Prospective Sample Collection Study for a Blood-Based cfDNA Methylation Assay for Ovarian Cancer Detection

NCT07593833 | Not Yet Recruiting

• 1 other identifier: TJ-OVMethy
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this observational study is to learn whether a blood-based cell-free DNA (cfDNA) methylation assay can help detect ovarian cancer, especially early-stage ovarian cancer, in women undergoing clinical evaluation for ovarian tumors or gynecologic diseases. The main questions it aims to answer are: How well can this assay distinguish ovarian cancer from benign gynecologic diseases? How accurately can this assay detect early-stage ovarian cancer and other ovarian tumor subtypes? Researchers will compare the test results from participants with ovarian cancer and participants with benign gynecologic diseases to evaluate the diagnostic performance of the assay. Participants will: Provide blood samples for cfDNA methylation testing Allow researchers to collect clinical and pathological information related to their diagnosis Be grouped according to their final clinical or pathological diagnosis for analysis

Conditions

Ovarian Neoplasms; Ovarian Cancer; Early Detection of Cancer

Keywords

Ovarian Cancer; Ovarian Neoplasms; cfDNA Methylation; Cell-Free DNA; DNA Methylation; Liquid Biopsy; Blood-Based Assay; Early Detection; Biomarker; Early Diagnosis; Diagnostic Performance; Ovarian Tumor

Outcome Measures

Primary Outcomes (2)

• Diagnostic sensitivity

  Diagnostic sensitivity of the blood-based cfDNA methylation panel, defined as the proportion of participants with ovarian cancer who test positive, using final clinical and/or pathological diagnosis as the reference standard.

  From blood sample collection to final clinical and/or pathological diagnosis, up to 6 months

• Diagnostic specificity

  Diagnostic specificity of the blood-based cfDNA methylation panel, defined as the proportion of participants without ovarian cancer who test negative, using final clinical and/or pathological diagnosis as the reference standard.

  From blood sample collection to final clinical and/or pathological diagnosis, up to 6 months

Secondary Outcomes (5)

• Diagnostic performance of the blood-based cfDNA methylation panel combined with CA125 for early-stage ovarian cancer detection

  From blood sample collection to final clinical and/or pathological diagnosis, up to 6 months

• Diagnostic performance of the blood-based cfDNA methylation panel combined with ROMA score for early-stage ovarian cancer detection

  From blood sample collection to final clinical and/or pathological diagnosis, up to 6 months

• Detection performance of the blood-based cfDNA methylation panel in borderline ovarian tumors

  From blood sample collection to final clinical and/or pathological diagnosis, up to 6 months

• Detection performance of the blood-based cfDNA methylation panel in precursor lesions or high-risk populations

  From blood sample collection to final clinical and/or pathological diagnosis or clinical classification, up to 6 months

• Diagnostic performance of the blood-based cfDNA methylation panel across histologic subtypes of ovarian cancer

  From blood sample collection to final clinical and/or pathological diagnosis, up to 6 months

Study Arms (2)

Ovarian Cancer

Women with ovarian cancer who provide blood samples for cfDNA methylation testing. Participants will be classified into this cohort based on their final clinical and/or pathological diagnosis. This cohort will be used to evaluate the sensitivity of the assay, including its performance in different histologic subtypes and early-stage disease.

Diagnostic Test: Blood-Based cfDNA Methylation Assay for Ovarian Cancer Detection

Benign Gynecologic Diseases

Women with benign gynecologic diseases who provide blood samples for cfDNA methylation testing. Participants will be classified into this cohort based on their final clinical and/or pathological diagnosis. This cohort will be used to evaluate the specificity of the assay.

Diagnostic Test: Blood-Based cfDNA Methylation Assay for Ovarian Cancer Detection

Interventions

Blood-Based cfDNA Methylation Assay for Ovarian Cancer Detection DIAGNOSTIC_TEST

A blood-based diagnostic test performed on plasma samples to analyze a proprietary cfDNA methylation panel for ovarian cancer detection. The assay uses a PCR-based detection method, and test results will be compared with final clinical and/or pathological diagnoses to evaluate diagnostic performance.

Also known as: Plasma cfDNA Methylation Test

Benign Gynecologic Diseases; Ovarian Cancer

Eligibility Criteria

• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Women with complex ovarian or adnexal masses, including suspected ovarian-origin pelvic masses, who are planned to undergo first-time surgery or biopsy/pathologic sampling related to the current lesion at participating centers and are expected to have a postoperative pathologic diagnosis available as the reference standard. The main analysis population consists of participants with pathologically confirmed early-stage invasive ovarian malignancies (FIGO 2014 stage IA-IIB) and participants with pathologically confirmed benign ovarian or adnexal diseases. Participants with borderline ovarian tumors, advanced-stage invasive malignancies, and, where available, high-risk or precursor lesions may also be enrolled as exploratory cohorts.

You may qualify if:

• Female participants.
• Participants with an ovarian/adnexal mass who are planned to undergo, for the first time at the current center, surgery or biopsy/pathologic sampling related to the current lesion, with an expected pathologic diagnosis available as the reference standard.
• Imaging evaluation during screening suggests a unilateral or bilateral, unilocular or multilocular cystic-solid or solid ovarian/adnexal mass requiring differential diagnosis.
• An adequate peripheral blood sample can be collected before the first surgery or before initiation of any systemic anti-tumor treatment for the current ovarian/adnexal mass, and the sample can be processed and stored within the required time according to the unified study procedures.
• Clinical data and postoperative pathologic results are expected to be sufficiently complete to provide key information for subsequent analyses.
• The participant or her legally authorized representative voluntarily signs written informed consent after being fully informed.

