Clinical Implications of DNA Analysis on ADPKD

Autosomal Dominant Polycystic Kidney Disease Clinical Trial

— DNAAA  

Official title:

Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02322385
• Other study ID #: Kyorin-PKD-1
• Status: Completed
• Phase: N/A
• First received: January 24, 2014
• Last updated: February 28, 2017
• Start date: January 2014
• Est. completion date: December 31, 2016

Study information

• Verified date: February 2017
• Source: Kyorin University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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 information / eligibility

• Status: Completed
• Enrollment: 80
• Est. completion date: December 31, 2016
• Est. primary completion date: December 31, 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: 20 Years to 80 Years

Eligibility

Inclusion Criteria:

• The unrelated patients with ADPKD.

Exclusion Criteria:

• The patients whose clinical data are not compiled.

Related Conditions & MeSH terms

• Autosomal Dominant Polycystic Kidney Disease
• Kidney Diseases
• Polycystic Kidney Diseases
• Polycystic Kidney, Autosomal Dominant

Locations

Country	Name	City	State
Japan	Department of Polycystic Kidney Research, Kyorin University School of Medicine	Mitaka	Tokyo
Japan	Department of Urology, Kyorin University Hospital	Mitaka	Tokyo

Sponsors (2)

Lead Sponsor	Collaborator
Kyorin University	Otsuka Pharmaceutical Co., Ltd.

Country where clinical trial is conducted

Japan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	The relationship between mutational types and phenotypes;	• The radiologic findings of intracranial aneurysm and cerebral arteries.	One year.
Primary	The relationship between mutational types and phenotypes	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.	Depends on the observational period at least more than one year.
Secondary	Identify the efficacy of next generation sequencing method	Compatibility of sequence results between two NGSs.; Compatibility of sequence results between NGS and Sanger's method.	One year.