Defining disease progression in ADPKD
Research type
Research Study
Full title
A study using imaging, clinical and biochemical parameters to define and improve understanding of disease progression in Autosomal dominant polycystic kidney disease (ADPKD)
IRAS ID
173284
Contact name
Roslyn Simms
Contact email
Sponsor organisation
School of Medicine and Biomedical Sciences
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited kidney disease, with a worldwide prevalence of 1:400 to 1:1000. ADPKD is characterised by slowly progressive cyst development and growth in both kidneys and is associated with high blood pressure, chronic pain, haematuria, urinary tract infections and ultimately kidney failure which occurs in 50% by the sixth decade. The decline in kidney function which signifies disease progression is currently detected on blood tests and occurs late in the course of the disease. There is a need for earlier identification of patients at highest risk of disease progression to improve their management.
Mutations in two genes (PKD1 and 2) cause ADPKD, although mutations in PKD1 are associated with earlier onset and more severe disease. Genetic testing is currently not part of standard clinical care because of the cost and complexities of analyses. Furthermore the rate of disease progression varies even within families with the same genetic change. Research studies in America have identified that measuring kidney volume on detailed abdominal imaging (magnetic resonance, MRI) predicts a future decline in kidney function, prior to the decline in blood tests.
The purpose of this study is to measure kidney volume and use novel MRI techniques to identify changes with may occur in patients with “early” ADPKD, defined by preserved kidney function. Clinical parameters will be recorded including data associated with an increased risk of disease progression (blood pressure, history of haematuria, family history of kidney failure). Blood tests to measure kidney function and other measures as part of standard clinical care will be performed. Blood and urine samples will be collected and stored for future genetic or biomarker testing. Since this study focuses on disease progression, review of previous and future blood tests, imaging investigations and medical notes will be performed.
REC name
Yorkshire & The Humber - Sheffield Research Ethics Committee
REC reference
15/YH/0227
Date of REC Opinion
18 Jun 2015
REC opinion
Further Information Favourable Opinion