Innovative Non-Invasive Diagnostics and Personalized Treatment Strategies for Endometriosis Through Advanced Multi-Omics and Ultrasound Integration

NCT07570225 | Not Yet Recruiting

• 1 other identifier: DNR 2025-03336-01
• Study Type: observational
• Target: 365
• Locations: 0 countries
• Sites: N/A

Brief Summary

Endometriosis is a prevalent gynecological condition affecting approximately 10% of women of reproductive age worldwide. It presents with nonspecific but often severe symptoms, including chronic pelvic pain (in 70% of cases) and infertility (in up to 40% of cases), imposing significant physical, psychological, economic, and societal burdens. Despite its widespread occurrence, the exact etiology and pathogenesis of endometriosis remain unclear, and no definitive cure exists. Early diagnosis and management are crucial for improving patient outcomes; however, major diagnostic delays persist. Current imaging techniques such as transvaginal ultrasound (TVUS) examination and magnetic resonance imaging, along with biochemical markers lack sufficient specificity. Consequently, confirmation of diagnosis still requires surgical procedures under general anesthesia, i.e. laparoscopy ("key-hole surgery") and tissue biopsy. This delay exacerbates the disease burden and healthcare costs, underscoring the urgent need for non-invasive, precise diagnostic strategies. This project proposes a multi-modal approach integrating advanced ultrasound imaging with novel biomarkers identified via comprehensive multi-omics analyses, including proteomics, transcriptomics, and immune profiling, of patient-derived endometrial organoids. It aims to understand the underlying mechanisms of reduced endometrial receptivity of embryos in patients with endometriosis. Additionally, we will explore personalized treatment strategies by utilizing patient-specific organoids for drug screening and evaluation of treatment response. This project aims to develop a non-invasive diagnostic strategy by integrating:

1. 1.AI-enhanced TVUS for improved lesion detection.
2. 2.Multi-omics biomarker discovery through proteomics, transcriptomics, and immune profiling.
3. 3.Underpinning the mechanisms of reduced endometrial receptivity in endometriosis using an in vitro model of embryo-endometrium interaction.
4. 4.Endometrial organoid models to enable precision medicine-based drug testing. The development of a reliable noninvasive or minimally invasive diagnostic test-or a combination of tests-could revolutionize the diagnostic pathway by reducing delays, avoiding the need for surgery, and facilitating disease monitoring and treatment evaluation.

Conditions

Endometriosis; Infertility, Female

Keywords

Transvaginal ultrasound; AI; Multi-omics; Organoid

Outcome Measures

Primary Outcomes (1)

• Diagnostic accuracy of the combined AI-assisted transvaginal ultrasound and multi-omics biomarker model for detection of endometriosis

  Sensitivity and specificity of a combined diagnostic model integrating AI-assisted interpretation of transvaginal ultrasound images with plasma, saliva, urine, and endometrial-derived biomarkers for the detection of endometriosis, using laparoscopic diagnosis with or without histological confirmation as the reference standard.

  At baseline diagnostic evaluation

Secondary Outcomes (5)

• Diagnostic accuracy of AI-assisted transvaginal ultrasound alone

  Baseline

• Diagnostic performance of plasma and endometrial biomarker panel

  Baseline sample collection

• Implantation rate in in vitro endometrial models

  Periprocedural/ During in vitro culture period (e.g., up to 5-10 days)

• Molecular characteristics associated with embryo/blastoid attachment

  Periprocedural/During in vitro experiments

• Organoid drug response variability and association with disease characteristics

  At baseline sample collection and through study completion (around 3 years)

Study Arms (3)

1

Never had treatment

Diagnostic Test: Non-invasive diagnosis of endometriosis

2

Ongoing treatment

Diagnostic Test: Non-invasive diagnosis of endometriosis

3

No actual treatment (has had treatment before)

Diagnostic Test: Non-invasive diagnosis of endometriosis

Interventions

Non-invasive diagnosis of endometriosis DIAGNOSTIC_TEST

Diagnosis using AI-enhanced transvaginal ultrasound, multi-omics, and organoids

1; 2; 3

Eligibility Criteria

• Age: 18 Years - 45 Years
• Gender Eligibility Details: Only women of people who have a uterus are eligible
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Women aged 18-45 years with suspected or confirmed endometriosis that visit the Endometriosis Centre at the Gynaecology Department at Karolinska University Hospital (KUS), Huddinge

You may qualify if:

• Women aged 18-45
• Understands and speaks the Swedish language
• Suspected or confirmed endometriosis

You may not qualify if:

• Do not have a uterus

Sponsors & Collaborators

• Region Stockholm: lead
• Karolinska Institutet: collaborator

Biospecimen

Retention: SAMPLES WITH DNA

Blood, endometrium, saliva, urine, ascites, peritoneum, embryos

MeSH Terms

Conditions

Endometriosis; Infertility, Female

Condition Hierarchy (Ancestors)

Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Infertility

Study Officials

• Ronak Perot, MD

  Region Stockholm

  STUDY CHAIR

• Lars Henningsohn, MD,Prof

  Karolinska Institutet

  STUDY CHAIR

Central Study Contacts

Stefhanie Romero Andersson, MD, PhD, MSc

CONTACT

0046707822742; stefhanie.romero.andersson@ki.se

Study Design

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

Study Record Dates

• First Submitted: April 13, 2026
• First Posted: May 6, 2026
• Study Start: April 20, 2026
• Primary Completion (Estimated): April 20, 2028
• Study Completion (Estimated): April 20, 2029
• Last Updated: May 6, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share