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

Orphanet Journal of Rare Diseases

Volumn 12, Issue 1, 2017, Pages

  Muenzer, Joseph ^a   Jones, Simon A ^b   Tylki Szymańska, Anna ^c   Harmatz, Paul ^d   Mendelsohn, Nancy J ^e,f   Guffon, Nathalie ^g   Giugliani, Roberto ^h   Burton, Barbara K ⁱ   Scarpa, Maurizio ^j,k   Beck, Michael ^l   Jangelind, Yvonne ^m   Hernberg Stahl, Elizabeth ⁿ   Larsen, Maria Paabøl ^o,q   Pulles, Tom ^p,r   Whiteman, David A H ^o  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b ST MARY S HOSPITAL   (United Kingdom)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d CHILDREN S HOSPITAL OAKLAND   (United States)

^e Childrens Hospitals and Clinics of Minnesota   (United States)

^f UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^g HOSPICES CIVILS DE LYON   (France)

^h HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

ⁱ NORTHWESTERN UNIVERSITY   (United States)

^j DR HORST SCHMIDT KLINIKEN   (Germany)

^k UNIVERSITY OF PADOVA   (Italy)

^l JOHANNES GUTENBERG UNIVERSITY   (Germany)

^m Jangelind Consulting AB   (Sweden)

ⁿ Late Phase Solutions Europe AB   (Sweden)

^o Shire Human Genetic Therapies Inc   (United States)

^p SHIRE   (Switzerland)

^q SHIONOGI AND CO LTD   (Japan)

^r ULTRAGENYX PHARMACEUTICAL INC   (United States)

more..

Author keywords

Enzyme replacement therapy; Hunter syndrome; Mucopolysaccharidosis type II; Patient registry

Indexed keywords

IDURONATE 2 SULFATASE;

CLINICAL FEATURE; DISEASE COURSE; DISEASE REGISTRY; DRUG EFFICACY; DRUG SAFETY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUNTER SYNDROME; PATIENT CARE; PATIENT INFORMATION; REVIEW; TREATMENT OUTCOME; TREND STUDY; ENZYME REPLACEMENT; FACTUAL DATABASE; REGISTER; STANDARDS; STATISTICS AND NUMERICAL DATA;

DATABASES, FACTUAL; ENZYME REPLACEMENT THERAPY; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II; REGISTRIES;

EID: 85019023845     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-017-0635-z     Document Type: Review

References (45)

