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

Joseph Muenzer,
Simon A. Jones,
Anna Tylki-Szymańska,
Paul Harmatz,
Nancy J. Mendelsohn,
Nathalie Guffon,
Roberto Giugliani,
Barbara K. Burton,
Maurizio Scarpa,
Michael Beck,
Yvonne Jangelind,
Elizabeth Hernberg-Stahl,
Maria Paabøl Larsen,
Tom Pulles and
David A. H. WhitemanEmail author

Orphanet Journal of Rare Diseases201712:82

DOI: 10.1186/s13023-017-0635-z

Received: 19 December 2016

Accepted: 13 April 2017

Published: 2 May 2017

Abstract

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.