Genetic Testing in Autosomal Dominant Polycystic Kidney Disease

Using Culturally-sensitive Discussions and Genetic Testing to Improve Access to Early Autosomal Dominant Polycystic Kidney Disease Care and Improve Health Disparities

Individuals with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD) often have a family history of the condition although up to 10-15% of cases are sporadic mutations. The investigators recently conducted an analysis of the investigators clinic population to determine percentages of individuals who have undergone kidney imaging and genetic testing and determined total numbers of patients eligible for tolvaptan and those currently active on tolvaptan. The study team found large racial discrepancies in usage of tolvaptan and found that more patients are eligible for tolvaptan than are currently taking the medication. Reasons for this are often due to patient perception about the medication rather than treatment failure. There is a strong medical need to understand reasons for underuse of this critical medication in this population. Among those with genetic testing, the study team found large disparities in ethnic background between individuals offered genetic testing who accept versus decline testing. The study team also found that those who choose to pursue genetic testing are more likely to have no family history of the condition, presumably because the diagnosis is more "surprising" to them and thus desire for verification by genetic testing, if possible, is greater. However, it is known that genetic testing can be an important component of understanding of disease biology in all patients with ADPKD, while also providing important clinical information in some cases as individuals prepare for living donor transplantation or family planning. The investigators seek to understand barriers to use of tolvaptan and genetic testing among individuals in the clinic population and their relatives across a wide range of racial and ethnic backgrounds. The investigators hypothesize that anxiety about genetic conditions in particular is a barrier to accepting testing. The investigators seek to understand the mental health aspects of the diagnosis of ADPKD. They will also evaluate changes in symptoms compared to pre-treatment after initiation of tolvaptan in eligible individuals using qualitative techniques. In so doing, the study team hope to improve care for current patients and also to expand the pool of the clinic population to include newly diagnosed family members ideally at early stages of disease.

Study Overview

• Status: Completed
• Conditions: ADPKD
• Intervention / Treatment: Other: Survey

• Study Type: Observational
• Enrollment (Actual): 226

Contacts and Locations

Study Locations

• United States
  • California
    • San Francisco, California, United States, 94143
      • UCSF

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

Individuals affected by ADPKD and their family members

Description

Inclusion Criteria:

• Diagnosis of ADPKD

Exclusion Criteria:

-

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with ADPKD; The participants will receive a survey.	Other: Survey; Groups will receive a survey to assess attitudes about diagnosis, treatment, and genetic testing in ADPKD.
Family members of patients with ADPKD; The family members of participants will receive a survey.	Other: Survey; Groups will receive a survey to assess attitudes about diagnosis, treatment, and genetic testing in ADPKD.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Questionnaire responses regarding anxiety, genetics, and genetic testing attitudes in PKD participants and family members.	The survey incorporates the GAD4 questionnaire, which has scores graded from 0-3. It also includes questions graded on a Likert scale (1-5). The outcome measures will be reported as mean (SD) for each question on the survey. The investigators have developed a survey entitled "Anxiety, genetics, and polycystic kidney disease" incorporating elements of the GAD-4 questionnaire and tools developed by Lidewij Henneman to evaluate genetic testing attitudes among the general public.	The investigators will administer one baseline survey over a recruitment time frame of 4 weeks and thereafter solicit family member participation for one-time survey measurements through study completion, up to one year.

Collaborators and Investigators

• Sponsor: University of California, San Francisco
• Investigators: Principal Investigator: Meyeon Park, MD, University of California, San Francisco

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2023
• Primary Completion (Actual): October 31, 2024
• Study Completion (Actual): December 10, 2024

Study Registration Dates

• First Submitted: October 2, 2023
• First Submitted That Met QC Criteria: October 10, 2023
• First Posted (Actual): October 17, 2023

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: December 10, 2024
• Last Verified: December 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Ciliopathies; Urogenital Diseases; Male Urogenital Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Genetic Diseases, Inborn; Congenital Abnormalities; Abnormalities, Multiple; Kidney Diseases, Cystic; Kidney Diseases; Polycystic Kidney Diseases; Polycystic Kidney, Autosomal Dominant
• Other Study ID Numbers: P0568093

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: IPD not being shared.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No