The aHUS alliance has a long association with the Global aHUS Registry and has a place on its Scientific Advisory Board but there are other patient registries around the world which have been set up to help aHUS patients.
ERKNet, the rare renal disease arm of the EU’s European Reference Networks or ERNs, has set up a Registry for renal patients including those affected by TMAs- thrombotic microangiopathies. ERKNet follows the traditional scope of TMAs related renal diseases by just including STEC- HUS , TTP and aHUS. Secondary aHUS or TMAs diseases come under a category called glomuleropathies.
Whilst all TMAs are rare, those chosen by ERKNet are very rare , with aHUS patients being the an ultra small proportion of them all.
At the time of writing (27/6/19)the ERKNet patient Registry has 1388 patients enrolled of which 1324 are fully active and followed. There has been a surge of enrollment in the past twelve months ( over 80 patients have been added in the past week!). The majority of those enrolled are children (1033/1388) of whom 194/1033 are known to have had transplants. The others are at varying stages of chronic kidney disease including on dialysis. There are 355 adult patients.
Apart from TMA there are five other groups glomerulopathies, tuberulopathies, metabolic nrphropathies, CAKUT ( Congenital anomalies of the kidneys and urinary tract ) and cilliopathies, AD structural disorders. Of these glomerulopathies has the largest enrolled cohort numbers of 564/1388. TMA Group has 99/1388 patients of which 9 are adults. It is not known how many of the TMA patients have aHUS.
The current analysis of its enrollment table can be seem clicking here.
The information held about enrolled patients , all of whom have consented, will be used to fulfill the objectives of the Registry .
Firstly “to inform how many patients with individual rare renal diseases are treated across the Network and where they are located. Clinical, genetic and histopathological diagnoses are recorded as appropriate. This will allow it to identify and contact patients with a given disorder rapidly whenever novel therapeutic opportunities arise”
and then “to comply with the Network’s mission to provide excellent treatment quality to all patients. Selected disease- or treatment-specific quality and performance indicators are monitored at the patient level. This will permit the participating European Reference Centers to review their diagnostic and therapeutic performance as well as patient outcomes relative to those achieved in the Network as a whole.
So the unusual advantage to patients being in this Registry is that its address database allows direct communication to patients to make them aware of new treatments for their specific renal disease. A real benefit for those aHUS patients included , compared with those who are not.
Performance measures will be also be set up to assess the quality of each of the expert centres and compare them to the overall performance of the expert centres in the network. A novel approach to healthcare evaluation and a driver for the attainment of excellence.
But so far who are these fortunate aHUS patients. We know they may be among the 99 patients diagnosed within a small selection of TMA diseases. It Is possible that all or none of them may be aHUS patients.
We also know they would be from expert centres which have enrolled patients to the Registry. At the time of writing the following centres have enrolled patients into this Registry.
Barcelona, Hospital Universitari Vall d’Hebron
Bergamo, Azienda Ospedaliera Papa Giovanni XXIII
Essen, University Children`s Hospital
Gdansk, University Clinical Centre
Genova, Istituto Giannina Gaslini
Hamburg, UKE University Hospital
Heidelberg, University Hospital
London Great Ormond Street Hospital
Milano, Fondazione IRRCS Ca’ Granda Ospedale Maggiore Policlinico
Munster University Hospital
Naples UO Nephrology and Dialysis – Università della Campania
Newcastle Royal Victoria Infirmary
Padova, Azienda Ospedaliera di
Paris, Necker-Enfants Malades University Hospital
Prague, University Hospital
Rome, Gemelli Hospital
Rome, Bambino Gesù Children’s Hospital
Torino, San Giovanni Bosco Hospital and University of Torino
Vilnius University Hospital Santaros Klinikos
Ankara, Hacettepe University Faculty of Medicine (external center)
Berlin, Charité – Universitätsmedizin Berlin (external center)
Oviedo, Asturias, Hospital Universitario, Oviedo University (external center)
Tehran University of Medical Sciences (external center)
Weisenbach Test Centre (external Centre)
Source ERKNet website.
Those in bold lettering have attained TMA expert status. If you are an aHUS patient at these centres it is possible that you could be enrolled in the Registry . If not treated by them then you are not enrolled so far.
All Registries have to start somewhere. According to ERKNet’s website there are around 40,000 rare renal patients treated at all the Expert Centres so far recruited to the network. These are from a number of countries in Europe. ( plus non EU counties like Turkey and Iran). So there is a long way to go.
How many aHUS will be enrolled in the Registry? That is anybody’s guess. Until there is a publication about the characteristics by ERKNet’s TMA working group, it will remain unknown.
It will also be some time ,maybe a decade,before anything is reported on the outcomes of treated patients as treatment protocols are defined, redefined and developed and progress evaluated ,which is the prime objective of this Registry.
The aHUS patient community is fortunate in having so many patient registries , many rare diseases do not have any.
aHUS patients have their own research agenda and a declared willingness to support activities such as registries which can give them answers.
Article written by aHUS alliance representative on the aHUS Registry Scientific Advisory Board who receives honoraria for the work.Len Woodward