Trial record 21 of 100 for:    Polycystic Kidney Disease

Clinical Implications of DNA Analysis on ADPKD (DNAAA)

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2014 by Kyorin University
Sponsor:
Collaborator:
Otsuka Pharmaceutical Co., Ltd.
Information provided by (Responsible Party):
Eiji Higashihara, MD, Kyorin University
ClinicalTrials.gov Identifier:
NCT02322385
First received: January 24, 2014
Last updated: December 22, 2014
Last verified: December 2014
  Purpose

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.


Condition
Autosomal Dominant Polycystic Kidney Disease

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease

Resource links provided by NLM:


Further study details as provided by Kyorin University:

Primary Outcome Measures:
  • The relationship between mutational types and phenotypes [ Time Frame: Depends on the observational period at least more than one year. ] [ Designated as safety issue: No ]
    • 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 Outcome Measures:
  • Identify the efficacy of next generation sequencing method [ Time Frame: One year. ] [ Designated as safety issue: No ]
    • Compatibility of sequence results between two NGSs.
    • Compatibility of sequence results between NGS and Sanger's method.


Other Outcome Measures:
  • The relationship between mutational types and phenotypes; [ Time Frame: One year. ] [ Designated as safety issue: No ]
    • The radiologic findings of intracranial aneurysm and cerebral arteries.


Biospecimen Retention:   Samples With DNA

Blood


Estimated Enrollment: 80
Study Start Date: January 2014
Estimated Study Completion Date: May 2015
Estimated Primary Completion Date: April 2015 (Final data collection date for primary outcome measure)
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.

  Eligibility

Ages Eligible for Study:   20 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.

Criteria

Inclusion Criteria:

  • The unrelated patients with ADPKD.

Exclusion Criteria:

  • The patients whose clinical data are not compiled.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02322385

Contacts
Contact: Eiji Higashihara, MD +81-422-47-5511 ext 3565 ehigashi@ks.kyorin-u.ac.jp
Contact: Kikuo Nutahara, MD +81-422-47-5511 ext 5815 kinuta@ks.kyorin-u.ac.jp

Locations
Japan
Department of Polycystic Kidney Research, Kyorin University School of Medicine Enrolling by invitation
Mitaka, Tokyo, Japan, 181-8611
Department of Urology, Kyorin University Hospital Recruiting
Mitaka, Tokyo, Japan, 181-8611
Contact: Kikuo Nutahara, MD    +81-422-47-5511 ext 5815    kinuta@ks.kyorin-u.ac.jp   
Contact: Mitsuhiro Tanbo, MD    +81-422-47-5511 ext 7761    tanbodes@ks.kyorin-u.ac.jp   
Sponsors and Collaborators
Kyorin University
Otsuka Pharmaceutical Co., Ltd.
Investigators
Study Chair: Eiji Higashihara, MD Department of Polycystic Kidney Research, Kyorin University School of Medicine
  More Information

No publications provided

Responsible Party: Eiji Higashihara, MD, Professor of Department of Polycystic Kidney Research, Kyorin University School of Medicine., Kyorin University
ClinicalTrials.gov Identifier: NCT02322385     History of Changes
Other Study ID Numbers: Kyorin-PKD-1
Study First Received: January 24, 2014
Last Updated: December 22, 2014
Health Authority: Japan: Ministry of Health, Labor and Welfare

Keywords provided by Kyorin University:
Autosomal Dominant Polycystic Kidney Disease
PKD 1 gene
PKD 2 gene
Truncational mutation
Hypomorphic mutation

Additional relevant MeSH terms:
Kidney Diseases
Multicystic Dysplastic Kidney
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Congenital Abnormalities
Kidney Diseases, Cystic
Urogenital Abnormalities
Urologic Diseases

ClinicalTrials.gov processed this record on May 25, 2015