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Development of a Predictive Model for Early Differential Diagnosis of Uterine Leiomyomas and Leiomyosarcomas

NCT04214457 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2021-09-05

No results posted yet for this study

Summary

The development of an accurate and non-invasive diagnostic method is a priority in areas such as gynecology and oncology, specifically to improve the health of those patients with surgical indication for diagnosis of myometrial tumors: leiomyomas and/or leiomyosarcomas.

Recently, Next Generation Sequencing (NGS) technology has been successfully applied in different areas of knowledge, being effective not only for the detection of DNA mutations, but also providing through bioinformatic tools, new insights in the understanding of chromosomal instability. In addition, the detection of circulating tumor DNA (ctDNA) through this type of techniques could revolutionize the non-invasive detection and monitoring of this type of tumors.

The proposed study aims to perform the differential molecular analysis of myometrial tumor tissue (uterine leiomyomas / leiomyosarcomas), as well as peripheral blood of a group of patients with surgical indication of hysterectomy, laparoscopic or laparotomic myomectomy by diagnosis of myometrial tumors. Thus, the obtained samples will be processed for the realization of techniques of massive parallel sequencing or NGS that, together with a specialized bioinformatic software, will facilitate the interpretation of the obtained data.

Combination of both platforms, sequencing and bioinformatics, will offer a high potential for the discovery of genetic variants and genomic markers. Depending on the results of these analyses, differential diagnosis of leiomyoma and leiomyosarcoma could be determined, in addition to increasing knowledge of myometrial biology and associated pathologies in a clinical and therapeutic context. Moreover, the application of this technology could allow the development of biomarkers and targeted therapies effective in the treatment of uterine leiomyomas and/or leiomyosarcomas.

Conditions

  • Leiomyoma
  • Leiomyosarcoma

Interventions

PROCEDURE

Biopsy and peripheral blood collection

After obtaining informed consent, the samples (tumor tissue and peripheral blood) will be collected at the time of surgery, which the patient had already planned by medical indication according to the usual clinical practice. Part of the sample will be sent to histopathology for gold standard diagnosis while the rest of the sample will be sent to Igenomix for molecular analysis. If samples are available from patients who underwent surgery prior to the study, after they sign the Informed Consent, the samples will be sent to Igenomix for molecular analysis and the results obtained by histopathology will be collected from the patient's medical record.

Sponsors & Collaborators

  • Igenomix

    lead INDUSTRY

Principal Investigators

  • Carlos Simón, MD, PhD · Igenomix

  • Aymara Mas, PhD · Igenomix Foundation

Eligibility

Min Age
18 Years
Max Age
75 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-09-20
Primary Completion
2022-07-31
Completion
2022-07-31

Countries

  • Spain

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04214457 on ClinicalTrials.gov