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

NCT07310641 | Completed

• 1 other identifier: 28258
• Study Type: observational
• Target: 44
• Locations: 1 country
• Sites: 1

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:
• Undergone ART procedures including ovarian stimulation, oocyte retrieval, fertilization, embryo biopsy, and transfer of embryos free of the pathogenic mutation.
• Received genetic counseling and preimplantation genetic testing for monogenic diseases (PGT-M).
• 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)

Outcome Measures

Primary Outcomes (1)

• Live birth or ongoing pregnancy at term during the observation period

  From January 2018 to July 2024

Secondary Outcomes (4)

• Live birth - ongoing pregnancy

  From January 2018 to July 2024

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

  From January 2018 to July 2024

• Incidence of pregnancy complications in the two cohorts

  From January 2018 to July 2024

• Number of miscarriages in each cohort

  From January 2018 to July 2024

Study Arms (2)

Subjects with autosomal dominant polycystic kidney disease

Procedure: Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Subjects with autosomal recessive polycystic kidney disease

Procedure: Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Interventions

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases PROCEDURE

Assisted reproductive technology and preimplantation diagnosis for monogenic diseases

Subjects with autosomal dominant polycystic kidney disease; Subjects with autosomal recessive polycystic kidney disease

Eligibility Criteria

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

Study Population

Couples carrying polycystic kidney disease referred to the ART center at Arco Hospital, seeking to undergo preimplantation genetic testing and achieve a pregnancy.

You may qualify if:

• \> 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Azienda Sanitaria Universitaria Integrata del Trentino: lead

Study Sites (1)

Ospedale di Arco

Arco, Trento, 38062, Italy

Location

MeSH Terms

Conditions

Polycystic Kidney Diseases

Interventions

Reproductive Techniques, Assisted

Condition Hierarchy (Ancestors)

Kidney Diseases, Cystic; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ciliopathies; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Reproductive Techniques; Therapeutics; Investigative Techniques

Study Design

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

Study Record Dates

• First Submitted: December 16, 2025
• First Posted: December 30, 2025
• Study Start: December 30, 2024
• Primary Completion: May 6, 2025
• Study Completion: May 6, 2025
• Last Updated: January 5, 2026

Record last verified: 2025-12

Locations

IT (1)