Genetic Testing in Autosomal Dominant Polycystic Kidney Disease

NCT06085807 | Completed

• 1 other identifier: P0568093
• Study Type: observational
• Target: 226
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

ADPKD

Outcome Measures

Primary Outcomes (1)

• 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.

Study Arms (2)

Patients with ADPKD

The participants will receive a survey.

Other: Survey

Family members of patients with ADPKD

The family members of participants will receive a survey.

Other: Survey

Interventions

Survey OTHER

Groups will receive a survey to assess attitudes about diagnosis, treatment, and genetic testing in ADPKD.

Family members of patients with ADPKD; Patients with ADPKD

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Individuals affected by ADPKD and their family members

You may qualify if:

• Diagnosis of ADPKD

Sponsors & Collaborators

• University of California, San Francisco: lead

Study Sites (1)

UCSF

San Francisco, California, 94143, United States

Location

MeSH Terms

Conditions

Polycystic Kidney, Autosomal Dominant

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Polycystic Kidney Diseases; 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)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Meyeon Park, MD

  University of California, San Francisco

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: October 2, 2023
• First Posted: October 17, 2023
• Study Start: June 1, 2023
• Primary Completion: October 31, 2024
• Study Completion: December 10, 2024
• Last Updated: December 16, 2024

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)