Design and Basic Characteristics of a National Patient-Powered Registry in ADPKD : Kidney360

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Original Investigation: Cystic Kidney Disease

Design and Basic Characteristics of a National Patient-Powered Registry in ADPKD

Hoover, Elise1; Perrone, Ronald D.2; Rusconi, Chris1; Benson, Beverly1; Dahl, Neera K.3; Gitomer, Berenice4; Manelli, Amy1; Mrug, Michal5; Park, Meyeon6; Seliger, Stephen L.7; Phadnis, Milind A.8; Thewarapperuma, Nadeesha8; Watnick, Terry J.7

Author Information
Kidney360 3(8):p 1350-1358, August 25, 2022. | DOI: 10.34067/KID.0002372022
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Key Points 

  • As of October 2021, more than 1500 autosomal dominant polycystic kidney disease (ADPKD) patients have signed up to participate in the ADPKD Registry, which collects patient-reported data.
  • The Registry is a valuable tool for dissemination of information about studies for which individuals may qualify—seven studies so far.
  • By incorporating two validated outcome measures, the ADPKD-IS and ADPKD-PDS, the Registry holds unique data on a national scale.


Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease worldwide. Over the past five years, the therapeutic pipeline for ADPKD has expanded, leading to a growing need for patient enrollment in clinical trials and improved understanding of patient-centered outcomes that can be used in trial design. To advance these goals, the Polycystic Kidney Disease Foundation (PKDF) established a national web-based ADPKD Registry.


The ADPKD Registry is hosted on a secure, HIPAA-compliant, online platform (IQVIA, Participants are consented through the online system and complete a series of modules. The Core Questionnaire includes patient-reported diagnosis, latest creatinine values, and comorbidities. Additional modules include surveys of family history, diet, quality of life, extrarenal manifestations, and attitudes surrounding research participation.


As of October 2021, 1563 ADPKD patients across the United States have registered and completed the Core Questionnaire. Participants have a median age of 44 years and are 72% women, 93% White, with 4% self-identifying as Hispanic/Latino and 2% as Black. All CKD stages are present, including post kidney transplant. To date, seven clinical studies have used the Registry as a recruitment tool. Additionally, quality-of-life burden scores revealed a correlation with disease stage as determined by kidney function.


The Registry described here is the only one of its kind and is a valuable longitudinal research tool encompassing all stages of ADPKD. The registry will allow investigators to pursue a range of research questions related to the management of ADPKD, including definition of health-related quality of life (HRQoL) outcomes and recruitment for a variety of observational and therapeutic clinical protocols.

Visual Abstract



Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease, affects all sexes and races equally, and typically occurs in multiple family members. Imaging prompted by family history, onset of hypertension, or a urologic event usually leads to diagnosis (1). The continuous growth of kidney cysts leads to an exponential growth in total kidney volume (TKV) accompanied by tissue damage and fibrosis and eventual decline in function, resulting in kidney failure.

ADPKD care has advanced over the past decade with insights in disease pathogenesis and the 2018 Food and Drug Administration approval of tolvaptan—the first therapy for slowing disease progression (2). However, additional disease-modifying treatments and more extensive outcomes research to inform clinical care are needed. Challenges to advancing the ADPKD treatment pipeline include the lack of diagnosis, prognostic stratification of patients, patient recruitment for clinical studies, and data to assist with trial design and site selection. Further, there is incomplete understanding of how individuals experience ADPKD and how it affects their health-related quality of life (HRQoL), which may lead to deficits in clinical care. To facilitate ADPKD patient enrollment in clinical trials and to encourage the utilization of HRQoL-related and patient-centered outcomes in trial design, the Polycystic Kidney Disease Foundation (PKDF) established the web-based ADPKD Registry ( (3) to characterize ADPKD in the United States.

In this analysis, we provide a baseline description of the ADPKD Registry and its potential utility for clinical trial recruitment. In addition, we provide representative examples of how this resource may be used to advance our knowledge of ADPKD.

