The Renal Ciliopathies National Network

The renal ciliopathies represent a group of rare inherited kidney diseases affecting 10% of all patients with kidney failure, when kidneys stop working. Without treatments, like dialysis and kidney transplants, kidney failure can cause death.

Using modern genetics and advanced cell biology, we have gained important insights into this group of diseases. The most common form of renal ciliopathy is called autosomal dominant polycystic kidney disease (ADPKD). Autosomal dominant means it is inherited from one parent and is not related to sex.  Recently the first drugs have come to the clinic to slow down ADPKD but treatments that prevent or switch off the disease are still lacking.

Together, all patients with renal ciliopathies represent a large group, several thousands of people affected, although individually each renal ciliopathy is rare, sometimes ultrarare, and caused by errors, called mutations, in different genes. However, as a group, renal ciliopathy patients represent a significant challenge for our health care system, one which is currently not being addressed. This group also represents a significant opportunity for innovation and investment within the UK, which would allow us to become world leaders in the diagnosis and treatment of renal ciliopathies.

Through clinical studies of patients with renal ciliopathies, we can understand how mutations in different genes cause disease, model how they disrupt kidney function and identify ways to halt or reverse disease progression with the development of new and innovative treatments.

The objectives of CILIAREN – renal ciliopathies national network are to:

• Establish standard clinical, imaging and molecular genetic investigations for all renal ciliopathy patients across the UK;
• Improve understanding of underlying genetic mutations and how these changes influence disease progression; and
• Create groups of patients with a rare disease who are eligible to participate in trials for new personalised medicine treatments.

In doing so, we will create a national system of support for ciliopathy patients and their families through partnerships with patient groups and charities, better interfaced with clinical care teams and researchers, regardless of postal code. We believe that involving patients in these early steps of shaping how new ideas are transformed into new treatments for renal ciliopathies will lead to better designed trials with more meaningful outcomes for our patients.