Joint Clinical Database
The Joint Clinical Database combines the the following resources:
Kansas Early PKD Observational Cohort Study Adult and Childhood (EPOC)
Adult ADPKD Cohort
UAB Pediatric ADPKD
Kansas PKD RTCC | Clinical Research Core | Early PKD Observational Cohort Study Adult and Childhood (EPOC)
Contact: Alan Yu, Core Director; info@pkd-rrc.org
Core Resources — Clinical Phenotyping
Early PKD Observational Cohort Study (EPOC)
The goal of EPOC is to build a repository of biosamples collected from ADPKD patients during the earliest stages of the disease, that are linked to a longitudinal follow-up database with serial kidney imaging studies, and clinical outcomes. The major inclusion criteria are: age 4-35 years and eGFR > 80 mL/min/1.73 m2. Participants are recruited from 3 sites: (1) University of Kansas Medical Center (2) University of Chicago (to enrich the cohort for racial minorities), and (3) Children’s Mercy Hospital, Kansas City (to recruit younger children with ADPKD and their siblings).
Current participant census:
• Adult ADPKD 52
• Childhood ADPKD 22
• At-risk siblings 15
• Unaffected siblings 8
• Normal controls 49
Biorepository:
• Urine
• Urinary exosomes
• Plasma
• Sera
• DNA
Clinical Phenotyping
Clinical history:
• Age of diagnosis
• History of renal and cyst complications: pain, hemorrhage, infection, rupture, stones, hematuria, subarachnoid hemorrhage
• Exposures – including caffeine, tobacco, alcohol and cannabanoids
• Non-ADPKD co-morbid conditions
• Reproductive history
• Concomitant medications, including tolvaptan use
Family History – Including age of ESRD and death of affected family members
Physical Exam:
• Resting blood pressure, heart rate and temperature
• Height, weight
Clinical Laboratory Results
• Electrolytes (estimated GFR from CKD-Epi equation)
• Urine protein/creatinine ratio
Renal and Hepatic MRI: Total Kidney Volume (TKV)
Maryland PKD RTCC | Clinical and Translational Core | Adult ADPKD Cohort
ClinicalTrials.Gov Identifier NCT01873235
Contact: Stephen Seliger, Core Director; info@pkd-rrc.org
Core Resources — Clinical Phenotyping
ADPKD Cohort: Longitudinal Cohort Study of adult ADPKD patients without ESRD and eGFR>15 ml/min/1.73m 2
Study Sample (as of 12/2022):
• N=249 participants enrolled
• Age: 45.3 (13.3) years
• 62% Female
• 12% African American
• estimated GFR: 72.5 (33.4) ml/min/1.73m 2
• 43.3% with eGFR<60 ml/min/1.73m 2
• Mayo Risk Class 1C, 1D, or 1E: 75.5%
Clinical Phenotyping
Clinical history:
• Age of diagnosis and initial presenting symptoms (e.g., pain, hematuria)
• History of renal and cyst complications: pain, hemorrhage, infection, rupture, stones, hematuria, and nocturia.
• Extra-renal cysts – hepatic, pancreatic, other
• GI complications – diverticulae, herniae (including type and surgical correction)
• Cardiovascular complications – valvular heart disease, aortic aneurysms
• CNS complications – including presence and size of intra-cranial aneurysms
• Exposures – including caffeine, tobacco, iodinated contrast, hormonal therapies and oral contraception, environmental toxins
• Non-ADPKD co-morbid conditions and medications
Family History
– Including age of ESRD of affected family members, and history of extra-renal complications including hepatic disease and intra-cranial aneurysms.
• Physical Exam
• Resting blood pressure and heart rate
• Height, weight
Clinical Laboratory Results
• Electrolytes (estimated GFR from CKD-Epi equation)
• Lipid profile,
• Liver function panel,
• Urine protein
Renal and Hepatic MRI:
• Total Kidney Volume (TKV) and total liver volume (TLV)
Vascular Function:
• Aortic Pulse wave velocity
Echocardiography:
• Left Ventricular Mass
• Left Ventricular Ejection fraction
• Left ventricular and atrial dimensions
• Valvular dysfunction
• Pericardial effusions
Cognitive Function
(Montreal Cognitive Assessment (MoCA) and Depressive symptoms (Beck Depression Inventory).
• Health-related Quality of Life
• (NIH PROMIS instruments)
UAB PKD RTCC | Clinical and Translational Core | ADPedKD-US Cohort | Pediatric ADPKD
UAB PKD RTCC
Clinical and Translational Core
ClinicalTrials.Gov Identifier NCT04338048
Contact: Lisa Guay-Woodford, Core Director; info@pkd-rrc.org
Core Resources — Clinical Phenotyping
ADPedKD-US Cohort: Longitudinal cohort study of patients (< 18 years of age) with ADPKD. US node of ADPedKD international database.
Study Sample (as of 3/31/2021):
• N=20 participants enrolled
• Age (at enrollment): 3-18 years
• 59% Female
• 0.06% Black
Biorepository: none
Clinical Phenotyping
1. Clinical history:
• Age of diagnosis
• Age at death, cause
• Prenatal history, including gestational age at diagnosis, oligo-/an-hydramnios
• Neonatal history, including delivery, Apgar scores, respiratory support, complications
• History of hypertension, growth delay, urinary tract infections
• Renal replacement therapy
• Dialysis
• Transplantation
• Nutritional support
• Medications, including tolvaptan
2. Family History – including consanguinity; age of ESKD of affected family members; history of extra-renal complications, e.g. intra-cranial aneurysms and liver cystic disease.
3. Physical Exam:
• Blood pressure
• Height / weight
• Tanner stage
4. Clinical Laboratory Results
• Electrolytes and cystatin-C (estimated GFR from CKiD equation and/or Bedside Schwartz formula)
LFTs, including GGT
• Cbc; CRP
• Serum lipid profile
• Urine protein/creatinine ratio; urine calcium to creatinine ratio
5. Genetic testing
6. Imaging
• Ultrasound – kidney / liver
• MR — kidney / liver / brain
• MR elastography
7. Echocardiography:
• Left Ventricular Mass
• Left Ventricular Ejection fraction
8. Histopathology
• Kidney
• Liver