You may not qualify if:

• The participant has already received systemic anti-tumor treatment for the current ovarian/adnexal lesion under evaluation, such as chemotherapy, targeted therapy, immunotherapy, or radiotherapy, or has already undergone definitive tumor resection or comprehensive staging surgery, and is undergoing surgery only for residual or recurrent lesions.
• No pathologic diagnosis is ultimately obtained for the current ovarian/adnexal mass, or no analyzable pathologic conclusion can be established.
• Imaging findings at screening are highly typical of benign mature cystic teratoma.
• Ovarian cancer combined with another malignant tumor.
• There are obvious noncompliances during sample collection, transport, or processing, resulting in severe hemolysis, contamination, or seriously insufficient sample volume, such that the sample cannot meet quality control requirements for cfDNA methylation testing or subsequent analyses.
• Any other condition that, in the investigator's judgment, makes the participant unsuitable for enrollment.

Sponsors & Collaborators

• Tongji Hospital: lead
• The Affiliated Hospital of Qingdao University: collaborator
• Xiangyang Central Hospital: collaborator
• Renmin Hospital of Wuhan University: collaborator
• General Hospital of Ningxia Medical University: collaborator
• Tongji Hospital affiliated to Tongji University: collaborator
• The Affiliated Tumor Hospital of Nantong University, Nantong, Jiangsu Province, China: collaborator
• Women's Hospital School Of Medicine Zhejiang University: collaborator
• Shanghai First Maternity and Infant Hospital: collaborator
• The First Affiliated Hospital of Soochow University: collaborator
• The First Hospital of Jilin University: collaborator
• Wuhan Central Hospital: collaborator
• The First Hospital of Lanzhou University, Gansu, China: collaborator

Study Sites (1)

Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology

Wuhan, Hubei, 430030, China

Location

Related Publications (6)

• Bray F, Laversanne M, Sung H, Ferlay J, Siegel RL, Soerjomataram I, Jemal A. Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2024 May-Jun;74(3):229-263. doi: 10.3322/caac.21834. Epub 2024 Apr 4.

  PMID: 38572751 RESULT

• Lofton-Day C, Model F, Devos T, Tetzner R, Distler J, Schuster M, Song X, Lesche R, Liebenberg V, Ebert M, Molnar B, Grutzmann R, Pilarsky C, Sledziewski A. DNA methylation biomarkers for blood-based colorectal cancer screening. Clin Chem. 2008 Feb;54(2):414-23. doi: 10.1373/clinchem.2007.095992. Epub 2007 Dec 18.

  PMID: 18089654 RESULT

• Nie Y, Gao X, Cai X, Wu Z, Liang Q, Xu G, Liu N, Gao P, Deng J, Xu H, Shen Z, Cao C, Chen F, Zhang N, Song Y, Sun M, Liu C, Zhou G, Han W, Dou J, Xie H, Yao L, Liu Z, Ji G, Wang X, Zhao Q, Shang L, Fan D, Han X, Ren J, Liang H, Wang Z, Wang J, Wu Q, Yu J, Wu K; MAGIS Study Group. Combining methylated SEPTIN9 and RNF180 plasma markers for diagnosis and early detection of gastric cancer. Cancer Commun (Lond). 2023 Nov;43(11):1275-1279. doi: 10.1002/cac2.12478. Epub 2023 Aug 16. No abstract available.

  PMID: 37584087 RESULT

• Liang W, Chen Z, Li C, Liu J, Tao J, Liu X, Zhao D, Yin W, Chen H, Cheng C, Yu F, Zhang C, Liu L, Tian H, Cai K, Liu X, Wang Z, Xu N, Dong Q, Chen L, Yang Y, Zhi X, Li H, Tu X, Cai X, Jiang Z, Ji H, Mo L, Wang J, Fan JB, He J. Accurate diagnosis of pulmonary nodules using a noninvasive DNA methylation test. J Clin Invest. 2021 May 17;131(10):e145973. doi: 10.1172/JCI145973.

  PMID: 33793424 RESULT

• Xu RH, Wei W, Krawczyk M, Wang W, Luo H, Flagg K, Yi S, Shi W, Quan Q, Li K, Zheng L, Zhang H, Caughey BA, Zhao Q, Hou J, Zhang R, Xu Y, Cai H, Li G, Hou R, Zhong Z, Lin D, Fu X, Zhu J, Duan Y, Yu M, Ying B, Zhang W, Wang J, Zhang E, Zhang C, Li O, Guo R, Carter H, Zhu JK, Hao X, Zhang K. Circulating tumour DNA methylation markers for diagnosis and prognosis of hepatocellular carcinoma. Nat Mater. 2017 Nov;16(11):1155-1161. doi: 10.1038/nmat4997. Epub 2017 Oct 9.

  PMID: 29035356 RESULT

• Zhang Q, Hu G, Yang Q, Dong R, Xie X, Ma D, Shen K, Kong B. A multiplex methylation-specific PCR assay for the detection of early-stage ovarian cancer using cell-free serum DNA. Gynecol Oncol. 2013 Jul;130(1):132-9. doi: 10.1016/j.ygyno.2013.04.048. Epub 2013 Apr 25.

  PMID: 23623832 RESULT

MeSH Terms

Conditions

Ovarian Neoplasms; Disease

Condition Hierarchy (Ancestors)

Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Endocrine System Diseases; Gonadal Disorders; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Qinglei Gao, Dr.

CONTACT

+86-27-83662681; qingleigao@hotmail.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr.

Study Record Dates

• First Submitted: May 12, 2026
• First Posted: May 18, 2026
• Study Start (Estimated): July 1, 2026
• Primary Completion (Estimated): June 30, 2029
• Study Completion (Estimated): December 30, 2029
• Last Updated: May 18, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)