Blog entry by Meguid El Nahas
"Providing guidance in the dark: rare renal diseases and the challenge to improve the quality of evidence." Bolignano and colleagues address the vexed issue of Rare and Orphan Disease and difficulties to obtain good and meaningful data either thought observational studies or through clinical intervention trials due to the small number of those affected. Small sample studies that are underpowered can lead to difficulties in statistical evaluation of the results and interpretation.
They suggest a number of approaches including:
Cross-over trials, performance of repeated measurements and analysis of covariance instead of a single comparison between treatment groups.
They also put considerable emphasis on the importance of registries and networks facilitating data collection, thus generating larger patients group more amenable to observational and cohort studies as well as randomized clinical trials.
This is a point previously elegantly made by Professor N Soliman in a similar review published a few years ago where she highlighted the importance of activism in this area of healthcare through alliance between patients groups such as the one she founded in Egypt, EGORD, and healthcare providers.
This, in turn, addressed the more urgent issue of drug provisions for Orphan and Rare Kidney Disease (ORKD) as treatment of a single patient with ORKD can cost anything between $100,000-400,000/per year!. With the ongoing economic downturn Western and high economies are finding such cost increasingly unaffordable. In emerging countries, the price of orphan therapies was never affordable. This is another reason why networks and lobbying as well as activism on behalf of patients suffering from ORKD take a more emphasis by putting pressure on the Pharmaceutical industry to address their cost issues. There is little doubt that the Pharma Industry needs a much more responsible approach to ORKD. It is up to healthcare professionals along with patients groups to keep the pressure up not only to improve research facilities but also to generate affordable therapies for these rare but often devastating diseases.
The Global Kidney Academy (ORKD initiative launched in January 2013 has one more month to run. It had little impact beyond raising awareness and education of these conditions. But perhaps as the Bolignano and Soliman reviews did, education is the first step to awareness which in turn is the first step to stimulating and facilitating research initiatives but also lobbying on behalf of ORKD sufferers.