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| ID | Type | Description | Link |
|---|---|---|---|
| NL88429.078.24 | Registry Identifier | Overview of Medical Research in the Netherlands (OMON) |
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The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| Part A: Percentage of PKD1 Gene Variant Groups in the ADPKD Population | 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 | 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 | 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 | 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 | Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day) |
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Key Inclusion Criteria:
Key Exclusion Criteria:
Other protocol defined Inclusion/Exclusion criteria will apply.
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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.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Alabama Kidney Research | Alabaster | Alabama | 35007 | United States | ||
| University of Alabama at Birmingham- Nephrology Research Clinic |
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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| Birmingham |
| Alabama |
| 35294 |
| United States |
| Kaiser Permanente - Los Angeles Medical Center | Los Angeles | California | 90027 | United States |
| UCLA Division of Nephrology | Los Angeles | California | 90095 | United States |
| Helen Diller Medical Center at Parnassus Heights | San Francisco | California | 94143 | United States |
| Nephrology & Hypertension Associates, PC | Middlebury | Connecticut | 06762 | United States |
| Yale Nephrology Clinical Research Clinic | New Haven | Connecticut | 06510 | United States |
| Nature Coast Clinical Research - Inverness | Inverness | Florida | 34452 | United States |
| Mayo Clinic - Jacksonville | Jacksonville | Florida | 32224 | United States |
| Emory School of Medicine - Renal Division | Atlanta | Georgia | 30308 | United States |
| Renal Associates, LLC | Columbus | Georgia | 31904 | United States |
| UChicago Medicine - Duchossois Center for Advanced Medicine - Nephrology | Chicago | Illinois | 60637 | United States |
| University of Iowa Health Care Medical Center- Nephrology | Iowa City | Iowa | 52242 | United States |
| University of Kansas Medical Center | Kansas City | Kansas | 66160 | United States |
| General Clinical Research Center, University of Maryland Baltimore | Baltimore | Maryland | 21201 | United States |
| Tufts Medical Center | Boston | Massachusetts | 02111 | United States |
| Beth Israel Deaconess Medical Center - Nephrology | Boston | Massachusetts | 02215 | United States |
| Quest Research Institute | Farmington Hills | Michigan | 48334 | United States |
| University of Minnesota -Health Clinical Research Unit | Minneapolis | Minnesota | 55455 | United States |
| Mayo Clinic - Rochester | Rochester | Minnesota | 55905 | United States |
| DaVita Clinical Research | Las Vegas | Nevada | 89107 | United States |
| Columbia University Medical Center | New York | New York | 10032 | United States |
| Geisinger Clinic | Danville | Pennsylvania | 17822 | United States |
| Perelman Center for Advanced Medicine - Nephrology | Philadelphia | Pennsylvania | 19104 | United States |
| Nephrology Clinical Trials Center | Nashville | Tennessee | 37232 | United States |
| UVM Medical Center - 1 South Prospect Street | Burlington | Vermont | 05401 | United States |
| Swedish Center for Comprehensive Care | Seattle | Washington | 98104 | United States |
| Universite Catholique de Louvain, Cliniques universitaires Saint-Luc (UCLouvain) | Brussels | Belgium |
| Universitaire Ziekenhuizen Leuven | Leuven | Belgium |
| St. Joseph's Healthcare - Hamilton | Hamilton | Canada |
| MUHC - Montreal Children's Hospital | Montreal | Canada |
| Hopital de la Cavale Blanche | Brest | France |
| Necker Hospital | Paris | France |
| Charité - Klinik für Nephrologie und Intensivmedizin der | Berlin | Germany |
| Universitaetsklinik Koeln Department II of Internal Medicine | Cologne | Germany |
| UMCG - Nephrology | Groningen | Netherlands |
| Erasmus Medisch Centrum - Nephrology | Rotterdam | Netherlands |
| FDI Clinical Research - San Juan | San Juan | Puerto Rico |
| Hospital Fundacion Jimenez Diaz | Madrid | Spain |
| Queen Elizabeth Hospital Birmingham | Birmingham | United Kingdom |
| King's College Hospital | London | United Kingdom |
| Royal Free NHS Trust | London | United Kingdom |
| St Georges University Hospitals NHS Foundation Trust | London | United Kingdom |
| Newcastle upon Tyne Hospitals NHS Foundation Trust - Freeman Hospital - Nephrology | Newcastle upon Tyne | United Kingdom |
| Northern General Hospital | Sheffield | United Kingdom |
| ID | Term |
|---|---|
| D016891 | Polycystic Kidney, Autosomal Dominant |
| ID | Term |
|---|---|
| D007690 | Polycystic Kidney Diseases |
| D052177 | Kidney Diseases, Cystic |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D000072661 | Ciliopathies |
| D030342 | Genetic Diseases, Inborn |
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