Materials and Methods

The PKDF is a 501(c) (3) organization focused on funding research, advocating for patients, and building a community for all affected by PKD. The Registry is managed through an online platform maintained by IQVIA (4). The IQVIA platform automates and digitizes data capture, reporting, and associated actions through a web browser-based application hosted on a secure server. This server and the policies used to manage the Registry are compliant with 21 Code of Federal Regulations Part 11, Good Clinical Practice, and the Health Insurance Portability and Accountability Act. The platform provides a web interface compatible with desktop, tablet, or mobile devices to maximize accessibility for participants. The Registry protocol, consent, and participation modules are reviewed and approved by the New England Institutional Review Board (5).

Individuals of all ages with a self-reported diagnosis of ADPKD in the United States are invited to participate. The PKDF utilized preexisting email lists, social media, and community events to promote and recruit for the Registry. Exclusion criteria include a diagnosis of autosomal recessive PKD, being a caregiver, an unaffected or genetically tested negative family member (unless representing a pediatric patient), or having other cystic disorders and syndromes. Informed consent or assent (for minors) is a required portion of the registration process, as is an email validation for all participants or their parent/guardians before the first point of data collection. Once registered, participants are asked to fill out the Core Questionnaire (Supplemental Table 1) with demographics, diagnosis, comorbid conditions, current symptoms, kidney function, and history of hypertension. Once complete, other modules become available periodically on the portal home page. Subsequent modules include surveys on diet, lifestyle, ADPKD family history, liver cysts and vascular outcomes, HRQoL, disease-related pain, and attitudes surrounding research participation.

Given the PKDF’s goal of supporting recruitment into ADPKD clinical trials, much of the data collected using the Core Questionnaire pertain to variables commonly used as eligibility criteria. This allows creation of filters on the basis of potential inclusion criteria, creating virtual cohorts of patients for specific clinical studies who then go on to receive relevant informational emails. Permission for this contact is included in the informed consent, and the decision to reach out to the clinical study team is left with the participant. No cohort information, aside from number of potentially eligible participants and number of those who viewed the email (“email engagement rate”) is provided to the sponsor of the supported study.

The Registry includes automated participation notifications; each module asks for longitudinal engagement, and the system prompts the completion of new modules at 3 months, 6 months, or 1 year post baseline on the basis of the pre-specified frequency for the given module. The Registry facilitates participant engagement by allowing viewing of previously completed modules, providing updates (family history module only), and previewing upcoming scheduled modules. In addition, the participant dashboard tab allows participants to view select aggregated results with highlights to show how their answers compare with others.

The Registry protocol, informed consent, and data modules were developed by the PKDF with input and guidance from the Patient Registry Advisory Committee (PRAC) and the Patient Advisory Group (PAG; Supplemental Table 2). The development of each module is facilitated by working groups led by the PKDF Registry team, consisting of members of the PRAC, PAG, and other ad hoc clinicians, researchers, or patient stakeholders, as needed, for the topic. Modules are then implemented by the IQVIA team for beta testing by ADPKD patients for question refinement and identification of system errors before finalization. The final version of each module is approved by the PRAC before release.

Quarterly quality control checks are performed for typos and missing and out-of-range data not captured by the automated system. Logic checks for select items, including verification of creatinine to eGFR calculations using the CKD-EPI creatinine equation (6), age matched with date of birth, and other items of redundancy in modules are meant to act as data quality checkpoints. Deidentified data access is restricted to Registry staff and the PRAC. Processes and policies for data sharing are being developed.

Statistical Methods

Statistical analysis was conducted by collaborators in the Department of Biostatistics and Data Science at the University of Kansas Medical Center (7). Deidentified participant data for modules completed by October 12, 2021, were included in the analysis. Data were cleaned by removing extreme values or textual data in an otherwise numeric column. Continuous variables are reported using the mean, standard deviation, response range, and number of observations, and categorical variables by using frequency tables and bar charts.

