ADPKD Cohort Study

Study Overview
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Brief Summary
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The purpose of this study is to find out if radiology tests of the kidneys as opposed to glomerular filtration (GFR) tests (GFR test - a lab test that measures kidney function) follow progression of polycystic kidney disease (PKD) the best. PKD patients at risk for progression to renal failure (dialysis or transplantation) have been identified and include those who have been diagnosed with high blood pressure early, the presence of the PKD1 gene (the inherited abnormality responsible for the majority of PKD), men as opposed to women, those with episodes of visible blood or increased protein in their urine, and women who have experience more than three pregnancies. Individuals who are diagnosed with PKD in the first year of life or in utero (before birth) are also at high risk for progression to renal failure. This study will also facilitate understanding of human diseases at the cellular and molecular level. We will be identifying genetic factors that may influence the severity of polycystic kidney disease (PKD). You are being asked to provide a sample of blood for the purpose of DNA or other biochemical analyses.

Official Title
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The Autosomal Dominant Polycystic Kidney Disease (ADPKD) Cohort Study

Conditions
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Autosomal Dominant Polycystic Kidney Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Group 1 Hypertension diagnosed early in the course of the disease (less than 25 years for men; less than 30 years for women) ADPKD diagnosed in utero or in the first year of life The presence of proteinuria (between 180 mg and 1 gm/day) without evidence of a second renal disorder A history of more than 3 pregnancies and hypertension A history of gross hematuria A serum creatinine concentration less than 1.4 mg/dl ADPKD diagnosed in childhood with more than 10 cysts Group 2 Serum creatinine concentration >1.4 and Renal length greater than 15 cm and Age less than 60 years of age Severe pain or discomfort as assessed by the primary care physician related to ADPKD Exclusion Criteria: Subjects, who in the assessment of the principal investigator cannot provide reliable follow-up Subjects who cannot be exposed to iothalamate Subjects who cannot undergo MRI due to the presence of a pacemaker or surgical clip in the abdomen Subjects who are not anticipated to survive during the duration of the study (e.g. underlying malignancy) Subjects who cannot provide informed consent Women who are pregnant or who have undergone a pregnancy in the last 6 months or who are presently breastfeeding

Ages Eligible for Study
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Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Group 1<br>Group 1 will consist of 300 ADPKD individuals who are early in the course of their disease and demonstrate risk factors for progression to ESRD. | |
| Group 2<br>Group 2 will consist of ADPKD subjects who have progressed to a more advanced stage of their renal disease. There is no limit with regard to the number of subjects to be recruited into this group. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in GFR as compared to change in renal volume over time |  | Three years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Differences in the ability to determine change in renal volume over time between MRI and ultrasound |  | Three years |