NCT02322385

Clinical Implications of DNA Analysis on ADPKD

Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 80 (actual)
• Sponsor: Kyorin University · Academic / Other
• Sex: All
• Age: 20 Years – 80 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Autosomal Dominant Polycystic Kidney Disease

Timeline

• Start date: 2014-01-01
• Primary completion: 2016-12-31
• Completion: 2016-12-31
• First posted: 2014-12-23
• Last updated: 2017-03-03

Locations

2 sites across 1 country: Japan