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Completed

NCT Number: NCT02322385

Clinical Implications of DNA Analysis on ADPKD

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.

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Key information

Conditions

Autosomal Dominant Polycystic Kidney Disease Abnormalities, Multiple Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Kidney Diseases Kidney Diseases, Cystic Male Urogenital Diseases Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Urogenital Diseases Urologic Diseases

Age range

20 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Department of Polycystic Kidney Research, Kyorin University School of Medicine, Mitaka, Tokyo, Japan

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • The unrelated patients with ADPKD.

Exclusion criteria

  • The patients whose clinical data are not compiled.

Treatment and study plan

Primary outcomes

  1. 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.

Secondary outcomes

  1. 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.

Other outcomes

  1. The relationship between mutational types and phenotypes;

    Time frame: One year.

    • The radiologic findings of intracranial aneurysm and cerebral arteries.

Sponsors and collaborators

Lead sponsor

Kyorin University

Other

Collaborators

  • Otsuka Pharmaceutical Co., Ltd.

Registry information

Official study title

Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease

Acronym: DNAAA

Important dates

Study start
2014
Primary completion
2016
Study completion
2016
First posted
Dec 23, 2014
Registry last updated
Mar 3, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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