Genetic Testing in Autosomal Dominant Polycystic Kidney Disease

NCT ID: NCT06085807

Last Updated: 2024-12-16

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 226 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-06-01
• Study Completion Date: 2024-12-10

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

Study Design

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

Study Groups

Patients with ADPKD

The participants will receive a survey.

Survey

Intervention Type: OTHER

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.

Survey

Intervention Type: OTHER

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

Interventions

Survey

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

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Diagnosis of ADPKD

Exclusion Criteria

-

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University of California, San Francisco

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Meyeon Park, MD

Role: PRINCIPAL_INVESTIGATOR

University of California, San Francisco

Locations

UCSF

San Francisco, California, United States

Countries

United States

Other Identifiers

P0568093

Identifier Type: -

Identifier Source: org_study_id