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).

Adding patient-reported outcomes to a multisite registry to quantify quality of life and experiences of disease and treatment for youth with juvenile idiopathic arthritis

“…Where underlying conditions are uncommon or rare, as with JIA, disease registries may shed light on clinical factors and disease features relevant to understanding a condition and its course to support wellbeing [ 15 , 16 ]. For The Learning Cohort (TLC) study, we extended the registry model, leveraging the scalable informatics infrastructure constructed for the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry [ 17 – 19 ], so as to enable Registry members with a diagnosis of JIA and their parent proxies to contribute Patient Reported Outcomes (PROs) for integration with Registry data.…”

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

“…This view is substantiated by scientific reports that describe the usefulness of well-designed and well-managed rare disease registries as collectors of natural history and “real world” data [ 67 – 71 ]. Few interesting examples of collaborative partnerships engaging patients, health professionals and industry concern international efforts on other diseases, such as the Cystic Fibrosis registry [ 72 , 73 ] or the Global atypical Haemolytic Uremic Syndrome registry [ 74 ]. The Italian NMD Registry represents an interesting example of the interaction between a private entity (the ADR) and academic hospitals or other private or public health institutes to implement the collection of natural history and “real world” clinical data through a nationwide collaborative effort derived from the fact that therapeutic strategies for some NMD were already available or upcoming.…”

Long-term outcomes of the Atypical Hemolytic Uremic Syndrome after kidney transplantation treated with eculizumab as first choice

“…There are reports of aHUS occurring in previously asymptomatic donors after donation, potentially triggered by the surgical procedure (complement amplifying condition)[ 17 ]. The use of eculizumab in kidney transplantation has been chosen as a question of priority, deserving investigation in an initiative of cooperation between patient associations and the global registry of aHUS[ 18 ]. Older studies suggest the combination of kidney and liver transplantation, aiming to avoid relapses in patients with certain dysfunctions of complement factors [ 19 ].…”