Clinical Implications of DNA Analysis on ADPKD

Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02322385

Acronym

DNAAA

Enrollment

Registered

2014-12-23

Start date

2014-01-31

Completion date

2016-12-31

Last updated

2017-03-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Autosomal Dominant Polycystic Kidney Disease

Keywords

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

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.

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

20 Years to 80 Years

Healthy volunteers

Inclusion criteria

* The unrelated patients with ADPKD.

Exclusion criteria

* The patients whose clinical data are not compiled.

Design outcomes

Primary

Measure	Time frame	Description
The relationship between mutational types and phenotypes	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

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

Other

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

Countries

Japan

Outcome results