1. Potter BK, Khangura SD, Tingley K, Chakraborty P, Little J. Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research? Genet Med. 2016;18(2):117-23.
2. Jones S, James E, Prasad S. Disease registries and outcomes research in children: focus on lysosomal storage disorders. Paediatr Drugs. 2011;13(1):33-47.
3. Registries for Evaluating Patient Outcomes: A User's Guide. In: Gliklich RE, Dreyer NA, Leavy MB, editors. Registries for Evaluating Patient Outcomes: A User's Guide. 3rd ed. Rockville: Agency for Healthcare Research and Quality (US); 2014.
4. Rare Disease Registries in Europe. Orphanet Report Series, Rare Diseases collection [http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf]. Accessed 23 Apr 2017.
5. Byrne BJ, Kishnani PS, Case LE, Merlini L, Muller-Felber W, Prasad S, van der Ploeg A. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011;103(1):1-11.
6. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, Breunig F, Charrow J, Germain DP, Nicholls K, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007;30(2):184-92.
7. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120(2):405-18.
8. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34(3):236-42.
9. Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30(2):165-74.
10. Pastores GM, Arn P, Beck M, Clarke JT, Guffon N, Kaplan P, Muenzer J, Norato DY, Shapiro E, Thomas J, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab. 2007;91(1):37-47.
11. Weinreb NJ, Kaplan P. The history and accomplishments of the ICGG Gaucher registry. Am J Hematol. 2015;90 Suppl 1:S2-5.
12. Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J, Investigators HOS. Initial report from the Hunter Outcome Survey. Genet Med. 2008;10(7):508-16.
13. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249-54.
14. Neufeld EF, Muenzer J. The Mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. p. 3421-52.
15. Tylki-Szymanska A. Mucopolysaccharidosis type II, Hunter’s syndrome. Pediatr Endocrinol Rev. 2014;12 Suppl 1:107-13.
16. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschutter A, Kampmann C, Beck M. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28(6):1011-7.
17. Guffon N, Bertrand Y, Forest I, Fouilhoux A, Froissart R. Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. J Pediatr. 2009;154(5):733-7.
18. Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124(6):e1228-1239.
19. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006;8(8):465-73.
20. Muenzer J, Gucsavas-Calikoglu M, McCandless SE, Schuetz TJ, Kimura A. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab. 2007;90(3):329-37.
21. Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med. 2011;13(2):95-101.
22. Giugliani R, Hwu WL, Tylki-Szymanska A, Whiteman DA, Pano A. A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy. Genet Med. 2014;16(6):435-41.
23. Cohn GM, Morin I, Whiteman DA, Hunter Outcome Survey I. Development of a mnemonic screening tool for identifying subjects with Hunter syndrome. Eur J Pediatr. 2013;172(7):965-70.
24. Jones SA, Almassy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, et al. Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 2009;32(4):534-43.
25. Kampmann C, Beck M, Morin I, Loehr JP. Prevalence and characterization of cardiac involvement in Hunter syndrome. J Pediatr. 2011;159(2):327-31. e322.
26. Keilmann A, Nakarat T, Bruce IA, Molter D, Malm G. Hearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey. J Inherit Metab Dis. 2012;35(2):343-53.
27. Link B, de Camargo Pinto LL, Giugliani R, Wraith JE, Guffon N, Eich E, Beck M. Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. Orthop Rev (Pavia). 2010;2(2):e16.
28. Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med. 2010;12(12):816-22.
29. Parini R, Jones SA, Harmatz PR, Giugliani R, Mendelsohn NJ. The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS). Mol Genet Metab. 2016;117:438-56.
30. Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr. 2012;171(4):631-9.
31. Alcalde-Martin C, Muro-Tudelilla JM, Cancho-Candela R, Gutierrez-Solana LG, Pintos-Morell G, Marti-Herrero M, Munguira-Aguado P, Galan-Gomez E. First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS). Eur J Med Genet. 2010;53(6):371-7.
32. Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey. Mol Genet Metab. 2010;101(2-3):123-9.
33. Burton BK, Whiteman DA. Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS). Mol Genet Metab. 2011;103(2):113-20.
34. del Toro-Riera M. [Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry]. Rev Neurol. 2007;44 Suppl 1:S13-17.
35. del Toro-Riera M. World-wide experience in the treatment of mucopolysaccharidosis type II: the Hunter Outcome Survey (HOS) registry. RevNeurol. 2008;47(S02):S3-7.
36. Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ. The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS). Mol Genet Metab. 2013;109(1):41-8.
37. Muenzer J, Beck M, Giugliani R, Suzuki Y, Tylki-Szymanska A, Valayannopoulos V, Vellodi A, Wraith JE. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med. 2011;13(2):102-9.
38. Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014;111(2):63-72.
39. Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Intravenous enzyme replacement therapy: better in home or hospital? Br J Nurs. 2006;15(6):330-3.
40. Wiklund I, Raluy-Callado M, Stull DE, Jangelind Y, Whiteman DA, Chen WH. The Hunter syndrome-functional outcomes for clinical understanding scale (HS-FOCUS) questionnaire: evaluation of measurement properties. Qual Life Res. 2013;22(4):875-84.
41. Wiklund I, Raluy-Callado M, Chen WH, Muenzer J, Fang J, Whiteman D. The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation. Qual Life Res. 2014;23(9):2457-62.
42. Shapiro E, Bernstein J, Adams HR, Barbier AJ, Buracchio T, Como P, Delaney KA, Eichler F, Goldsmith JC, Hogan M, et al. Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol Genet Metab. 2016;118(2):65-9.
43. Scarpa M, Almassy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillen-Navarro E, Hensman P, Jones S, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6:72.
44. Sestito S, Ceravolo F, Grisolia M, Pascale E, Pensabene L, Concolino D. Profile of idursulfase for the treatment of Hunter syndrome. Res Repo Endoc Disord. 2015;5:79-90.
45. Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Munoz V, Muenzer J. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121(2):e377-386.