It is a year since an Orphanet Journal of Rare Disease article was published about a patients aHUS research agenda and the aHUS registry . The agenda was the result of the work of the affiliated patient organisations of the aHUS alliance, which met in London in 2015.
Since then over 80 aHUS patients contributed to the Rare Diseased Day 2017 video, in which they suggested research topics which were important to them.
Add to those, the topics suggested by over 90 of the 233 respondents to the 2016 aHUS Global Poll, and a total of nearly 200 views have been expressed by the aHUS patient community about what should be on an aHUS Patients Research Agenda.
OK this still only represents the views of a small fraction of the 15000 or more aHUS patients surviving in the world today, some of whom chose not to participate; but most of whom would not know that anyone was gathering such information to support an informed dialogue with aHUS researchers. However an Agenda now exists, and it is for them too.
Or at least an Interim Agenda exists as more work is being done by the alliance to refine a list which condenses and encapsulates the topics from the three sources.
This is the current “interim aHUS Patient Research Agenda”
- Is there a diagnosis sweet spot which can be found before a developing thrombotic microangiopathy turns into a catastrophic episode of aHUS?
- Is there an optimal way in which a complement inhibitor can be delivered to suit an individual’s need?
- Can a clinically effective therapy be developed that is affordable for all aHUS patients?
- Can a complement inhibitor be stopped safely when not needed by some aHUS patients and what makes them different?
- Are there long-term studies of outcomes of those in remission whether treated by a complement inhibitor or not?
- Is there a significant difference in outcome between having a complement inhibitor before or after a kidney transplant?
- Can the side effects of treatment using a complement inhibitor be distinguished from those temporary and permanent ongoing ailments which follow initial onset?
- Does the anxiety and self-esteem of aHUS patients vary significantly between treatment types and what can be done reduce and boost them respectively?
- How does living with aHUS impact on education and work?
- Do aHUS families have all the correct information to make informed family planning decisions?
- When it comes to genetic testing of aHUS family members what is best – to know or not to know -and what can be done with the knowledge?
- How many aHUS patients are there in my local area, my country and the world and how do they differ?
- Are the predisposing genetic and triggering factors of aHUS fully catalogued and understood and will it help to know how variable are the risks of these between individuals?
- Is it more cost effective, as well as clinically effective, for the management of an aHUS patient’s treatment to undertake genetic testing?
- Will there be a cure eventually?
Although numbered, the list is not in any priority order.
The list is shorter than the one in the Orphanet Journal article as the opportunity has been taken to merge like topics into an overarching generic topic; yet there are topics which are additional to the Orphanet list.
The 2016 Global Poll respondents and the Rare Diseases Day participants emphasised treatment issues such as affordable access to a complement inhibitor, how it could be delivered to suit individual needs, what the side effects were, whether it was safe to with draw from treatment and what alternatives to eculizumab there may be.
All these reflect a maturing experience of a treatment for our rare disease, albeit that many are still at the “cannot access” treatment stage. Also, the questions will apply to alternatives to eculizumab so the more generic term “complement inhibitor” is applied rather that a single proprietary brand.
The diagnosis question has been turned around from an emphasis on the post catastrophic timeline to a more challenging approach of whether a catastrophic episode can be pre-empted. But they are not mutually exclusive.
The list ends with the ultimate challenge of whether there can ever be a cure.
So there it is, a Research Agenda by patients for patients about what matters to patients.
It will develop further until a final agreed Agenda is created.
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This Agenda, designed to guide aHUS researchers, may well reflect or coincide with an “unseen ,unpublished and virtual agenda” which is the composite of all the partnering,as well as disparate, aHUS clinical research groups around the world.
Whatever that may be, those contemplating an aHUS Research investigation also have something to hang their research topic hat on ; to cite and demonstrate that what they are doing is patient-centric.
*if you have not read the OJRD article click link to view )
