strategies and cancer vaccines). The interactions between the mucosa immune surveillance and the colonic epithelium are the cornerstone to answer such questions. Finally, the development of gastric cancer via non-canonical pathways (non-Correa, non-HPylori) demands a better understanding of the pathogenesis in individuals with Lynch syndrome.
MicroRNA (miRNA) expression has been shown to have diagnostic, prognostic, and therapeutic potential. While they offer high detection sensitivity, the heterogeneity limits their detection accuracy. Exosomes are excreted by cancer cells and possess specific exosomal miRNA signatures. Since circulating cell-free miRNAs offer excellent sensitivity but may suffer from inadequate specificity, while exosomal miRNAs are highly tissue-specific but might lack sensitivity, a combination of these biomarkers could offer an optimal combination of sensitivity and specificity. 98.5% of the total DNA is non-coding regions with roles in gene regulation, alternative splicing, interaction with transcription factors, and sequences capable of moving around the genome and promoting carcinogenesis. The understanding of non-coding DNA seems to be important in cancer early diagnosis.
Lynch syndrome-associated colorectal cancers are high immunogenic lesions with abundant lymphocyte infiltration. This study aims to develop an extensive profile of the immunosuppressive and regulatory cellular population in blood and tumor sites to identify patients with higher risks of cancer development.
Recent data have demonstrated the presence of intratumor bacteria in both cancer and immune cells. Therefore, this study also aims to analyze in colonic biopsies from Lynch syndrome patients with- and without tumors the presence of microbiota as an early signature for carcinogenesis.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 14
| Arm | Type | Receives |
|---|---|---|
| Lynch syndrome (MLH1), without colorectal cancer and without advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic variant in the MLH1 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation |
| Lynch syndrome (MLH1), with colorectal cancer or advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic variant in the MLH1 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation |
| Lynch syndrome (MSH2), without colorectal cancer and without advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic variant in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation |
| Lynch syndrome (MSH2), with colorectal cancer or advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic variant in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation |
| Lynch syndrome (MSH6, without colorectal cancer and without advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic variant in the MSH6 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation |
| Lynch syndrome (MSH6), with colorectal cancer or advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic variant in the MSH6 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation |
| Lynch syndrome (PMS2), without colorectal cancer and without advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic variant in the PMS2 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation |
| Lynch syndrome (PMS2), with colorectal cancer or advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic variant in the PMS2 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation |
| Lynch syndrome (MSH2, exon 8 deletion), without colorectal cancer and without advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic exon 8 deletion in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation |
| Lynch syndrome (MSH2, exon 8 deletion), with colorectal cancer or advanced adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals with a germline pathogenic exon 8 deletion in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation |
| Non-Lynch syndrome, with colorectal cancer | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to have colorectal cancer at the time of colonoscopy evaluation |
| Non-Lynch syndrome, with high-risk adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to have high-risk adenomas at the time of colonoscopy evaluation |
| Non-Lynch syndrome, with low-risk adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to have low-risk adenomas at the time of colonoscopy evaluation |
| Non-Lynch syndrome, without colorectal cancer and without colorectal adenomas | – | Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- This study will enroll patients with and without Lynch syndrome, with and without colorectal cancer or colorectal adenomas.
