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Clinical Implications of DNA Analysis on ADPKD (DNAAA)

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ClinicalTrials.gov Identifier: NCT02322385
Recruitment Status : Completed
First Posted : December 23, 2014
Last Update Posted : March 3, 2017
Sponsor:
Collaborator:
Otsuka Pharmaceutical Co., Ltd.
Information provided by (Responsible Party):
Eiji Higashihara, MD, Kyorin University

Brief 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.

Condition or disease
Autosomal Dominant Polycystic Kidney Disease

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.


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Study Type : Observational
Actual Enrollment : 80 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease
Study Start Date : January 2014
Actual Primary Completion Date : December 31, 2016
Actual Study Completion Date : December 31, 2016

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Kidney Diseases




Primary Outcome Measures :
  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 Outcome Measures :
  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 Outcome Measures:
  1. The relationship between mutational types and phenotypes; [ Time Frame: One year. ]
    • The radiologic findings of intracranial aneurysm and cerebral arteries.


Biospecimen Retention:   Samples With DNA
Blood


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Ages Eligible for Study:   20 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02322385


Locations
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Japan
Department of Polycystic Kidney Research, Kyorin University School of Medicine
Mitaka, Tokyo, Japan, 181-8611
Department of Urology, Kyorin University Hospital
Mitaka, Tokyo, Japan, 181-8611
Sponsors and Collaborators
Kyorin University
Otsuka Pharmaceutical Co., Ltd.
Investigators
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Study Chair: Eiji Higashihara, MD Department of Polycystic Kidney Research, Kyorin University School of Medicine

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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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
First Posted: December 23, 2014    Key Record Dates
Last Update Posted: March 3, 2017
Last Verified: February 2017

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

Additional relevant MeSH terms:
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Kidney Diseases
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Urologic Diseases
Kidney Diseases, Cystic
Abnormalities, Multiple
Congenital Abnormalities
Ciliopathies
Genetic Diseases, Inborn