For the ADPKD-Pain and Discomfort Scale (ADPKD-PDS) and the ADPKD-Impact Scale (ADPKD-IS), the discomfort interference score and the physical domain score were calculated (on the basis of the licensed user manual). The discomfort interference score is the aggregate average score of five questions, using Likert scale responses ranging from 1 (“not at all”) to 5 (“completely”). The physical domain (/“burden”) score is also an aggregate average of seven questions using a Likert scale. Responses ranged from 1 (“not difficult at all” or “not bothered at all”) to 5 (“extremely difficult” or “extremely bothered”). Before the scores were calculated, data were reviewed for missing responses and for multiple selected options from the available Likert scale values. For presentation of the domain scores, the responses were grouped into the following average response score categories: [1–2), [>2–3), [>3–4), [>4–5), and 5. To investigate the relationship between HRQoL effect and kidney function, Spearman’s ρ correlation coefficient was calculated between chronic kidney disease stage (calculated using participant-reported eGFR) and each scale domain score. Those with unknown kidney function or post-kidney transplant were excluded for the HRQoL analysis.

Data analysis was generated using SAS v9.4 (SAS Institute, Cary, NC). RStudio (RStudio Team, Boston, MA) and Microsoft Excel were used to generate plots.


Participant Characteristics

The Registry had recruited 2131 individuals by October 2021, of whom 1563 were fully enrolled (had completed the Core Questionnaire at baseline). The full schedule of assessments and module activity by participants is represented in Figure 1. Characteristics of the fully enrolled cohort (n=1563) are described in Table 1. Participants ranged from pediatric to adult (between 7 and 82 years of age), with an average age of 44 years. Participants were 72% women and 93% White and were distributed throughout the United States, with nearly 80% reporting a family history of disease. All CKD stages are present, with approximately 24% in stage 1 or 2, 23% in stage 3a or 3b, 12% in stage 4, and 5% in stage 5 (on the basis of self-reported kidney function by eGFR in pre-kidney transplant participants). Approximately 20% indicated they were post-kidney transplant. Seventeen percent reported an unknown eGFR, which translated to an unknown stage of kidney disease.

Figure 1.:
Activity to date for assessments of participants. *Assessment completion reported as of October 12, 2021. A participant was not considered fully enrolled until the Core Questionnaire module was submitted. At that time, all additional module scheduled assessments were available on the IQVIA platform. Each module has a specific frequency (annually, every 6 months, or every 3 months) that is triggered automatically. Participants receive an email notifying them when the new module is available and 7- and 30-day reminders until complete. **n reflects time of first completion; does not include repeat assessments.
Table 1. - Characteristics of fully enrolled ADPKD Registry participants at baseline
Characteristic All Patients (N=1563)
Age, yr, mean (interquartile range) 44.5 (7–82)
Sex, n (%)
 Women 1120 (72)
 Men 438 (28)
 Nonbinary 2 (0.1)
 Transgender man 2 (0.1)
 Transgender woman 1 (0)
Self-described race and ethnicity, n (%)
 White 1425 (93)
 Hispanic/Latinxa 59 (4)
 Black or African American 36 (2)
 Asian 34 (2)
 More than one race selected 25 (2)
 American Indian or Alaska Native 8 (0.5)
 Native Hawaiian or Other Pacific Islander 1 (0)
Diagnostic testing, n (%)b
 Received a genetic test for ADPKD 185 (12)
 Diagnosed by an imaging test 1336 (86)
  Ultrasound 989 (74)
  MRI 201 (15)
  CT 334 (25)
 Not sure/don’t know 78 (6)
Family history, n (%) N=1432
 Positive family history 1139 (80)
  Reported on mother’s side 555 (49)
  Reported on father’s side 572 (50)
 No known family history 190 (13)
 Unknown family history 103 (7)
Geographic area in the United States (8), n (%)
 Midwest 346 (22)
 Northeast 373 (24)
 Southeast 345 (22)
 Southwest 170 (11)
 West 329 (21)
CKD disease stage (9), n (%)
 Stage 1 133 (9
 Stage 2 240 (15)
 Stage 3a 190 (12)
 Stage 3b 172 (11)
 Stage 4 183 (12)
 Stage 5 76 (5)
 Unknown CKD stage 265 (17)
 Post-kidney transplant 304 (20)
ADPKD, autosomal dominant polycystic kidney disease; MRI, magnetic resonance imaging; CT, computed tomography.
aHispanic or Latino ethnicity assessed separately from race; overlap exists.
bParticipants could select more than one for diagnostic testing.

