Development of a Predictive Model for Early Differential Diagnosis of Uterine Leiomyomas and Leiomyosarcomas (MYOSARC)
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ClinicalTrials.gov Identifier: NCT04214457 |
Recruitment Status : Unknown
Verified September 2021 by Igenomix.
Recruitment status was: Recruiting
First Posted : January 2, 2020
Last Update Posted : September 5, 2021
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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.
Condition or disease | Intervention/treatment |
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Leiomyoma Leiomyosarcoma | Procedure: Biopsy and peripheral blood collection |
Study Type : | Observational |
Estimated Enrollment : | 1000 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Prospective, National and Multicenter Biomedical Study of Cohorts, Aimed at Patients With Surgical Indication of Hysterectomy, Laparoscopic or Laparotomic Myomectomy Due to Diagnosis of Myometrial Tumors (Leiomyoma / Leiomyosarcoma) |
Actual Study Start Date : | September 20, 2019 |
Estimated Primary Completion Date : | July 2022 |
Estimated Study Completion Date : | July 2022 |
Group/Cohort | Intervention/treatment |
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Myometrial tumor with suspected leiomyosarcoma
Women between 18 and 75 years of age diagnosed with a myometrial tumor (probably leiomyoma) with suspected leiomyosarcoma
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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. |
- Identification of specific genetic markers for leiomyomas and leiomyosarcomas [ Time Frame: 36 months ]Identification of genetic markers that allow the classification of myometrial tumors into leiomyomas and leiomyosarcomas by NGS.
- Characterization of cell populations of uterine leiomyomas and leiomyosarcomas [ Time Frame: 36 months ]Single-cell DNA/RNAseq characterization of the uterine leiomyomas and leiomyosarcomas cell populations in order to assess the heterogeneity in these myometrial tumors.
- Identification of methylation patterns characteristic of the tumorigenic process [ Time Frame: 36 months ]Study of methylation patterns that could identify tumorigenic processes
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Ages Eligible for Study: | 18 Years to 75 Years (Adult, Older Adult) |
Sexes Eligible for Study: | Female |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- 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.
Exclusion Criteria:
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04214457
Contact: Carlos Gomez, BSc, MSc | +34 963905310 | carlos.gomez@igenomix.com | |
Contact: Diana Valbuena, MD, PhD | +34 963905310 | diana.valbuena@igenomix.com |
Spain | |
Complejo Hospitalario Universitario de Cartagena | Recruiting |
Cartagena, Murcia, Spain, 30202 | |
Contact: Sebastián Ortiz +34 968 12 86 00 sortizreina@yahoo.es | |
Principal Investigator: Sebastián Ortiz, MD | |
Hospital Universitario Virgen de la Arrixaca | Recruiting |
El Palmar, Murcia, Spain, 30120 | |
Contact: Anibal Nieto, MD, PhD +34968369500 anibal.nieto@um.es | |
Principal Investigator: Aníbal Nieto | |
Instituto Valenciano de Oncología | Recruiting |
Valencia, Spain, 46009 | |
Contact: Jose Antonio Lopez, PhD +34961114000 jalopez@fivo.org | |
Principal Investigator: Jose Antonio Lopez, PhD | |
Hospital Universitario y Politécnico La Fe | Recruiting |
Valencia, Spain, 46026 | |
Contact: Santiago Domingo Del Pozo, MD, PhD santiago.domingo@ono.com | |
Contact: Javier Monleón Sancho, MD, PhD monlesancho@gmail.com | |
Principal Investigator: Javier Monleón, MD |
Study Chair: | Carlos Simón, MD, PhD | Igenomix | |
Principal Investigator: | Aymara Mas, PhD | Igenomix Foundation |
Responsible Party: | Igenomix |
ClinicalTrials.gov Identifier: | NCT04214457 |
Other Study ID Numbers: |
IGX1-MYO-CS-19-03 |
First Posted: | January 2, 2020 Key Record Dates |
Last Update Posted: | September 5, 2021 |
Last Verified: | September 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Leiomyoma (LM) Leiomyosarcoma (LMS) Next Generation Sequencing (NGS) Circulating tumor DNA (ctDNA) |
Leiomyosarcoma Leiomyoma Myofibroma Neoplasms, Muscle Tissue Neoplasms, Connective and Soft Tissue |
Neoplasms by Histologic Type Neoplasms Sarcoma Neoplasms, Connective Tissue Connective Tissue Diseases |