ADPKDNCT06085807
Genetic Testing in Autosomal Dominant Polycystic Kidney Disease
An observational study of ADPKD, run by University of California, San Francisco at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- ADPKD
- What is being tested?
- Survey
- How many people
- 226 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Jun 2023to 10 Dec 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Individuals affected by ADPKD and their family members
Who may be able to join
- Diagnosis of ADPKD
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
- Conditions
- ADPKD
- Being tested
- Survey
- Medical subject headings
- Polycystic Kidney, Autosomal Dominant
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SurveyOther
Groups will receive a survey to assess attitudes about diagnosis, treatment, and genetic testing in ADPKD.
| Study group | Role | What they receive |
|---|---|---|
| Patients with ADPKD | The participants will receive a survey. Receives: Other: Survey | |
| Family members of patients with ADPKD | The family members of participants will receive a survey. Receives: Other: Survey |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Oct 2023
- Study start1 Jun 2023
- Primary completion31 Oct 2024
- Study completion10 Dec 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for ADPKDStudies of the same condition, open and under way.
- More trials run by University of California, San FranciscoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 226 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of California, San Francisco
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Meyeon Park, MD, Principal investigator, University of California, San Francisco
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06085807
- Sponsor's protocol ID
- P0568093
- Status last verified
- Dec 2024
- First submitted
- 2 Oct 2023
- Last updated
- 16 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: IPD not being shared.
Study at a glance
From the registry record, last updated by the sponsor on 16 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Using Culturally-sensitive Discussions and Genetic Testing to Improve Access to Early Autosomal Dominant Polycystic Kidney Disease Care and Improve Health Disparities
- ClinicalTrials.gov ID
- NCT06085807
- Acronym / sponsor ID
- P0568093
- Conditions
- ADPKD
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 226 participants (actual)
- Lead sponsor
- University of California, San FranciscoUniversity, hospital or other
- Study start
- 1 Jun 2023 (actual)
- Primary completion
- 31 Oct 2024 (actual)
- Study completion
- 10 Dec 2024 (actual)
- First posted
- 17 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with ADPKD | – | Other: SurveyThe participants will receive a survey. |
| Family members of patients with ADPKD | – | Other: SurveyThe family members of participants will receive a survey. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Individuals affected by ADPKD and their family members
Key inclusion criteria (1 listed)
- Diagnosis of ADPKD
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SurveyGroups will receive a survey to assess attitudes about diagnosis, treatment, and genetic testing in ADPKD. | Other | Family members of patients with ADPKD, Patients with ADPKD |
Primary outcome
Questionnaire responses regarding anxiety, genetics, and genetic testing attitudes in PKD participants and family members.
Time frame: 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.
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Dec 2024.
- Individual participant dataSharing planned: No. IPD not being shared.
Related trials for ADPKD
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Meyeon Park, MD principal investigator
University of California, San Francisco
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of ADPKD, run by University of California, San Francisco at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Questionnaire responses regarding anxiety, genetics, and genetic testing attitudes in PKD participants and family members. (time frame: 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.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Dec 2024.