Clinical Trial Recruitment Utility

The Registry is a unique recruitment database that identifies potentially eligible clinical trial participants. The current cohort includes many participants who meet enrollment requirements for several current large clinical studies (Table 2). The Registry increases accessibility to research for participants by engaging them in the significance of both clinical trials and patient-reported outcomes research and introducing additional opportunities for involvement.

Table 2. - Registry participant eligibility for currently enrolling ADPKD clinical trials
Compound and Identifier Relevant Eligibility Criteria Number of Potentially Eligible Registry Participants
Age, yr eGFR, ml/min per 1.73 m2 BMI, kg/m2
Bardoxolone methyl (NCT03918447) 18–70 30–90 >18.5 1097
Caloric restriction (NCT04534985) 18–65 >30 25–45 337
Lixivaptan—ACTION (NCT04064346) 18–60 25–90 18–40 1101
Lixivaptan—The ALERT Study (NCT04152837) 18–65 >20 18–35 1109
Pravastatin (NCT03273413) 25–60 >60 n/a 788
RGLS4326 (NCT04536688) 18–70 30–90 18–35 1097
Study inclusion criteria accurate as of October 12, 2021. Counts of those with unknown eGFR values were included if they met other eligibility criteria (e.g., age, no history of kidney transplant or dialysis). This is not intended to be a comprehensive list, and only includes those studies with open enrollment in October 2021 in the United States, studying ADPKD exclusively and those with current collaborative recruitment efforts with the PKD Foundation. ADPDK, autosomal dominant polycystic kidney disease.

Between August 2020 and October 2021, seven studies utilized the Registry for recruitment (Table 3). Of these, three were observational focusing on health-related decision making, cerebral aneurysms, and recruitment for a pediatric registry. Four studies—two phase 3, one phase 4/drug repurposing, and one dietary intervention—were interventional. Email engagement (open) rate ranged between 57% and 79%, with little differentiation between study types. Thus far, more than 2300 total patient contacts (some overlapping) have been made.

Table 3. - Studies using the ADPKD Registry for recruitment
Date Criteria Type of Study Emails Sent Emails Opened, %
August 2020 Age 18–65, eGFR 30–90 Intervention—caloric restriction (NCT04534985) 612 70
October 2020 Nearing pre-emptive transplant Intervention—FREEDOM-1 (NCT03995901) 287 68
October 2020 On dialysis Observational—academic institution survey 45 58
February 2021 Pediatric Observational—pediatric ADPKD registry (NCT04338048) 16 62
March 2021 Age 25–60, eGFR >60 Intervention—pravastatin (NCT03273413) 615 70
April 2021 Age 18–70, eGFR 30–90 Intervention—bardoxolone methyl (NCT03918447) 745 73
September 2021 History of aneurysms Observational—genetic and medical record for academic institution 37 78
Email communication with participant cohorts managed by IQVIA platform so as to protect patient name and contact information. eGFR units in ml/min per 1.73 m2. Recruitment efforts initiated upon request by principal investigator. ADPKD, autosomal dominant polycystic kidney disease.

A week after each recruitment, the same cohorts were sent a module probing their views of the research study, their decision to participate, barriers to enrollment, and overall perceptions of research participation. When asked about motivations to participate in ADPKD research generally, 73% of 504 respondents (Figure 2) chose the advancement of science and a treatment for PKD. Recipients were also asked whether they intended to reach out to the study team for the given study and the reasons why or why not. As might be expected, in 2020 and early 2021, >50% reported that they chose not to reach out due to coronavirus disease–related concerns. Understanding these barriers provided important content and will be informative in evolving recruitment strategies.

Figure 2.:
Motivation to participate in polycystic kidney disease (PKD) research. Survey sent out through Registry platform 1 week after each study-specific communication. Results are combined and not study specific.

Effect of Pain on Quality of Life

Data from 738 participants completing both the ADPKD-PDS (10) and Core Questionnaire modules were used to demonstrate the effect of pain on HRQoL, stratified by patient-reported kidney function (Figure 3). For each burden score, the higher the value, the higher the effect on quality of life–specific factors. The discomfort burden (chronic fullness/pressure) was observed with moderate effect throughout the cohort, although with a strong statistical correlation with disease stage (r=–0.17; P<0.001). Notably, most participants reported only minimal discomfort interference regardless of CKD stage, aside from stage 4 patients, who experienced a larger perceived discomfort burden than their co-participants (50% with a low effect [score of 1–2], and >40% reporting a score between >2 and 4). The highest reportable burden (score of 5) was only observed in a small number of stage 3a participants.

