Autosomal Dominant Polycystic Kidney Disease (ADPKD)NCT06747572
Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease
An observational study of Autosomal Dominant Polycystic Kidney Disease (ADPKD), run by Vertex Pharmaceuticals Incorporated at 45 sites in 9 countries.
Trial summary
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population. Read more about this study
- Who is it for?
- Ages 12 to 65 years
- Conditions the study is for
- Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- How many people
- 401 participants
- Where
- 45 sitesin 9 countries
- Study dates
- 19 Dec 2024to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 12 to 65 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Part A: Male and female participants aged 12 to 65 years old, inclusive, diagnosed with ADPKD who have not reached end stage kidney disease (ESKD). Part B: Male and female participants aged 12 to 65 years old, inclusive, who have completed Part A and who have genotyping results confirming an eligible non-truncating variant in PKD1 and who are at risk for rapidly progressive disease, based upon historical total kidney volume (TKV) or kidney length.
Who may be able to join
- Estimated glomerular filtration rate (eGFR) greater than or equal to (≥) 30 milliliter per minute (mL/min)/1.73 m^2
- Willing and able to comply with scheduled visits and other study procedures
- A pre-existing diagnosis of ADPKD as defined in the protocol
Who cannot join
- History of kidney disease other than ADPKD that in the opinion of the investigator would independently impact the natural history of ADPKD
- History of solid organ or bone marrow transplantation or nephrectomy
- Ongoing renal replacement therapy or planning to start renal replacement therapy less than or equal to (≤)12 months from the Genotyping Visit in Part A
- Other protocol defined Inclusion/Exclusion criteria will apply.
Trial locations and contacts
45 sites in 9 countries.
45 sites in 9 countries
United States27 sites
Alabama Kidney Research
Alabaster, Alabama, 35007
Emory School of Medicine - Renal Division
Atlanta, Georgia, 30308
General Clinical Research Center, University of Maryland Baltimore
Baltimore, Maryland, 21201
University of Alabama at Birmingham- Nephrology Research Clinic
Birmingham, Alabama, 35294
Tufts Medical Center
Boston, Massachusetts, 02111
Beth Israel Deaconess Medical Center - Nephrology
Boston, Massachusetts, 02215
UVM Medical Center - 1 South Prospect Street
Burlington, Vermont, 05401
UChicago Medicine - Duchossois Center for Advanced Medicine - Nephrology
Chicago, Illinois, 60637
Renal Associates, LLC
Columbus, Georgia, 31904
Geisinger Clinic
Danville, Pennsylvania, 17822
Quest Research Institute
Farmington Hills, Michigan, 48334
Nature Coast Clinical Research - Inverness
Inverness, Florida, 34452
University of Iowa Health Care Medical Center- Nephrology
Iowa City, Iowa, 52242
Mayo Clinic - Jacksonville
Jacksonville, Florida, 32224
Clinical & Translational Science Unit (CTSU) - Nephrology
Kansas City, Kansas, 66160
DaVita Clinical Research
Las Vegas, Nevada, 89107
Kaiser Permanente - Los Angeles Medical Center
Los Angeles, California, 90027
UCLA Division of Nephrology
Los Angeles, California, 90095
Nephrology & Hypertension Associates, PC
Middlebury, Connecticut, 06762
University of Minnesota -Health Clinical Research Unit
Minneapolis, Minnesota, 55455
Nephrology Clinical Trials Center
Nashville, Tennessee, 37232
Yale Nephrology Clinical Research Clinic
New Haven, Connecticut, 06510
Columbia University Medical Center
New York, New York, 10032
Perelman Center for Advanced Medicine - Nephrology
Philadelphia, Pennsylvania, 19104
Mayo Clinic - Rochester
Rochester, Minnesota, 55905
Helen Diller Medical Center at Parnassus Heights
San Francisco, California, 94143
Swedish Center for Comprehensive Care
Seattle, Washington, 98104
United Kingdom6 sites
Queen Elizabeth Hospital Birmingham
Birmingham
King's College Hospital
London
Royal Free Hospital - Nephrology
London
St Georges University Hospitals NHS Foundation Trust
London
Newcastle upon Tyne Hospitals NHS Foundation Trust - Freeman Hospital - Nephrology
Newcastle upon Tyne
Northern General Hospital
Sheffield
Belgium2 sites
Universite Catholique de Louvain, Cliniques universitaires Saint-Luc (UCLouvain)
Brussels
Universitaire Ziekenhuizen Leuven
Leuven
Canada2 sites
St. Joseph's Healthcare - Hamilton
Hamilton
MUHC - Montreal Children's Hospital
Montreal
Germany2 sites
Charité - Klinik für Nephrologie und Intensivmedizin der
Berlin
Universitaetsklinik Koeln Department II of Internal Medicine
Cologne
Netherlands2 sites
UMCG - Nephrology
Groningen
Erasmus Medisch Centrum - Nephrology
Rotterdam
About this study
Official title: A Study to Determine the Prevalence and Clinical Characteristics Associated With PKD1 Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
- Keywords
- ADPKD
- 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.
