Descriptive Analysis of Preimplantation Genetic Test (PGT)in Couples With Polycystic Kidney Disease (PKD). In the ADPKD Subgroup Evaluation of Outcomes and Complications Comparing Couples in Which the Father is Affected With Couples in Which the Mother is Affected

NCT ID: NCT07310641

Last Updated: 2026-01-05

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 44 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-12-30
• Study Completion Date: 2025-05-06

Brief Summary

The goal of this observational study is to evaluate the outcomes of assisted reproductive technology (ART) combined with preimplantation genetic testing for monogenic diseases (PGT-M) in couples affected by or carriers of polycystic kidney disease (PKD). The participant population includes couples in which one partner has autosomal dominant polycystic kidney disease (ADPKD) or both partners have autosomal recessive polycystic kidney disease (ARPKD), who were treated at the Arco Medically Assisted Procreation Center (part of Azienda Provinciale per i Servizi Sanitari della Provincia Autonoma di Trento) between January 1, 2018, and August 1, 2024, and who provided informed consent to participate in the study.

The main questions it aims to answer were:

• What are the outcomes in terms of clinical pregnancy and live birth rates in this population undergoing ART with PGT-M?
• What is the incidence of complications, including ovarian hyperstimulation syndrome (OHSS), miscarriage, hypertension, and preeclampsia, in these patients?

There is no external comparison group; however, the study may perform internal comparisons between subgroups (e.g., ADPKD vs ARPKD couples) to assess whether specific forms of PKD are associated with different reproductive outcomes.

Participants have:

1. Undergone ART procedures including ovarian stimulation, oocyte retrieval, fertilization, embryo biopsy, and transfer of embryos free of the pathogenic mutation.

2. Received genetic counseling and preimplantation genetic testing for monogenic diseases (PGT-M).

3. Been monitored throughout the process for clinical outcomes and complications (e.g., OHSS, pregnancy loss, hypertensive disorders).

Conditions

Polycystic Kidney Disease; Assisted Reproductive Technology; Preimplantation Genetic Testing (PGT)

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Study Groups

Subjects with autosomal dominant polycystic kidney disease

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Intervention Type: PROCEDURE

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Subjects with autosomal recessive polycystic kidney disease

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Intervention Type: PROCEDURE

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Interventions

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Intervention Type: PROCEDURE

Eligibility Criteria

Inclusion Criteria

• > 18 years old
• Member of a heterosexual couple in which one of the two individuals is affected by ADPKD (with the condition confirmed by genetic diagnosis), or in which both members are carriers of ARPKD (with the condition genetically confirmed), who have been taken in charge by the Arco Medically Assisted Procreation (MAP) Center between January 1, 2018, and August 1, 2024, for the purpose of preimplantation genetic testing for monogenic diseases (PGT-M).
• Couples in which both partners have given their consent to participate in the study and to the processing of personal data.

Exclusion Criteria

• Minors
• Couples in which one or both members have not given their consent to participate in the study and to the processing of personal data

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Azienda Provinciale per i Servizi Sanitari, Provincia Autonoma di Trento

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Ospedale di Arco

Arco, Trento, Italy

Countries

Italy

Other Identifiers

28258

Identifier Type: -

Identifier Source: org_study_id