Figure 3.:
Discomfort interference impact score by CKD stage. The score was calculated using the ADPKD-Pain and Discomfort Scale health-related quality of life (HRQoL) outcome assessment. The questions that made up the discomfort interference score include interference performing mild physical activities, moderate physical activity, bending/stretching, eating or appetite, and relationships with other people. A score of 1 corresponds to the lowest level of discomfort, with a 5 indicating extremely difficult or bothered. Those with unknown kidney function or post-kidney transplant were excluded from the analysis.

Disease stage stratification can also be applied to the ADPKD-IS outcomes module (11), which seeks to measure the PKD-specific physical, emotional, and fatigue affects HRQoL. A total of 818 participants answered both the ADPKD-IS and Core Questionnaire modules (Figure 4). We next examined the association between disease stage and domain score and observed a moderately lower proportion of participants reporting low burden scores (score of 1–2) with higher stages of kidney disease, with just 45% of participants in stage 4 or 5 reporting a score of 1–2 compared with 75% of patients with stage 1 kidney disease reporting this low symptom burden (r=–0.25; P<0.001). Again, however, we observe the highest burden score in only a small subset of patients. By measuring these effects quarterly, the Registry will begin to observe how burden changes over time at the individual patient level with correlation to disease progression.

Figure 4.:
Physical domain impact score by CKD stage. The physical domain impact score (physical burden) was calculated using the ADPKD-Impact Scale HRQoL outcome assessment. The questions that made up the physical domain score include difficulty in engaging in leisure activities, completing a full day’s work at job or home, conducting daily activities as usual regardless of pain, completing everything in a day due to tiredness or exhaustion, performing intense physical activities, and bothered by PKD-related pain. A score of 1 corresponds to the lowest physical burden, with a 5 indicating extremely difficult or bothered. Those with unknown kidney function or post-kidney transplant were excluded.

In Table 4, frequencies of several ADPKD disease manifestations in clinical-reported studies are compared with those in the Registry to understand how Registry data compare to the published literature. In most cases, we observe consistency between the Registry data and these studies (four single center and one multicenter) between 1992 and 2017.

Table 4. - Frequencies of disease manifestations in ADPKD in clinical-reported studies compared with those in the Registry
Data Source Year Self/ Clinical Single/ Multicenter Subjects Family History of ADPKD, % Urinary Tract Infections, % Hypertension, % Presence of Liver Cysts, % History of Cerebral Aneurysm, %
ADPKD Registry 2021 Self n/a 1327 80 22 80 63 6
Gabow (12) 1992 Clinical Single 580 44 70 49 21
Thong (13) 2013 Clinical Single 565 79 27 70 56 5
Chen (14) 2014 Clinical Single 541 75 67 72
Eriksson (15) 2017 Clinical Multicenter 266 65 26 5
Gabow clinical site was the University of Colorado in Denver. Thong clinical site was the Sheffield Kidney Institute in the United Kingdom. Chen clinical site was Changzheng Hospital in Shanghai, People’s Republic of China. Eriksson was at nine clinics (four in Denmark, one in Finland, two in Norway, and two in Sweden). ADPKD, autosomal dominant polycystic kidney disease.


We created a registry for participants with ADPKD to self-report aspects of their disease and its effect, including kidney function, pain, and HRQoL measures. Information was collected from 1563 participants with a wide range of ages, disease stages, and geographic distribution throughout the United States. In addition to finding associations between CKD stage and pain or functional status, we determined the proportion of participants who might be eligible for active clinical trials in the United States. We were also able to survey confidentially the interest level for several new trials and ascertain the reasons why participants might be hesitant to participate. This patient-driven registry provides a new tool to monitor the effect of ADPKD in the United States and facilitates recruitment for clinical trials or observational studies.

