Clinical Implications of DNA Analysis on ADPKD

NCT02322385 | Completed

• 1 other identifier: Kyorin-PKD-1
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 2

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.

Conditions

Autosomal Dominant Polycystic Kidney Disease

Keywords

Autosomal Dominant Polycystic Kidney Disease; PKD 1 gene; PKD 2 gene; Truncational mutation; Hypomorphic mutation

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Identify the efficacy of next generation sequencing method

  One year.

Other Outcomes (1)

• The relationship between mutational types and phenotypes;

  One year.

Eligibility Criteria

• Age: 20 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• The unrelated patients with ADPKD.

You may not qualify if:

• The patients whose clinical data are not compiled.

Sponsors & Collaborators

• Kyorin University: lead
• Otsuka Pharmaceutical Co., Ltd.: collaborator

Study Sites (2)

Department of Polycystic Kidney Research, Kyorin University School of Medicine

Mitaka, Tokyo, 181-8611, Japan

Location

Department of Urology, Kyorin University Hospital

Mitaka, Tokyo, 181-8611, Japan

Location

Related Publications (1)

• Higashihara E, Horie S, Kinoshita M, Harris PC, Okegawa T, Tanbo M, Hara H, Yamaguchi T, Shigemori K, Kawano H, Miyazaki I, Kaname S, Nutahara K. A potentially crucial role of the PKD1 C-terminal tail in renal prognosis. Clin Exp Nephrol. 2018 Apr;22(2):395-404. doi: 10.1007/s10157-017-1477-7. Epub 2017 Oct 5.

  PMID: 28983800 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Polycystic Kidney, Autosomal Dominant

Condition Hierarchy (Ancestors)

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

Study Officials

• Eiji Higashihara, MD

  Department of Polycystic Kidney Research, Kyorin University School of Medicine

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Department of Polycystic Kidney Research, Kyorin University School of Medicine.

Study Record Dates

• First Submitted: January 24, 2014
• First Posted: December 23, 2014
• Study Start: January 1, 2014
• Primary Completion: December 31, 2016
• Study Completion: December 31, 2016
• Last Updated: March 3, 2017

Record last verified: 2017-02

Locations

JP (2)