Providing Guidance in the Dark: Rare Renal Diseases and the Challenge to Improve the Quality of Evidence

Davide Bolignano; Evi V. Nagler; Wim Van Biesen; Carmine Zoccali


Nephrol Dial Transplant. 2014;29(9):1628-1632. 

In This Article

The Importance Of International Registries

In this scenario establishing large, international registries is of paramount importance. These registries may indeed help in the assessment of effectiveness and safety of treatments and even represent an important source for historical controls. The International registry of Hemolytic Uremic Syndrome (HUS) and Thrombotic Thrombocytopenic Purpura (TTP) is a successful example.[14,15] The registry has been established with the aim to study the genetic and biochemical abnormalities of HUS/TTP, collect clinical and genetic data of patients and their families, find the best therapeutic approach for patients and provide up-to-date information to physicians and families. The registry has been established in 1996 and until now 730 cases of HUS/TTP have been referred to the registry from about 180 European and extra-European centres. The International Registry for Hereditary Kidney Stone Diseases is an ongoing initiative started in July 2003[16] which collects medical information worldwide from over 1100 patients affected by Primary Hyperoxaluria (PH), Dent disease, Cystinuria and Adenine phosphoribosyltransferase (APRT) deficiency with the aim to increase knowledge about these rare disorders, provide evidence to establish patient care guidelines and create the basis for future clinical trials. Clinical and laboratory data from 203 subjects have been recorded so far. Other international registers on rare renal diseases are the UK Registry for Rare Kidney Diseases (RADAR)[17] and the Cure Cystinosis International Registry (CCIR).[18]