| Study group | Role | What they receive |
|---|---|---|
| Part A | Eligible participants will complete a single visit to complete a blood sample collection for PKD1/2 genotyping. | |
| Part B | Participants who have completed all assessments in Part A and have a subset of variants in PKD1 will complete 1 year of follow-up. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Part A: Percentage of PKD1 Gene Variant Groups in the ADPKD Population
Measured: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Weight of Participants Within Each PKD1 Gene Variant Group
Measured: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Height of Participants Within Each PKD1 Gene Variant Group
Measured: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Body Mass Index (BMI) of Participants Within Each PKD1 Gene Variant Group
Measured: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Age of Participants at ADPKD Diagnosis Within Each PKD1 Gene Variant Group
Measured: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Dec 2024
- Study start19 Dec 2024
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autosomal Dominant Polycystic Kidney Disease (ADPKD)Studies of the same condition, open and under way.
- More trials run by Vertex Pharmaceuticals IncorporatedThe 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
- 401 participants (actual)
Sponsor and investigators
- Lead sponsor
- Vertex Pharmaceuticals Incorporated
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06747572
- Sponsor's protocol ID
- VX24-KDO-901
- Other IDs
- NL88429.078.24
- Status last verified
- Oct 2026
- First submitted
- 10 Dec 2024
- Last updated
- 26 Oct 2026
- Results posted
- No
- Individual data sharing
- No: Details on Vertex data sharing criteria and process for requesting access can be found at: https://www.vrtx.com/our-science/clinical-trials-data-sharing/
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study to Determine the Prevalence and Clinical Characteristics Associated With PKD1 Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- ClinicalTrials.gov ID
- NCT06747572
- Acronym / sponsor ID
- VX24-KDO-901
- Keywords
- ADPKD
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 401 participants (actual)
- Lead sponsor
- Vertex Pharmaceuticals IncorporatedIndustry (pharma, biotech, devices)
- Study start
- 19 Dec 2024 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 24 Dec 2024 (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.
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Part A | – | –Eligible participants will complete a single visit to complete a blood sample collection for PKD1/2 genotyping. |
| Part B | – | –Participants who have completed all assessments in Part A and have a subset of variants in PKD1 will complete 1 year of follow-up. |
Who may qualify
- Ages
- 12 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Part A: Male and female participants aged 12 to 65 years old, inclusive, diagnosed with ADPKD who have not reached end stage kidney disease (ESKD). Part B: Male and female participants aged 12 to 65 years old, inclusive, who have completed Part A and who have genotyping results confirming an eligible non-truncating variant in PKD1 and who are at risk for rapidly progressive disease, based upon historical total kidney volume (TKV) or kidney length.
Key inclusion criteria (3 listed)
- Estimated glomerular filtration rate (eGFR) greater than or equal to (≥) 30 milliliter per minute (mL/min)/1.73 m^2
- Willing and able to comply with scheduled visits and other study procedures
- A pre-existing diagnosis of ADPKD as defined in the protocol
Key exclusion criteria (4 listed)
- History of kidney disease other than ADPKD that in the opinion of the investigator would independently impact the natural history of ADPKD
- History of solid organ or bone marrow transplantation or nephrectomy
- Ongoing renal replacement therapy or planning to start renal replacement therapy less than or equal to (≤)12 months from the Genotyping Visit in Part A
- Other protocol defined Inclusion/Exclusion criteria will apply.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Part A: Percentage of PKD1 Gene Variant Groups in the ADPKD Population
Time frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Weight of Participants Within Each PKD1 Gene Variant Group
Time frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Height of Participants Within Each PKD1 Gene Variant Group
Time frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Body Mass Index (BMI) of Participants Within Each PKD1 Gene Variant Group
Time frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Age of Participants at ADPKD Diagnosis Within Each PKD1 Gene Variant Group
Time frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- Individual participant dataSharing planned: No. Details on Vertex data sharing criteria and process for requesting access can be found at: https://www.vrtx.com/our-science/clinical-trials-data-sharing/
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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.
The record lists no contact. Use the official record to reach the sponsor.
45 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autosomal Dominant Polycystic Kidney Disease (ADPKD), run by Vertex Pharmaceuticals Incorporated at 45 sites in 9 countries.
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 3 inclusion and 4 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: under way, not looking for participants, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 45 sites in United States, United Kingdom, Belgium, Canada, France and 4 more countries. 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?
This study is still under way. Results are not available in the source record yet.
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?
Part A: Percentage of PKD1 Gene Variant Groups in the ADPKD Population (time frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)). The study lists 5 primary outcomes in all. 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 26 Oct 2026.