Clinical Implications of DNA Analysis on ADPKD (DNAAA)

February 28, 2017 updated by: Eiji Higashihara, MD, Kyorin University

Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

80

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Japan
    • Tokyo
      • Mitaka, Tokyo, Japan, 181-8611
        • Department of Polycystic Kidney Research, Kyorin University School of Medicine
      • Mitaka, Tokyo, Japan, 181-8611
        • Department of Urology, Kyorin University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

20 years to 80 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

The patients with ADPKD visiting Kyorin university hospital over two years. The patients whose clinical data including total kidney volume (TKV), eGFR, QOL data and other relevant clinical data are available will be enrolled.

Description

Inclusion Criteria:

  • The unrelated patients with ADPKD.

Exclusion Criteria:

  • The patients whose clinical data are not compiled.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The relationship between mutational types and phenotypes
Time Frame: 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.
Depends on the observational period at least more than one year.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identify the efficacy of next generation sequencing method
Time Frame: One year.
  • Compatibility of sequence results between two NGSs.
  • Compatibility of sequence results between NGS and Sanger's method.
One year.

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
The relationship between mutational types and phenotypes;
Time Frame: One year.
• The radiologic findings of intracranial aneurysm and cerebral arteries.
One year.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Kyorin University

Collaborators

Otsuka Pharmaceutical Co., Ltd.

Investigators

  • Study Chair: Eiji Higashihara, MD, Department of Polycystic Kidney Research, Kyorin University School of Medicine

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2014

Primary Completion (Actual)

December 31, 2016

Study Completion (Actual)

December 31, 2016

Study Registration Dates

First Submitted

January 24, 2014

First Submitted That Met QC Criteria

December 22, 2014

First Posted (Estimate)

December 23, 2014

Study Record Updates

Last Update Posted (Actual)

March 3, 2017

Last Update Submitted That Met QC Criteria

February 28, 2017

Last Verified

February 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Kyorin-PKD-1

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Autosomal Dominant Polycystic Kidney Disease

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Macedonia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe