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, Jahrgang 10, Nr. 7, 01.07.2008, S. 508-16.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -