Autosomal Dominant Polycystic Kidney Disease Autosomal Dominant Polycystic Kidney Disease
Conditions
Interventions
None listed
Sponsors
Vertex Pharmaceuticals
Eligibility
Age
12 Years to 64 Years
Inclusion criteria
Inclusion criteria: Adult: Participant (or their legally appointed and authorized representative) will sign and date an informed consent form (ICF), either in-person or remotely, as applicable by local law. 2. Willing and able to comply with scheduled visits and other study procedures. 3. Participants (male and female) between the ages of 18 and 65 years, inclusive. 4. Estimated glomerular filtration rate (eGFR) =30 mL/min/1.73 m2 based on the Modified Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) Creatinine Equation (2021)10 without the race adjustment. eGFR can be determined using the most recent serum creatinine value. 5. A pre-existing diagnosis of ADPKD Pediatric Participants: 1. Participant and their legally appointed and authorized representative(s) will sign and date an ICF, and, when appropriate, an assent form, either in person or remotely, as applicable by local law. 2. Willing and able to comply with scheduled visits and other study procedures. 3. Participants (male and female) between the ages of 12 and 17 years, inclusive. 4. eGFR =30 mL/min/1.73 m2 based on the Chronic Kidney Disease in Children under 25 (CKiDU25) GFR estimating equation.12 eGFR can be determined using either the most recent historical serum creatinine value. 5. A pre-existing diagnosis of ADPKD defined as follows: i. Evidence of polycystic kidney disease in 1 or both biological parents OR compatible genetic diagnosis
Exclusion criteria
Exclusion criteria: Participant, or close relative of the participant, is the investigator or a sub-investigator, research assistant, study coordinator, or other staff directly involved with the conduct of the study at that site. 2. History of kidney disease other than ADPKD that in the opinion of the investigator would independently impact the natural history of ADPKD. 3. History of solid organ or bone marrow transplantation or nephrectomy. 4. Ongoing renal replacement therapy or planning to start renal replacement therapy< 12 months from the Genotyping Visit in Part A. 5. Documented historical genotype result that in the opinion of the investigator demonstrates at least 1 truncating variant in PKD1
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| • Percentage of PKD1gene variant groups in the ADPKD population • Distribution of demographics and clinical characteristics of individuals within each PKD1 gene variant group | — |
Secondary
| Measure | Time frame |
|---|---|
| • Percentage of PKD2 gene variant groups in the ADPKD population • Distribution of demographics and clinical characteristics of individuals within each PKD2 gene variant group. Clinical characteristics over time in participants with a subset of non-truncating variants in PKD1 (Part B) • Percentage of participants with a subset of non-truncating variants in PKD1 | — |
Countries
Belgium, Canada, France, Germany, Italy, Netherlands, Spain, United Kingdom, United States
Contacts
Public ContactMS Madhi Salih
Erasmus MC, Universitair Medisch Centrum Rotterdam
Outcome results
None listed