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OpenTrials
Completed

NCT Number: NCT07310641

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

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).

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Key information

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Procedure

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Primary outcomes

  1. Live birth or ongoing pregnancy at term during the observation period

    Time frame: From January 2018 to July 2024

Secondary outcomes

  1. Live birth - ongoing pregnancy

    Time frame: From January 2018 to July 2024

  2. Number and percentage of preterm births (<37 weeks) in each cohort

    Time frame: From January 2018 to July 2024

  3. Incidence of pregnancy complications in the two cohorts

    Time frame: From January 2018 to July 2024

  4. Number of miscarriages in each cohort

    Time frame: From January 2018 to July 2024

Sponsors and collaborators

Lead sponsor

Azienda Sanitaria Universitaria Integrata del Trentino

Other

Registry information

Official study title

Descriptive Analysis of Couples With Polycystic Kidney Disease (PKD) Accessing the Arco Hospital Assisted Reproductive Technology Center for Preimplantation Testing and Comparing Outcomes and Complications in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Couples in Which the Male is a Carrier of the Disease Versus Couples in Which the Female is a Carrier

Acronym: PGT-M PKD

Important dates

Study start
2024
Primary completion
2025
Study completion
2025
First posted
Dec 30, 2025
Registry last updated
Jan 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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