ext Generation Sequencing and Induced Pluripotent Stem Cell Applications in Genetic and Inheritable Forms of Renal Disease

Not Applicable

Active, not recruiting

Conditions: Inherited Kidney Disease
Renal and Urogenital - Kidney disease
Human Genetics and Inherited Disorders - Other human genetics and inherited disorders

Registration Number: ACTRN12615000140550

Lead Sponsor: Genetic Health Queensland, RBWH

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Active, not recruiting

Sex: All

Target Recruitment: 236

Inclusion Criteria

Two groups of individuals will be recruited for this study:
-Candidates for participation in the protocol will be affected individuals whose family history and/or phenotype strongly suggests a genetic aetiology and in whom routine genetic testing is:
a) not clinically available
b) not feasible given the suspected disorder has high genetic heterogeneity, or
c) if specific testing for the likely disorder has already failed to arrive at a diagnosis.

-First-degree relatives of participating patients (father, mother, siblings, or sons and daughters of the patients).

Patients will be seen and assessed by a nephrologist and/or clinical geneticist in a Renal Genetics Clinic.

Exclusion Criteria

-Declination to participate in the study
-An insufficient number of direct relatives willing/able to participate in the study. In most cases inclusion in this study will require the participation of the patient and both parents. However, in some cases a combination of factors including the structure of the family pedigree, the suspected mode of inheritance, and information available regarding the specific disease may provide the required level of genetic information and therefore warrant inclusion in the study. This will be determined on a case-by-case basis by the Principal Investigators.

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of a novel genetic cause for inherited kidney disease utilising NGS (WES/WGS) of a patient's DNA sample, subsequently submitted for confirmation (Sanger Sequencing) in a clinically accredited laboratory[ 1year]

Secondary Outcome Measures

Name	Time	Method
Validation of a novel genetic cause for inherited kidney disease by either functional validation (fibroblast, iPSC, etc) and/or correlation with similar cases with the same disease and genetic variants[ 2yrs]