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

Public Deposited
Analytics

Downloadable Content

Download PDF
Request Version for Screen Reader
Creator
  • Muenzer, Joseph
    • Affiliation: School of Medicine, Department of Pediatrics
  • Jones, Simon A
    • Other Affiliation: Willink Unit, Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester and Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
  • Tylki-Szymańska, Anna
    • Other Affiliation: Department of Pediatric Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland
  • Harmatz, Paul
    • Other Affiliation: UCSF Benioff Children’s Hospital Oakland, Oakland, CA, USA
  • Mendelsohn, Nancy J
    • Other Affiliation: Genomic Medicine Program, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN, USA; Department of Pediatrics, Division of Genetics, University of Minnesota, Minneapolis, MN, USA
  • Guffon, Nathalie
    • Other Affiliation: Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Bron, France
  • Giugliani, Roberto
    • Other Affiliation: Department of Genetics/UFRGS and INAGEMP, Medical Genetics Service/HCPA, Porto Alegre, Brazil
  • Burton, Barbara K
    • Other Affiliation: Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University, Chicago, IL, USA
  • Scarpa, Maurizio
    • Other Affiliation: Rare Disease Centre, Helios Dr Horst Schmidt Clinic, Wiesbaden, Germany; Department of Women’s and Children’s Health, University of Padova, Padova, Italy
  • Beck, Michael
    • Other Affiliation: Department of Pediatrics, University Medical Center, Johannes Gutenberg University, Mainz, Germany
  • Jangelind, Yvonne
    • Other Affiliation: Jangelind Consulting AB, Stockholm, Sweden
  • Hernberg-Stahl, Elizabeth
    • Other Affiliation: Late Phase Solutions Europe AB, Täby, Sweden
  • Larsen, Maria P
    • Other Affiliation: Shire Human Genetic Therapies, Inc., 300 Shire Way HA100-310, Lexington, MA 02421, USA; Present address: Shionogi, Inc., Florham Park, NJ, USA
  • Pulles, Tom
    • Other Affiliation: Shire, Zug, Switzerland; Present address: Ultragenyx Pharmaceutical, Inc., Basel, Switzerland
  • Whiteman, David A H
    • Other Affiliation: Shire Human Genetic Therapies, Inc., 300 Shire Way HA100-310, Lexington, MA 02421, USA
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.
Date of publication
DOI
Identifier
Resource type
  • Article
Rights statement
  • In Copyright
Rights holder
  • The Author(s).
Journal title
  • Orphanet Journal of Rare Diseases
Journal volume
  • 12
Journal issue
  • 1
Page start
  • 82
Language
  • English
Bibliographic citation
  • Orphanet Journal of Rare Diseases. 2017 May 02;12(1):82
Publisher
  • BioMed Central

Relations

Parents:

This work has no parents.

Items

Thumbnail Title Date Uploaded Visibility Actions
file details 13023_2017_article_635.pdf 2019-05-07 Public Download