An article entitled “An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry” has appeared in the Orphanet Journal of Rare Diseases in which the aHUS alliance has revealed a list of priority research topics for aHUS . The full article is free to view and can be downloaded at this link here .
From Table 2 in the article ,the top 5 topics for research scored by several aHUS alliance affiliated countries are :
Some of these may be surprising to see.
The top priority topic of transplant, for example, may be not be high on the list of priorities for most aHUS patients who have benefited from effective treatment of an aHUS onset, unlike those aHUS patients in the past who, even if they survived, more often than not ended up on dialysis because of end stage renal disease.
aHUS patient organisation are acutely aware that the aHUS dialysis patients are the most frequently excluded group of patients from the scope of eculizumab by their health providers policies. Collectively aHUS patient organisations regard this as very important issue for helping get access to treatment for all.
A “white paper” written by the alliance with insights into the issues faced by aHUS dialysis patients has recently been uploaded to the Info Centre and can be read by clicking here.
The almost common experience of the long time it can take as well as the uncertainties of getting an aHUS Diagnosis has left its impact on those affected; and it is seen as something they would want to see done better for others yet to experience their encounter with aHUS.
The two diagnosis topics listed recognise that the speed of diagnosis is beneficial to the patient and, increasingly, to the cost effectiveness resulting from early treatment.
Another very popular topic in aHUS social media surrounds pregnancy as a potential trigger of the disease so it no surprise to see that it gets a high listing.
A growing topic of interest is for those who have been successfully treated, and achieve remission without further need for plasma or drug therapy; but who remain anxious about the disease returning. They would like early warning through monitoring themselves so that any such aHUS returning can be dealt with before any further damage is done.
Finally the subject of eculizumab treatment and its effectiveness is important to those receiving it. The impact of dose tapering and stopping fro0m a decision to make changes to something which has worked, needs backing up with evidence.
These are the topics prioritised by the alliance ,but the other 18 topics listed in Table 2 remain valid and important for research too ,
It will be the alliance’s job to monitor whether these knowledge gaps about aHUS are being filled and that aHUS patients are aware of them to use in their own personal patient engagement with their healthcare provider if they so chose.
The aHUS alliance will be continuing to work international research networks to make it happen,