Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease View Homepage


Ontology type: schema:MedicalStudy     


Clinical Trial Info

YEARS

2014-2016

ABSTRACT

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. More... »

URL

https://clinicaltrials.gov/show/NCT02322385

Related SciGraph Publications

  • 2018-04. A potentially crucial role of the PKD1 C-terminal tail in renal prognosis in CLINICAL AND EXPERIMENTAL NEPHROLOGY
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