Additionally, we have included in our outcome assessments the only two PKD-specific patient-reported outcome measures—the ADPKD-PDS (10) and the ADPKD-IS (11)—which are valuable tools to understand HRQoL at various stages of disease. With a limited recall period, the discomfort interference score from the ADPKD-PDS provides a baseline for participants, although interpretation may be complicated by unreported elements, such as pain events, TKV, or unrelated mitigating factors. We found that both discomfort burden and physical burden only partially correlated with CKD disease stage, which was calculated from patient-reported kidney function. We did note a moderate increase in higher physical burden scores as CKD stages progressed, particularly starting at stage 3B, which is similar to what was reported during tool validation by Oberdhan et al. (11). The Registry did not collect TKV or total liver volume data that may give more insight into either discomfort or physical burden.

Previously published data, however, may lessen the limitations of our inability to stratify by organ size in these analyses. An analysis of data from the HALT PKD trial, including 1043 participants, found that abdominal pain correlated with kidney function as measured by eGFR, and not with kidney or liver size (although only a subset of participants [n=558] had available TKV data) (16). Similarly, an analysis of data from the TAME PKD trial found no correlation between kidney or liver size with HRQoL in a cohort of 97 participants (17). Regardless, relevant potential limitations remain in our dataset due to possible errors in participant-reported serum creatinine, the relatively small number of participants in our cohort with advanced CKD, or self-selection of volunteers for this online registry with relatively higher HRQoL. For example, only 40 patients in stage 5 have completed the ADPKD-IS module. We anticipate that increasing participant accrual and longitudinal assessment of HRQoL data will permit more robust assessment of this important component of ADPKD patient experience.

The Registry also provides an opportunity to accelerate clinical research by advancing knowledge and treatments for ADPKD. As part of the informed consent, participants provide permission for contact regarding clinical trials for which they may be eligible. Between August 2020 and September 2021, the Registry has assisted in recruitment for seven clinical studies, ranging from interventional to observational protocols. To protect the privacy and confidentiality of Registry participants, we cannot confirm (identify) the patients who contacted the clinical study team, who were screened for the study, or who were ultimately enrolled. However, the high email engagement rates (between 58% and 78%) demonstrate the power of the Registry to increase awareness of clinical research studies and to advance recruitment, especially in the future when the coronavirus disease pandemic may no longer be a barrier. As the number of clinical studies increases, we anticipate that the value of the ADPKD Registry to the ADPKD research and clinical communities will grow.

An online registry such as this one has several advantages. It allows participants who might otherwise not join a research study due to the challenge of travel to a clinical site or family or work commitments to contribute their data. In addition, the portal allows for dynamic accrual of data, including the collection of longitudinal data and the addition of new modules that capture the effect of new health care–related events on ADPKD. The site is interactive, permitting participants to view aggregated data, which has the potential to increase ongoing engagement.

This Registry as a whole also has limitations that are highlighted in the representative analyses provided. The self-reported data may have issues with accuracy or recall. The completion rates for some modules were low compared with overall cohort size, which may make our analyses prone to selection bias. Kidney function values are also not only prone to recall bias but may be complicated by lack of uniformity across multiple clinical sites or adverse events that might affect kidney function in the short term. As with many clinical studies, the demographics of registry participants, although diverse with respect to disease stage and geography, may not be fully representative of the patient community in the United States. Our cohort includes substantially more women than men, and ethnic and racial diversity remains limited.

In launching the Registry, the PKDF aimed to empower patients to share their disease experience and the effect of PKD on their HRQoL and to increase the opportunities to participate in research. Analysis of the initial cohort reveals that patients from all CKD stages are willing and eager to contribute to the body of knowledge in ADPKD. The Registry will continue aggressive outreach to enroll an expanded and more diverse population of participants and to encourage completion of new and repeating modules. Our strategies for promoting patient engagement include refinement of a participant-facing data dashboard, quarterly newsletters, and annual reports. We also plan to implement strategies such as peer ambassador outreach and local community partnerships to increase diversity and inclusion of underrepresented groups.

Patient registries have proven to be a valuable research tool, especially when designed to include longitudinal data collection and patient-relevant outcome measures (18). In ADPKD, a comprehensive registry of patients at various disease stages has the potential to provide new insights into disease progression and HRQoL outcomes. As a chronic, slowly progressing disease, individuals affected by ADPKD will often lead a normal life for decades before experiencing kidney failure. A longitudinal database, such as the ADPKD Registry, is key to understanding the full patient journey.


