Kansas PKD RTCC | Clinical Research Core | Early PKD Observational Cohort Study Adult and Childhood (EPOC)
Download this tab as PDF Contact: Alan Yu, Core Director
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 (189, as of 9/2024):
- ADPKD patients 116 (37 children <18yr, 79 adults)
- At-risk siblings 14
- Unaffected siblings 9
- Normal controls 50
Follow-up duration (as of 9/2024)
- ADPKD patients: up to 8.3 years (median 4.4 years)
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
PKD Genotype
Renal and Hepatic MRI (every 2 years): Total Kidney Volume (TKV)
Please note: There may be additional costs for the materials and shipping associated with your requests. You will be contacted directly by the provider regarding these costs.
Maryland PKD RTCC | Clinical and Translational Core | Adult ADPKD Cohort
Download this tab as PDF Contact: Stephen Seliger, Core Director
Core Resources — Clinical Phenotyping
ClinicalTrials.Gov Identifier NCT01873235
ADPKD Cohort: Longitudinal Cohort Study of adult ADPKD patients without ESRD and eGFR>15 ml/min/1.73m 2
Follow-up Duration: Up to 6 years
Biorepository:
- Urine
- Plasma
- Sera
- DNA
- N=298 participants enrolled
- Age: 45.1 (13.6) years
- 60% Female
- 13.4% African American
- 41.5% with eGFR<60 ml/min/1.73m 2
- Mayo Risk Class 1C, 1D, or 1E: 75.6%
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.
- Cardiovascular complications – valvular heart disease, aortic aneurysms
- CNS complications – including presence and size of intra-cranial aneurysms
- Non-ADPKD co-morbid conditions and medications
- Tolvaptan Use
- Incident End – stage Kidney Disease (and type of renal replacement therapy)
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, body mass index
Clinical Laboratory Results
- Electrolytes (estimated GFR from CKD-Epi equation)
- Lipid profile
- Liver function panel
- Complete Blood Count
- Urine protein
Renal and Hepatic MRI:
- Total Kidney Volume (TKV)
Cardiovascular measures (on subset of participants):
- Aortic Pulse wave velocity
- Left Ventricular Mass
- Left Ventricular Ejection fraction
- Left Ventricular and atrial dimensions
- Valvular dysfunction
Cognitive Function (Montreal Cognitive Assessment (MoCA) and Depressive symptoms (Beck Depression Inventory).
- Montreal Cognitive Assessment (MoCA)
- Beck Depression Inventory-II
Health-related Quality of Life:
- NIH PROMIS instruments
Please note: There may be additional costs for the materials and shipping associated with your requests. You will be contacted directly by the provider regarding these costs.
UAB-CHOP PKD RTCC | Clinical and Translational Core | ADPedKD-US Cohort | Pediatric ADPKD
Download this tab as PDF Contact: Lisa Guay-Woodford, Core Director
Core Resources — Clinical Phenotyping
UAB PKD RTCC
Clinical and Translational Core
ClinicalTrials.Gov Identifier NCT04338048
ADPedKD-US Cohort: Longitudinal cohort study of patients (< 18 years of age) with ADPKD. US node of ADPedKD international database. Study Sample (as of 09/09/2024):
- N=51 participants enrolled
- Age (at enrollment): 0-18 years
- Age (current): 3-23 years
- Gender composition: 50% Female 50% Male
- Race composition: White 66.67%, Black 11.90%, Hispanic 11.90%, Asian 4.76%, and Other 4.76%
Biorepository:
- Urine
- Plasma
- Serum
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
rine 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
Please note: There may be additional costs for the materials and shipping associated with your requests. You will be contacted directly by the provider regarding these costs.
UAB-CHOP PKD RTCC | Pediatric ADPKD | Biospecimen Core
Download this tab as PDF Contact: Biospecimen Core, Jasmine Jaber, Core Director
Core Resources: Human Biospecimens
Established PKD Repository: Collection of biospecimens from ADPKD patients with established disease that are linked to clinical data.
- Urine
- Plasma
- Serum
Please note: There may be additional costs for the materials and shipping associated with your requests. You will be contacted directly by the provider regarding these costs.
Contact: info@pkd-rrc.org
Data dictionary representing 501 harmonized PKD variables and accompanying data elements used for the multi-site registry derived from the three PKD-RRC sites. The data dictionary is formatted for, and ready for, import into REDCap, a secure web application for electronic data capture that is available for free and widely used by academic and other non-profit organizations worldwide. An accompanying guide provides metadata including more detailed description and explanation of each variable.
Request Clinical Data and/or Biospecimens Material Transfer Agreement/Data Usage Agreement
