Clinical trial NCT06747572: Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease
Official title: A Study to Determine the Prevalence and Clinical Characteristics Associated With PKD1 Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Lead sponsor: Vertex Pharmaceuticals Incorporated
Sponsor class: INDUSTRY
First posted: 2024-12-24
Enrollment: 400
Sex: ALL
Minimum age (years): 12
Maximum age (years): 65
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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.

Brief 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.


Eligibility criteria: Key Inclusion Criteria:

* 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:

* 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.

Primary outcomes:
measure: Part A: Percentage of PKD1 Gene Variant Groups in the ADPKD Population
timeFrame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
measure: Part A: Weight of Participants Within Each PKD1 Gene Variant Group
timeFrame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
measure: Part A: Height of Participants Within Each PKD1 Gene Variant Group
timeFrame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
measure: Part A: Body Mass Index (BMI) of Participants Within Each PKD1 Gene Variant Group
timeFrame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
measure: Part A: Age of Participants at ADPKD Diagnosis Within Each PKD1 Gene Variant Group
timeFrame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Secondary outcomes:
Other outcomes:
Locations:
city: Alabaster
country: United States
facility: Alabama Kidney Research
state: Alabama
city: Los Angeles
country: United States
facility: Kaiser Permanente - Los Angeles Medical Center
state: California
city: Middlebury
country: United States
facility: DaVita Clinical Research
state: Connecticut
city: New Haven
country: United States
facility: Yale Nephrology Clinical Research Clinic
state: Connecticut
city: Inverness
country: United States
facility: Nature Coast Clinical Research - Inverness
state: Florida
city: Atlanta
country: United States
facility: Emory School of Medicine - Renal Division
state: Georgia
city: Columbus
country: United States
facility: Renal Associates, LLC
state: Georgia
city: Iowa City
country: United States
facility: University of Iowa Hospital & Clinics
state: Iowa
city: Kansas City
country: United States
facility: University of Kansas Medical Center
state: Kansas
city: Baltimore
country: United States
facility: General Clinical Research Center, University of Maryland Baltimore
state: Maryland
city: Boston
country: United States
facility: Tufts Medical Center
state: Massachusetts
city: Farmington Hills
country: United States
facility: Quest Research Institute
state: Michigan
city: Las Vegas
country: United States
facility: DaVita Clinical Research
state: Nevada
city: New York
country: United States
facility: Columbia University Medical Center
state: New York
city: Leuven
country: Belgium
facility: Universitaire Ziekenhuizen Leuven
city: Montreal
country: Canada
facility: McGill University Health Centre, Glen Site
city: Brest
country: France
facility: Hopital de la Cavale Blanche
city: Paris
country: France
facility: Necker Hospital
city: San Juan
country: Puerto Rico
facility: FDI Clinicial Research
city: London
country: United Kingdom
facility: King's College Hospital
city: London
country: United Kingdom
facility: Royal Free NHS Trust
city: London
country: United Kingdom
facility: St Georges University Hospitals NHS Foundation Trust
city: Sheffield
country: United Kingdom
facility: Sheffield Kidney Institute, Northern General Hospital
Study officials:
References: