An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry

Abstract

Background: Patients are becoming increasingly involved in research which can promote innovation through novel ideas, support patient-centred actions, and facilitate drug development. For rare diseases, registries that collect data from patients can increase knowledge of the disease's natural history, evaluate clinical therapies, monitor drug safety, and measure quality of care. The active participation of patients is expected to optimise rare-disease management and improve patient outcomes. However, few reports address the type and frequency of interactions involving patients, and what research input patient groups have. Here, we describe a collaboration between an international group of patient organisations advocating for patients with atypical haemolytic uraemic syndrome (aHUS), the aHUS Alliance, and an international aHUS patient registry (ClinicalTrials.gov NCT01522183).

Results: The aHUS Registry Scientific Advisory Board (SAB) invited the aHUS Alliance to submit research ideas important to patients with aHUS. This resulted in 24 research suggestions from patients and patient organisations being presented to the SAB. The proposals were classified under seven categories, the most popular of which were understanding factors that cause disease manifestations and learning more about the clinical and psychological/social impact of living with the disease. Subsequently, aHUS Alliance members voted for up to five research priorities. The top priority was: "What are the outcomes of a transplant without eculizumab and what non-kidney damage is likely in patients with aHUS?". This led directly to the initiation of an ongoing analysis of the data collected in the Registry on patients with kidney transplants.

Conclusion: This collaboration resulted in several topics proposed by the aHUS Alliance being selected as priority activities for the aHUS Registry, with one new analysis already underway. A clear pathway was established for engagement between a patient advocacy group and an international research network. This should ensure the development of a long-term partnership which clearly benefits both groups.

Keywords: Patient advocacy; Patient engagement; Registry; aHUS.

Fig. 1

Stakeholder collaboration in the aHUS Global Registry. Patient organisations, individual investigators, national coordinators and Alexion Pharmaceuticals have direct representation on the Global Registry SAB. Individual investigators and national coordinators can also contact the sponsor, a process facilitated by the clinical research organisation responsible for the Registry

Fig. 2

Involvement in aHUS research as reported by aHUS Alliance survey respondents in 2014 and 2016

Fig. 3

Enrolment in an aHUS patient registry as reported by aHUS Alliance survey respondents in 2014 and 2016

Fig. 4

Responses to aHUS Alliance 2016 survey question on how to encourage patient participation in research. Patients were asked “In your opinion, what would encourage greater patient participation in research studies or clinical trials?”. Responses were fixed (no free text option) and more than one option could be selected. This question was only included in the 2016 survey