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

NCT04214457 | Unknown

• 1 other identifier: IGX1-MYO-CS-19-03
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 4

Brief 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

Keywords

Leiomyoma (LM); Leiomyosarcoma (LMS); Next Generation Sequencing (NGS); Circulating tumor DNA (ctDNA)

Outcome Measures

Primary Outcomes (1)

• Identification of specific genetic markers for leiomyomas and leiomyosarcomas

  Identification of genetic markers that allow the classification of myometrial tumors into leiomyomas and leiomyosarcomas by NGS.

  36 months

Secondary Outcomes (2)

• Characterization of cell populations of uterine leiomyomas and leiomyosarcomas

  36 months

• Identification of methylation patterns characteristic of the tumorigenic process

  36 months

Study Arms (1)

Myometrial tumor with suspected leiomyosarcoma

Women between 18 and 75 years of age diagnosed with a myometrial tumor (probably leiomyoma) with suspected leiomyosarcoma

Procedure: Biopsy and peripheral blood collection

Interventions

Biopsy and peripheral blood collection PROCEDURE

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.

Myometrial tumor with suspected leiomyosarcoma

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Women between 18 and 75 years of age and BMI between 18-35 kg/m2, diagnosed with a myometrial tumor (probably leiomyoma) with suspected leiomyosarcoma, will be evaluated at their reference center, verifying that they comply the inclusion / exclusion criteria to participate in the study

You may qualify if:

• Patients who voluntarily sign the informed consent approved by the research Ethics Committee (EC) after having been duly informed of the nature of the study, before carrying out any test, knowing the potential risks, benefits and discomforts arising from their participation. Participants should be informed that they may leave the study at any time, without this implying any consequences for their subsequent medical care.
• Body Mass Index (BMI) = 18-35 kg/m2
• Age = 18-75 years
• Surgical indication of hysterectomy, laparoscopic or laparotomic myomectomy by imaging diagnosis (ultrasound, resonance, Computerized Tomography Scan ...) of tumor mass in the myometrium, whether primary or recurrent.

You may not qualify if:

• Patients who have participated in another biomedical study or who have received an experimental treatment during the last 30 days, unless approved by the sponsor.
• Patients who have received chemotherapy or radiotherapy 6 months before diagnosis (in case of recurrence).
• Pregnant patients before or during the development of the study.
• Existence of serious or uncontrolled bacterial, fungal or viral infections that, in the opinion of the principal investigator, may interfere with the patient's participation in the study or in the evaluation of the study results.
• Any illness or medical condition that is unstable or could endanger the patient's safety and compliance in the study.
• Psychological, family, sociological or geographical situations that do not allow compliance with the protocol or the signing of informed consent.

Sponsors & Collaborators

• Igenomix: lead

Study Sites (4)

Complejo Hospitalario Universitario de Cartagena

Cartagena, Murcia, 30202, Spain

RECRUITING

Hospital Universitario Virgen de la Arrixaca

El Palmar, Murcia, 30120, Spain

RECRUITING

Instituto Valenciano de Oncología

Valencia, 46009, Spain

RECRUITING

Hospital Universitario y Politécnico La Fe

Valencia, 46026, Spain

RECRUITING

MeSH Terms

Conditions

Leiomyoma; Leiomyosarcoma

Interventions

Biopsy

Condition Hierarchy (Ancestors)

Neoplasms, Muscle Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Sarcoma

Intervention Hierarchy (Ancestors)

Cytodiagnosis; Cytological Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Specimen Handling; Diagnostic Techniques, Surgical; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Carlos Simón, MD, PhD

  Igenomix

  STUDY CHAIR

• Aymara Mas, PhD

  Igenomix Foundation

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Carlos Gomez, BSc, MSc

CONTACT

+34 963905310; carlos.gomez@igenomix.com

Diana Valbuena, MD, PhD

CONTACT

+34 963905310; diana.valbuena@igenomix.com

Study Design

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

Study Record Dates

• First Submitted: December 27, 2019
• First Posted: January 2, 2020
• Study Start: September 20, 2019
• Primary Completion: July 1, 2022
• Study Completion: July 1, 2022
• Last Updated: September 5, 2021

Record last verified: 2021-09

Data Sharing

• IPD Sharing: Will not share

Locations

ES (4)