Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?

Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available in the form of enzyme replacement therapy with intravenous idursulfase (Elaprase®, Shire). Since 2005, the Hunter Outcome Survey (HOS) has collected real-world, long-term data on the safety and effectiveness of this therapy, as well as the natural history of MPS II. Individuals with a confirmed diagnosis of MPS II who are untreated or who are receiving/have received treatment with idursulfase or bone marrow transplant can be enrolled in HOS. A broad range of disease- and treatment-related information is captured in the registry and, over the past decade, data from more than 1000 patients from 124 clinics in 29 countries have been collected. Evidence generated from HOS has helped to improve our understanding of disease progression in both treated and untreated patients and has extended findings from the formal clinical trials of idursulfase. As a long-term, global, observational registry, various challenges relating to data collection, entry, and analysis have been encountered. These have resulted in changes to the HOS database platform, and novel approaches to maximize the value of the information collected will also be needed in the future. The continued evolution of the registry should help to ensure that HOS provides further insights into the burden of the disease and patient care and management in the coming years.

Section: Introductionmentioning

confidence: 99%

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Muenzer

Jones

Tylki‐Szymańska

et al. 2017

“…The effective engagement of patients in research on rare diseases is currently an area of increasing interest [8, 20]. This has come about as a result of governments giving greater priority and incentives for rare disease research, including through orphan drug legislation, [21, 22] and promotion by policy makers [20, 23].…”

Section: Discussionmentioning

confidence: 99%

“…However, such activities do not give patients input to the research process; for a successful registry, providing a voice for patients to help recruitment, encourage active participation and influence the research agenda is key. Although there may occasionally be reluctance on the part of patients and academics to engage in partnerships with industry, the significant effort and costs of a patient registry are best met through public/private partnership [7, 8]. Therefore enhancing communication and understanding between these groups is imperative.…”

Section: Introductionmentioning

confidence: 99%

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

Woodward¹,

Johnson

Walle

et al. 2016

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).

“…These stakeholders can help authorities understand what outcomes are relevant in a disease and what level of improvement is clinically meaningful. HCPs and patients have the expertise and experience to discuss HRQoL, burden of disease and patient preferences [67, 74, 75]. Clinical experts and patients may also help interpret the relevance of trial data, where endpoints might be unusual or not validated in the disease in question.…”

Section: Principles On Omp Decision Processmentioning

confidence: 99%

“…For example, patient interviews and surveys have been instrumental in establishing knowledge about the ways in which rare diseases affect patients, their families and the costs they impose on wider society [79]. Finally, patients and HCPs can provide insights into the current patient treatment pathways and identify issues with current treatments and expectations from new therapies [69, 75, 77]. …”

Section: Principles On Omp Decision Processmentioning

confidence: 99%

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)

Annemans

Aymé

Cam

et al. 2017

102

Rare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research and development of OMPs. Despite this advancement, patients do not have universal access to these new medicines. There are many factors that affect OMP uptake, but one of the most important is the difficulty of making pricing and reimbursement (P&R) decisions in rare diseases. Until now, there has been little consensus on the most appropriate assessment criteria, perspective or appraisal process. This paper proposes nine principles to help improve the consistency of OMP P&R assessment in Europe and ensure that value assessment, pricing and funding processes reflect the specificities of rare diseases and contribute to both the sustainability of healthcare systems and the sustainability of innovation in this field. These recommendations are the output of the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL), a collaboration between rare disease experts, patient representatives, academics, health technology assessment (HTA) practitioners, politicians and industry representatives. ORPH-VAL reached its recommendations through careful consideration of existing OMP P&R literature and through a wide consultation with expert stakeholders, including payers, regulators and patients. The principles cover four areas: OMP decision criteria, OMP decision process, OMP sustainable funding systems and European co-ordination. This paper also presents a guide to the core elements of value relevant to OMPs that should be consistently considered in all OMP appraisals. The principles outlined in this paper may be helpful in drawing together an emerging consensus on this topic and identifying areas where consistency in payer approach could be achievable and beneficial. All stakeholders have an obligation to work together to ensure that the promise of OMP’s is realised.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0601-9) contains supplementary material, which is available to authorized users.