Imaging Assessments of ARPKD Kidney Disease Progression
The Cleveland Clinic
Summary
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder for which there are currently no disease specific treatments. Clinical trials have been limited by the absence of robust measures of disease progression. The overall goal of this 5 year NIH-funded prospective, observational multicenter study conducted at CC (primary site) and Children's Hospital of Philadelphia (CHOP) (collaborating site) is establish a set of rapid, quantitative, and reproducible novel kidney MRI measures applicable to standard clinical MRI scanners, which could serve as potential biomarkers to measure response to therapy in patients across the disease spectrum and all ages. The investigators will recruit a total of 45 ARPKD patients and 15 healthy controls at the the two sites . All subjects will be \> or = 6yrs old with no contraindications to undergoing MRI (non contrast). ARPKD subjects will be recruited into one of 3 cohorts based on their estimated glomerular filtration rate (eGFR): early CKD (eGFR\> or =90ml/min/1.73m2), mild CKD (60-89ml/min/1.73m2) and moderate CKD (30-59ml/min/1.73m2). For ARPKD subjects, participation will last 3 years and consist of a baseline and 3 subsequent annual visits. Healthy controls will only have 1 study visit. Study visits for all participants will include collection of clinical and demographic data, clinical blood and urine tests (E.g. serum creatinine) and MRI imaging. ARPKD (but not healthy subjects) will also undergo a measured GFR test (iohexol clearance) to accurately assess their kidney function.
Description
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder that affects approximately 1/20,000 children and shares common cellular pathophysiology with other cystic kidney diseases, including Autosomal Dominant PKD (ADPKD). The genetics, pathology and clinical features of ARPKD, however, are distinct from ADPKD. In ARPKD, diffuse fusiform dilatations of the collecting tubules ("microcysts") predominate rather than the macrocysts seen in ADPKD. ARPKD kidneys may be very large at presentation, but, unlike ADPKD, actually stabilize in size as normal parenchyma…
Eligibility
- Age range
- 6+ years
- Sex
- All
- Healthy volunteers
- Yes
Inclusion criteria: ALL SUBJECTS * Ages \>6 years old * Able to lay still for 30 minutes in an MRI scanner ARPKD Patients * Clinical and/or genetic diagnosis of ARPKD * eGFR (creatinine based) \>30ml/min/1.732 performed within the last year Healthy Controls * Otherwise healthy with no known structural or functional kidney disease * No history of hypertension or documented high blood pressure within the last year Exclusion criteria: ALL SUBJECTS * Contraindications to MRI (e.g. metal implants) * Parental/patient refusal to sign an informed consent/ assent form ARPKD Patients * Prior kidney…
Locations (2)
- Cleveland ClinicCleveland, Ohio
- Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania