Genomic Profiling of Liver and Kidney Disease in Children with ARPKD
Research type
Research Study
Full title
Genomic Profiling of Liver and Kidney Disease in Children with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
IRAS ID
335500
Contact name
Girish Gupte
Contact email
Sponsor organisation
Birmingham Womens and Childrens Hospital R&D
Duration of Study in the UK
1 years, 11 months, 30 days
Research summary
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare, genetic disease associated with renal cysts and liver defects that can severely impact children. The presentation of ARPKD can vary considerably and patients with paediatric PKD often present with renal disease and potentially kidney failure or progressive liver disease during childhood. A major issue with our current understanding is why disease presentation varies between individuals. We wish to uncover the underlying molecular differences between individuals with varying manifestations of ARPKD and decide if these differ between the children presenting with severe liver or kidney problems. For this purpose, we plan to use DNA already stored (or newly collected) to identify these differences, which could lead to the discovery of potential biomarkers and help us determine how quickly a patient will progress to end-stage kidney disease or end stage liver disease. We will do this by placing patient samples into different groups based on disease presentation. Following this, we will assess the per group molecular profiles using impartial, big data molecular techniques that allow us to look at the whole genome. This will allow us to identify differences in gene expression which will highlight why disease severity differs between these individuals. This approach can be used to help decide on the best time to deliver treatment and highlight new pathways, possibly leading to valuable new treatments in severe paediatric ARPKD.
REC name
South West - Central Bristol Research Ethics Committee
REC reference
24/SW/0073
Date of REC Opinion
7 Jun 2024
REC opinion
Favourable Opinion