Early PKD Observational Cohort Study
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 250
- Locations
- 6
- Primary Endpoint
- Collect blood and urine samples from affected and unaffected cohorts for basic and translational research
Study Overview
Brief Summary
This observational study will collect blood and urine and clinical information from individuals with early-stages of polycystic kidney disease (PKD), their unaffected siblings and normal volunteers to create a biobank, also called a biorepository. The long-term goal is to develop new knowledge on biological markers or biomarkers that indicate changes in the disease progression. An understanding of biomarkers for early renal cyst growth will benefit PKD patients as new therapies are being developed and tested.
Detailed Description
In polycystic kidney disease (PKD), renal cysts form in utero and progressively enlarge due to aberrant proliferation of the cyst-lining cells and accumulation of fluid within the expanding cyst cavity. Over decades of unrelenting cyst growth, renal function declines due to the loss of functional tissue, eventually leading to kidney failure and the need for renal replacement therapy, such as dialysis or kidney transplantation.
Effective therapies for the treatment of PKD will need to be delivered as early as possible, before a measurable decline in kidney function, to preserve functional tissue. Currently, it is difficult to make an accurate prognosis of the progression of early-stage PKD since the growth of microscopic cysts is difficult to detect by standard imaging modalities and changes in total kidney volume measured within a reasonable time period are too small to be informative. Even though early cysts may not cause detectable changes in total kidney volume, their progressive enlargement damages the surrounding tissue and is a prelude to chronic kidney disease.
Current blood and urine tests provide important information on the decline of kidney function; however, these tests are not useful for monitoring early events of PKD such as initial cyst growth and damage to neighboring tissue. Clearly, novel biomarkers of early cystic disease need to be discovered to develop appropriate clinical tests to monitor the progression of early stage PKD. These tests will be important to identify patients at risk of rapid progression and of need of therapeutic intervention and to monitor the effectiveness of the therapeutic drug. The PKD Biomarkers Repository will allow approved researchers to obtain blood and urine samples for biomarker discovery and development of appropriate biomarker assays for prognosis of early PKD.
This observational study is currently recruiting for three groups: 1) individuals diagnosed with relatively early PKD as defined by total kidney volume and estimated GFR, 2) unaffected or undiagnosed family members, preferably siblings, 3) normal volunteers with no family history of renal disease.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 4 Years to 35 Years (Child, Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •Inclusion for early stage autosomal dominant polycystic kidney disease (ADPKD):
- •Family history of PKD
- •All races and ethnic groups
- •Glomerular filtration rate (GFR) >80 ml/min per 1.73 m2
- •Inclusion for Healthy Volunteers:
- •Male or female with no family history of kidney disease
- •All races and ethnic groups
- •Normal GFR
Exclusion Criteria
- •Non-insulin or insulin-dependent diabetes mellitus
- •Systemic illness (i.e.systemic lupus erythematosus, vasculitis)
- •Unable to provide written informed consent
- •Unavailable for magnetic resonance imaging (MRI) and blood/urine collection
Arms & Interventions
Individuals diagnosed with PKD
Individuals that have been diagnosed and meet the study's definition of early stage PKD.
Individuals with a family history of PKD
Unaffected/ undiagnosed family members, preferably siblings, of participants with PKD
Normal individuals for the comparison
Normal volunteers with no family history of PKD or other kidney diseases.
Outcomes
Primary Outcomes
Collect blood and urine samples from affected and unaffected cohorts for basic and translational research
Time Frame: 10 years
The study will establish a repository of blood and urine from individuals with early stage PKD, unaffected/undiagnosed family members and normal volunteers.
Secondary Outcomes
No secondary outcomes reported