B. Benson reports being a member of the Polycystic Kidney Disease Foundation (PKDF) Board of Directors (unpaid position) and the Northeastern University Biotechnology Center of Excellence Scientific Advisory Board. N.K. Dahl reports consultancy for Otsuka Pharmaceuticals and Vertex; research funding as a PI for clinical trials sponsored by Allena, Kadmon, Reata, Regulus, and Sanofi; honoraria from AstraZeneca, the National Kidney Foundation, and Otsuka Pharmaceutical; an advisory or leadership role for the Natera Scientific Advisory Board and the PKDF; participation in a speakers’ bureau for Otsuka; and other interests or relationships with the Medical Advisory Board, NKF NE Chapter. B. Gitomer reports honoraria from the Department of Defense UD study section and the National Institute of Diabetes and Digestive and Kidney Diseases for study section participation; and an advisory or leadership role for CJASN (editorial board member) and the PKDF (member of the Scientific Advisory Council). E. Hoover reports being an employee of the PKDF. M. Mrug reports consultancy for Caraway Therapeutics, Chinook, Goldilocks Therapeutics, Natera, Otsuka Corp., Reata, and Sanofi; research funding from Chinook, Goldilocks Therapeutics, Otsuka Corp., Palladio, and Sanofi; honoraria from Chinook, Natera, Otsuka Corp., Reata, and Sanofi; and an advisory or leadership role for Carraway Therapeutics (advisory board), Goldilocks Therapeutics (advisory board), the PKDF, Sanofi (STAGED-PKD steering committee), and Santa Barbara Nutrients (advisory board). M. Park reports consultancy for Abalone Bio and Acelink Therapeutics; ownership interest in Merck (spouse); honoraria from Grand Rounds and Healthcare Consultancy Group; and other interests or relationships with Kadmon (site PI for tesevatinib trial), Reata (site PI for bardoxolone FALCON trial), Sanofi (site PI for venglustat SAVEPKD trial [now terminated]), and being an advisory board participant for Otsuka, Reata, and Sanofi. R.D. Perrone reports consultancy for Caraway, Navitor, Otsuka, Palladiobio, Reata, Sanofi-Genzyme; research funding from Kadmon, Palladiobio, Reata, and Sanofi; honoraria from Otsuka, Reata, and Sanofi-Genzyme; an advisory or leadership role for Otsuka, PalladioBio, and Sanofi-Genzyme; participation in a speakers’ bureau for Haymarket Media; and other interests or relationships with the Critical Path Institute, the PKDF, and UpToDate. C. Rusconi reports being an employee of the PKDF. S.L. Seliger reports consultancy for Tricida, Inc. (Endpoint Adjudication Committee); research funding from Kadmon Pharmaceuticals, Palladio Biosciences, Reata, Roche Diagnostics, Inc., and Sanofi US; patents or royalties from the University of Maryland, Baltimore, and University of Texas, Southwestern (Methods for Assessing Differential Risk for Developing Heart Failure); and an advisory or leadership role for Circulation (member of the editorial board), CJASN (associate editor), Endpoint Adjudication Committee (member), ESRD Network 5 (member), the Medical Review Board (member), and Tricida, Inc. (VALOR-CKD trial). T.J. Watnick reports research funding for clinical trials sponsored by Palladio Biosciences and from Reata (study site for the Falcon Study); patents or royalties from AThena Diagnostics (PKD DNA testing) and UpToDate (royalties declined); an advisory or leadership role for JASN (editorial board) and the PKDF Registry (Scientific Advisory Committee); and serving on advisory committees for the PKDF. All remaining authors have nothing to disclose.


E. Hoover received funding for this study from the PKD Foundation. The ADPKD Registry is funded by the PKD Foundation


We would like to thank the ADPKD community for participating in this Registry to make this research possible.

