Clinical Implications of DNA Analysis on ADPKD
- Conditions
- Autosomal Dominant Polycystic Kidney Disease
- Registration Number
- NCT02322385
- Lead Sponsor
- Kyorin University
- Brief Summary
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease. We plan DNA analysis using the next generation sequencer (NGS) and examine the relationship between mutational types and clinical phenotypes. The accuracy of DNA analysis with NGS is tested by Sanger's method. The kidney and life survival curves will be compared between PKD1, PKD2 and non-ADPKD family members.
- Detailed Description
80 unrelated patients with ADPKD attending to the Kyorin University Hospital whose clinical data are compiled. DNA analysis is performed at Otsuka Pharmaceutical Laboratory.
Clinical data include total kidney volume (TKV), TKV slope, eGFR, eGFR slope and other clinically relevant data.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 80
- The unrelated patients with ADPKD.
- The patients whose clinical data are not compiled.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The relationship between mutational types and phenotypes Depends on the observational period at least more than one year. * Total Kidney Volume (TKV) measured by MRI and its slope.
* Total Liver Volume (TLV) measured by MRI and its slope.
* GFR estimated by plasma creatinine and cystatin C (eGFR).
* Other clinical data, such as QOL scores and ADPKD-related symptoms.
- Secondary Outcome Measures
Name Time Method Identify the efficacy of next generation sequencing method One year. * Compatibility of sequence results between two NGSs.
* Compatibility of sequence results between NGS and Sanger's method.
Trial Locations
- Locations (2)
Department of Urology, Kyorin University Hospital
🇯🇵Mitaka, Tokyo, Japan
Department of Polycystic Kidney Research, Kyorin University School of Medicine
🇯🇵Mitaka, Tokyo, Japan