Key inclusion criteria (17 listed)
- Age ≥18 years
- All sexes eligible
- Established diagnosis of Lynch syndrome performed as part of clinical practice, with a germline pathogenic/likely pathogenic variant in one of the following genes: MLH1, MSH2, MSH6, PMS2, and EpCAM
- Subjects with Lynch syndrome undergoing surveillance gastrointestinal endoscopy and/or surgery according to clinical practice
- Fertile patients (both males and females) are eligible
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)A combination of blood-based, mucosal-based, and hair-based analyses that evaluate the presence and the expression of: * a set of microRNAs (blood) * antibodies anti-frame shift peptides (blood) * mucosal-resident bacteria (healthy mucosa and cancer) * environmental exposure to potential carcinogens (hair matrix) | Diagnostic test | Lynch syndrome (MLH1), with colorectal cancer or advanced adenomas, Lynch syndrome (MLH1), without colorectal cancer and without advanced adenomas, Lynch syndrome (MSH2), with colorectal cancer or advanced adenomas, Lynch syndrome (MSH2), without colorectal cancer and without advanced adenomas, Lynch syndrome (MSH2, exon 8 deletion), with colorectal cancer or advanced adenomas, Lynch syndrome (MSH2, exon 8 deletion), without colorectal cancer and without advanced adenomas, Lynch syndrome (MSH6), with colorectal cancer or advanced adenomas, Lynch syndrome (MSH6, without colorectal cancer and without advanced adenomas, Lynch syndrome (PMS2), with colorectal cancer or advanced adenomas, Lynch syndrome (PMS2), without colorectal cancer and without advanced adenomas, Non-Lynch syndrome, with colorectal cancer, Non-Lynch syndrome, with high-risk adenomas, Non-Lynch syndrome, with low-risk adenomas, Non-Lynch syndrome, without colorectal cancer and without colorectal adenomas |
Primary outcome
Sensitivity
Time frame: Through study completion, an average of 1 year
True positive rate: the probability of a positive test result, conditioned on the individual truly being positive
6 secondary outcomes
Specificity
Time frame: Through study completion, an average of 1 year
Proportion of correct predictions (true positives and true negatives) among the total number of cases (i.e., accuracy)
Time frame: Through study completion, an average of 1 year
Prevalence of anti-frame-shift peptide antibodies positivity in blood sample
Time frame: Through study completion, an average of 1 year
Tumor microbiome analysis
Time frame: Through study completion, an average of 1 year
Immuno-environmental tumor signature
Time frame: Through study completion, an average of 1 year
Exposure analysis
Time frame: Through study completion, an average of 1 year
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 24 Apr 2026.
- Background: PubMed 25673086Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP. Milestones of Lynch syndrome: 1895-2015. Nat Rev Cancer. 2015 Mar;15(3):181-94. doi: 10.1038/nrc3878. Epub 2015 Feb 12.
- Background: PubMed 27799157Win AK, Jenkins MA, Dowty JG, Antoniou AC, Lee A, Giles GG, Buchanan DD, Clendenning M, Rosty C, Ahnen DJ, Thibodeau SN, Casey G, Gallinger S, Le Marchand L, Haile RW, Potter JD, Zheng Y, Lindor NM, Newcomb PA, Hopper JL, MacInnis RJ. Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Cancer Epidemiol Biomarkers Prev. 2017 Mar;26(3):404-412. doi: 10.1158/1055-9965.EPI-16-0693. Epub 2016 Oct 31.
- Background: PubMed 28466842Haraldsdottir S, Rafnar T, Frankel WL, Einarsdottir S, Sigurdsson A, Hampel H, Snaebjornsson P, Masson G, Weng D, Arngrimsson R, Kehr B, Yilmaz A, Haraldsson S, Sulem P, Stefansson T, Shields PG, Sigurdsson F, Bekaii-Saab T, Moller PH, Steinarsdottir M, Alexiusdottir K, Hitchins M, Pritchard CC, de la Chapelle A, Jonasson JG, Goldberg RM, Stefansson K. Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755.
- Background: PubMed 30063918Engel C, Vasen HF, Seppala T, Aretz S, Bigirwamungu-Bargeman M, de Boer SY, Bucksch K, Buttner R, Holinski-Feder E, Holzapfel S, Huneburg R, Jacobs MAJM, Jarvinen H, Kloor M, von Knebel Doeberitz M, Koornstra JJ, van Kouwen M, Langers AM, van de Meeberg PC, Morak M, Moslein G, Nagengast FM, Pylvanainen K, Rahner N, Renkonen-Sinisalo L, Sanduleanu S, Schackert HK, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vecht J, Verhulst ML, de Vos Tot Nederveen Cappel W, Zachariae S, Mecklin JP, Loeffler M; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry. No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies. Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29.
- Background: PubMed 26657901Moller P, Seppala T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rodland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Sampson JR, Capella G, Mecklin JP, Moslein G; Mallorca Group (http://mallorca-group.eu). Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. 2017 Mar;66(3):464-472. doi: 10.1136/gutjnl-2015-309675. Epub 2015 Dec 9.
- Background: PubMed 29046738Seppala T, Pylvanainen K, Evans DG, Jarvinen H, Renkonen-Sinisalo L, Bernstein I, Holinski-Feder E, Sala P, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rodland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Genuardi M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Frayling IM, Plazzer JP, Sampson JR, Capella G, Moslein G, Mecklin JP, Moller P; Mallorca Group. Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report. Hered Cancer Clin Pract. 2017 Oct 10;15:18. doi: 10.1186/s13053-017-0078-5. eCollection 2017.
- Background: PubMed 17919485Mecklin JP, Aarnio M, Laara E, Kairaluoma MV, Pylvanainen K, Peltomaki P, Aaltonen LA, Jarvinen HJ. Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome. Gastroenterology. 2007 Oct;133(4):1093-8. doi: 10.1053/j.gastro.2007.08.019. Epub 2007 Aug 14.
- Background: PubMed 20206180Vasen HF, Abdirahman M, Brohet R, Langers AM, Kleibeuker JH, van Kouwen M, Koornstra JJ, Boot H, Cats A, Dekker E, Sanduleanu S, Poley JW, Hardwick JC, de Vos Tot Nederveen Cappel WH, van der Meulen-de Jong AE, Tan TG, Jacobs MA, Mohamed FL, de Boer SY, van de Meeberg PC, Verhulst ML, Salemans JM, van Bentem N, Westerveld BD, Vecht J, Nagengast FM. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology. 2010 Jun;138(7):2300-6. doi: 10.1053/j.gastro.2010.02.053. Epub 2010 Mar 2.
- Background: PubMed 10784581Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, De La Chapelle A, Mecklin JP. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000 May;118(5):829-34. doi: 10.1016/s0016-5085(00)70168-5.
- Background: PubMed 19835992Engel C, Rahner N, Schulmann K, Holinski-Feder E, Goecke TO, Schackert HK, Kloor M, Steinke V, Vogelsang H, Moslein G, Gorgens H, Dechant S, von Knebel Doeberitz M, Ruschoff J, Friedrichs N, Buttner R, Loeffler M, Propping P, Schmiegel W; German HNPCC Consortium. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol. 2010 Feb;8(2):174-82. doi: 10.1016/j.cgh.2009.10.003. Epub 2009 Oct 14.
- Background: PubMed 26960970Ahadova A, von Knebel Doeberitz M, Blaker H, Kloor M. CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome. Fam Cancer. 2016 Oct;15(4):579-86. doi: 10.1007/s10689-016-9899-z.
- Background: PubMed 35168886Chambuso R, Kaambo E, Rebello G, Ramesar R. Correspondence on "Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database" by Dominguez-Valentin et al. Genet Med. 2022 May;24(5):1148-1150. doi: 10.1016/j.gim.2022.01.006. Epub 2022 Feb 12. No abstract available.
- Individual participant dataSharing planned: Undecided. Data collected for the study will be made available to others, including de-identified participant data, at publication, via a signed data access agreement and at the discretion of the investigators' approval of the proposed use of such data.
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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.
Giulia Martina Cavestro, MD, PhD principal investigator
IRCCS San Raffaele Scientific Institute
5 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lynch Syndrome and Lynch Syndrome I, run by San Raffaele University at 5 sites in 2 countries.
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 17 inclusion and 0 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 24 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in Italy, 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 Giulia Martina Cavestro, MD, PhD (0226436303, cavestro.giuliamartina@hsr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sensitivity (time frame: Through study completion, an average of 1 year). 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 NCT06708429, which also lists 24 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 24 Apr 2026.