Liquid Biopsy in Germ Cell Tumors

NCT07376096 | Not Yet Recruiting

• 1 other identifier: KLP9070624_4
• Study Type: observational
• Target: 200
• Locations: 0 countries
• Sites: N/A

Brief Summary

Theoretical framework: Testicular germ cell tumors (TGCT) are characterized by frequent chromosomal anomalies such as gain of chromosome 12p and low rates of somatic mutations. Cell-free circulating tumor DNA (ctDNA) has been investigated in some cancers but only a few studies explored the presence of ctDNA in TGCT. The consistent gain of genetic material from chromosome 12p makes TGCT patients to ideal candidates for liquid biopsy investigations. We have analyzed three pre-chemo samples with our plasma-Seq approach and applied the ichorCNA algorithm to call for somatic copy number alterations (SCNA) and estimate the tumor fraction. Besides the frequently observed chromosome 12p gain, a variety of other SCNA were detected indicating that shallow whole genome sequencing (sWGS) is a suitable approach to analyze ctDNA in TGCT. Only 60% of TGCT patients express the classical markers alpha fetoprotein (AFP) and beta (human chorionic gonadotropin) HCG. Biomarkers to monitor patients who don't express the classical markers are of great need. Hypotheses: We postulate that tumor-specific aberrations can be detected non-invasively in plasma DNA from patients with metastatic TGCT and serve as a diagnostic tool. Furthermore, we will investigate if the change of ctDNA during curative treatment can be used as monitoring tool and allows risk classification in comparison to conventional markers and the novel micro RNA biomarker miR-371a-3p (prognostic value of ctDNA). Methods: For ctDNA and micro RNA analysis, blood samples will be drawn from patients before orchiectomy, before chemotherapy start, prior to the second cycle of chemotherapy, after completion of treatment and in case of relapse. In order to identify SCNA and to estimate the tumor content in plasma we will employ sWGS and analyze the data with the ichorCNA algorithm for a detection of SCNA. Since TGCT have low rates of somatic mutations, orchiectomy samples from patients with disease recurrence and plasma samples at time of recurrence will also be compared with the Biomodal platform which allows analysis of genetic as well as epigenetic changes.

Conditions

100 Stage I Patients; 100 Metastatic Patients

Outcome Measures

Primary Outcomes (1)

• Percentage of patients with detectable ctDNA

  2 years

Secondary Outcomes (1)

• To compare the sensitivity and specificity of ctDNA with miR-371a-3p

  2 years

Study Arms (2)

Stage I

non-metastatic testicular germ cell tumors

Stage II-III

metastatic testicular germ cell tumors

Eligibility Criteria

• Age: 18 Years+
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

We aim to recruit 200 testicular germ cell tumor patients, 100 subjects with metastatic disease and 100 patients with stage I disease.

You may qualify if:

• Male patients with the age ≥ 18years with
• Seminomatous or non-seminomatous germ cell tumors (extragonadal origin is allowed)
• Metastatic disease
• Stage I patients on active surveillance (for seminoma patients at least one risk factor, rete testis infiltration or tumor size \> 4cm, should be present)

You may not qualify if:

• Other tumors than germ cell tumors of the testis
• Patients with a second malignancy within the last 5 years (except germ cell tumors)
• Stage I patients who received adjuvant treatment

Sponsors & Collaborators

• Medical University of Graz: lead
• FWF - Österreichischer Wissenschaftsfonds: collaborator
• Medical University of Innsbruck: collaborator
• Medical University of Vienna: collaborator
• Klinikum Ottakring Vienna: collaborator
• Klinikum Favoriten Vienna: collaborator
• Klinikum Klagenfurt am Wörthersee: collaborator
• Landeskrankenhaus Salzburg: collaborator
• Johannes Kepler Universität Linz: collaborator
• Cantonal Hospital of St. Gallen: collaborator
• Kantonsspital Graubünden: collaborator
• Luzerner Kantonsspital: collaborator
• Universitätsklinikum Hamburg-Eppendorf: collaborator
• University Düsseldorf: collaborator
• Vivantes Klinikum Am Urban, Berlin: collaborator
• Universitätsklinikum Krems: collaborator
• Universitätsklinikum Wiener Neustadt: collaborator

Biospecimen

Retention: SAMPLES WITH DNA

ctDNA and microRNA

Central Study Contacts

Angelika Terbuch, MD

CONTACT

06509484740; angelika.terbuch@medunigraz.at

Thomas Bauernhofer, Prof.

CONTACT

031638581307; thomas.bauernhofer@medunigraz.at

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 22, 2026
• First Posted: January 29, 2026
• Study Start: February 16, 2026
• Primary Completion (Estimated): February 15, 2028
• Study Completion (Estimated): February 15, 2030
• Last Updated: January 29, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: CSR