Author Contributions

B. Benson, N.K. Dahl, B. Gitomer, E. Hoover, A. Manelli, M. Mrug, M. Park, R.D. Perrone, C. Rusconi, S.L. Seliger, and T.J. Watnick were responsible for conceptualization; E. Hoover was responsible for project administration; E. Hoover, M.A. Phadnis, and N. Thewarapperuma were responsible for data curation; E. Hoover, R.D. Perrone, and T.J. Watnick were responsible for the methodology and wrote the original draft of the manuscript; M.A. Phadnis and N. Thewarapperuma were responsible for formal analysis; C. Rusconi and T.J. Watnick were responsible for supervision; T.J. Watnick was responsible for the investigation; and all authors reviewed and edited the manuscript.

Supplemental Material

This article contains the following supplemental material online at

Supplemental Table 1. Data dictionaries for core questionnaire.

Supplemental Table 2. Advisory group members.


1. Vicente E, Torres MD, William M, Bennett MD: Diagnosis of and Screening for Autosomal Dominant Polycystic Kidney Disease. Available at: Accessed July 15, 2021
2. Chebib FT, Torres VE: Recent advances in the management of autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 13: 1765–1776, 2018
3. Autosomal Dominant Polycystic Kidney Disease (ADPKD) Registry Portal. Available at: Accessed October 12, 2021
4. IQVIA, Inc.: Available at: Accessed October 12, 2021
5. WCG IRB: Available at: Accessed November 17, 2021
6. National Kidney Foundation: National Kidney Foundation eGFR Equation. Available at: Accessed October 21, 2021
7. KUMC: Available at: Accessed October 12, 2021
8. National Geographic Resource Library: United States Regions. Available at:,West%2C%20Southeast%2C%20and%20Midwest. Accessed October 12, 2021
9. National Kidney Foundation: National Kidney Foundation practice guidelines for chronic kidney disease: Evaluation, classification, and stratification. Available at: Accessed October 12, 2021
10. eProvide: ADPKD-PDS—Autosomal Dominant Polycystic Kidney Disease Pain and Discomfort Scale. Available at: Accessed March 1, 2021
11. Oberdhan D, Cole JC, Krasa HB, Cheng R, Czerwiec FS, Hays RD, Chapman AB, Perrone RD: Development of the Autosomal Dominant Polycystic Kidney Disease Impact Scale: A new health-related quality-of-life instrument. Am J Kidney Dis 71: 225–235, 2018
12. Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT, Jones RH: Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int 41: 1311–1319, 1992
13. Thong KM, Ong AC: The natural history of autosomal dominant polycystic kidney disease: 30-year experience from a single centre. QJM 106: 639–646, 2013
14. Chen D, Ma Y, Wang X, Yu S, Li L, Dai B, Mao Z, Sun L, Xu C, Rong S, Tang M, Zhao H, Liu H, Serra AL, Graf N, Liu S, Wüthrich RP, Mei C: Clinical characteristics and disease predictors of a large Chinese cohort of patients with autosomal dominant polycystic kidney disease. PLoS One 9: e92232, 2014
15. Eriksson D, Karlsson L, Eklund O, Dieperink H, Honkanen E, Melin J, Selvig K, Lundberg J: Health-related quality of life across all stages of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 32: 2106–2111, 2017
16. Miskulin DC, Abebe KZ, Chapman AB, Perrone RD, Steinman TI, Torres VE, Bae KT, Braun W, Winklhofer FT, Hogan MC, Rahbari-Oskoui F, Moore CG, Flessner MF, Schrier RW; HALT-PKD Study: Health-related quality of life in patients with autosomal dominant polycystic kidney disease and CKD stages 1–4: A cross-sectional study. Am J Kidney Dis 63: 214–226, 2014
17. Seliger SL, Watnick T, Althouse AD, Perrone RD, Abebe KZ, Hallows KR, Miskulin DC, Bae KT: Baseline characteristics and patient-reported outcomes of ADPKD patients in the multicenter TAME-PKD clinical trial. Kidney360 1: 1363–1372, 2020
18. Jansen-van der Weide MC, Gaasterland CMW, Roes KCB, Pontes C, Vives R, Sancho A, Nikolakopoulos S, Vermeulen E, van der Lee JH: Rare disease registries: Potential applications towards impact on development of new drug treatments. Orphanet J Rare Dis 13: 154, 2018

cystic kidney disease; ADPKD; kidney disease; outcomes; polycystic kidney disease; quality of life; registries

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