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Initial report from the Hunter Outcome Survey

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Initial report from the Hunter Outcome Survey. / Wraith, J Edmond; Beck, Michael; Giugliani, Roberto; Clarke, Joe; Martin, Rick; Muenzer, Joseph; HOS Investigators ; Muschol, Nicole Maria.

In: GENET MED, Vol. 10, No. 7, 01.07.2008, p. 508-16.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Wraith, JE, Beck, M, Giugliani, R, Clarke, J, Martin, R, Muenzer, J, HOS Investigators & Muschol, NM 2008, 'Initial report from the Hunter Outcome Survey', GENET MED, vol. 10, no. 7, pp. 508-16. https://doi.org/10.1097GIM.0b013e31817701e6

APA

Wraith, J. E., Beck, M., Giugliani, R., Clarke, J., Martin, R., Muenzer, J., HOS Investigators, & Muschol, N. M. (2008). Initial report from the Hunter Outcome Survey. GENET MED, 10(7), 508-16. https://doi.org/10.1097GIM.0b013e31817701e6

Vancouver

Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J et al. Initial report from the Hunter Outcome Survey. GENET MED. 2008 Jul 1;10(7):508-16. https://doi.org/10.1097GIM.0b013e31817701e6

Bibtex

@article{fca07cde33be4703bd972919c2f89a90,
title = "Initial report from the Hunter Outcome Survey",
abstract = "PURPOSE: Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and in affected patients glycosaminoglycan accumulates in lysosomes of various tissues and organs and contributes to the pathophysiology of Hunter syndrome. The Hunter Outcome Survey (HOS) was established to better describe the natural history of this disorder and to evaluate the long-term effect of enzyme replacement therapy.METHODS: HOS is an international, multicenter, long-term observational survey that will collect data on participating patients with a confirmed diagnosis of Hunter syndrome. Data will be collected during regular physician examinations and entered into an electronic database. Examples of observations include vital signs, laboratory values, signs and symptoms of organ involvement, and the results of selected functional tests (e.g., audiometry, echocardiogram, joint mobility, etc.).RESULTS: As of May 15, 2007, 263 patients from 16 countries have enrolled in HOS; 24% of these patients were currently being treated with enzyme replacement therapy. The median age at enrollment was 12.2 years. The median age of onset of symptoms and diagnosis of Hunter syndrome were 1.5 and 3.5 years, respectively. Otitis media and abdominal hernia were the earliest presenting symptoms. Facial dysmorphism and hepatosplenomegaly were demonstrated by 95% and 89% of patients, respectively.CONCLUSIONS: HOS will be a valuable resource for enhancing the understanding of Hunter syndrome and will provide important information about the natural history of the disease and the role of enzyme replacement therapy in its treatment. Patients and their physicians should be encouraged to participate.",
keywords = "Body Weights and Measures, Child, Cross-Sectional Studies, Female, Glycoproteins, Humans, Male, Mucopolysaccharidosis II, Mutation, Phenotype, Prevalence, Treatment Outcome",
author = "Wraith, {J Edmond} and Michael Beck and Roberto Giugliani and Joe Clarke and Rick Martin and Joseph Muenzer and {HOS Investigators} and Muschol, {Nicole Maria}",
year = "2008",
month = jul,
day = "1",
doi = "10.1097GIM.0b013e31817701e6",
language = "English",
volume = "10",
pages = "508--16",
journal = "GENET MED",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "7",

}

RIS

TY - JOUR

T1 - Initial report from the Hunter Outcome Survey

AU - Wraith, J Edmond

AU - Beck, Michael

AU - Giugliani, Roberto

AU - Clarke, Joe

AU - Martin, Rick

AU - Muenzer, Joseph

AU - HOS Investigators

AU - Muschol, Nicole Maria

PY - 2008/7/1

Y1 - 2008/7/1

N2 - PURPOSE: Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and in affected patients glycosaminoglycan accumulates in lysosomes of various tissues and organs and contributes to the pathophysiology of Hunter syndrome. The Hunter Outcome Survey (HOS) was established to better describe the natural history of this disorder and to evaluate the long-term effect of enzyme replacement therapy.METHODS: HOS is an international, multicenter, long-term observational survey that will collect data on participating patients with a confirmed diagnosis of Hunter syndrome. Data will be collected during regular physician examinations and entered into an electronic database. Examples of observations include vital signs, laboratory values, signs and symptoms of organ involvement, and the results of selected functional tests (e.g., audiometry, echocardiogram, joint mobility, etc.).RESULTS: As of May 15, 2007, 263 patients from 16 countries have enrolled in HOS; 24% of these patients were currently being treated with enzyme replacement therapy. The median age at enrollment was 12.2 years. The median age of onset of symptoms and diagnosis of Hunter syndrome were 1.5 and 3.5 years, respectively. Otitis media and abdominal hernia were the earliest presenting symptoms. Facial dysmorphism and hepatosplenomegaly were demonstrated by 95% and 89% of patients, respectively.CONCLUSIONS: HOS will be a valuable resource for enhancing the understanding of Hunter syndrome and will provide important information about the natural history of the disease and the role of enzyme replacement therapy in its treatment. Patients and their physicians should be encouraged to participate.

AB - PURPOSE: Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and in affected patients glycosaminoglycan accumulates in lysosomes of various tissues and organs and contributes to the pathophysiology of Hunter syndrome. The Hunter Outcome Survey (HOS) was established to better describe the natural history of this disorder and to evaluate the long-term effect of enzyme replacement therapy.METHODS: HOS is an international, multicenter, long-term observational survey that will collect data on participating patients with a confirmed diagnosis of Hunter syndrome. Data will be collected during regular physician examinations and entered into an electronic database. Examples of observations include vital signs, laboratory values, signs and symptoms of organ involvement, and the results of selected functional tests (e.g., audiometry, echocardiogram, joint mobility, etc.).RESULTS: As of May 15, 2007, 263 patients from 16 countries have enrolled in HOS; 24% of these patients were currently being treated with enzyme replacement therapy. The median age at enrollment was 12.2 years. The median age of onset of symptoms and diagnosis of Hunter syndrome were 1.5 and 3.5 years, respectively. Otitis media and abdominal hernia were the earliest presenting symptoms. Facial dysmorphism and hepatosplenomegaly were demonstrated by 95% and 89% of patients, respectively.CONCLUSIONS: HOS will be a valuable resource for enhancing the understanding of Hunter syndrome and will provide important information about the natural history of the disease and the role of enzyme replacement therapy in its treatment. Patients and their physicians should be encouraged to participate.

KW - Body Weights and Measures

KW - Child

KW - Cross-Sectional Studies

KW - Female

KW - Glycoproteins

KW - Humans

KW - Male

KW - Mucopolysaccharidosis II

KW - Mutation

KW - Phenotype

KW - Prevalence

KW - Treatment Outcome

U2 - 10.1097GIM.0b013e31817701e6

DO - 10.1097GIM.0b013e31817701e6

M3 - SCORING: Journal article

C2 - 18580692

VL - 10

SP - 508

EP - 516

JO - GENET MED

JF - GENET MED

SN - 1098-3600

IS - 7

ER -