Article No. 438
1 June 2021
One of six pillars of hope for those with a rare disease, is having a patient registry for their disease.
The vast majority of rare diseases do not have a patient registry.
A recently published article focused on ten patient registries relating aHUS. There are more but these had insufficient information about them to be included in a research study.
The article which featured in the Orphanet Journal of Rare Diseases was written by a group from the University of Medical Science, Tehran, Iran. The Group included Prof. Nakysa Hooman, who is well known to the aHUS alliance as a champion of Iranian aHUS patients.
Its title is
and as it is open access it can be read in full at the above link.
The aim of the Group was establish a learning framework for the development and implementation of a patient registry for aHUS.
The Group began by looking for HUS/TMA registries on the Orphanet website. Then looked further for on line literature about HUS registries and from an initial list of 41 found 10 which met their inclusion/exclusion criteria.
*inactive **active status not known
The oldest registry is in Oklahoma. Established in 1989 to collect data about patients who had been treated with Plasma Exchange. Its current activity status is uncertain.
Still active however is Registry 2 created by Mario Negri Institute for TTP/HUS/aHUS. It reaches its 25th anniversary this year. The work of this research institute has featured on this website including a report of a visit made to the expert centre in Bergamo, Italy by the aHUS alliance.
Perhaps the best known registry is number 8, which is the Alexion Registry.
The Registries were examined for scope and purpose, inclusion/exclusion criteria. minimum data sets, data sources, data collection , registry data quality and registrars, such is the complexity of managing patient registries.
Overall the Group observed that registries for rare diseases were much wider in purpose and scope than for non rare diseases- less patients but more data for rare, compared with more patients less data for common.
The Study concluded their research with a Learning Framework for Implementing HUS Registries which was presented as a diagram in Fig.1 in the publication, and it can be viewed here
It was surprising that registry governance and funding looked at as factors.
And it is rather disappointing that “patients included” was not a factor which featured in the framework which emerged.
However, whilst it in no way diminishing the horror of an haematological emergency like aHUS, this study illustrates how very fortunate aHUS patients are that the disease has had the attention it has for research and treatments. With registries contributing their part.
Providing a pillar of rare disease hope.