Read by QxMD icon Read


Karolina Orchel-Szastak, Katarzyna Ptak, Katarzyna Hrnciar, Bożena Pilch, Urszula Kania, Mirosław Bik-Multanowski
We present an unexpected outcome of 10 years of enzyme replacement therapy of a boy with mucopolysaccharidosis type II. Due to a positive familiar history (severe disease course in a sibling) the diagnosis was established in the first month of life. Treatment with Elaprase was introduced two months later. Since then normal physical and mental development is observed. The patient presents only relatively large head circumference (+2.1 SD) and slight decrease of joints mobility. In our opinion, early introduction of enzyme replecement therapy could attenuate the disease course...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
David Ah Whiteman, Alan Kimura
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, multisystemic, progressive lysosomal storage disease caused by deficient activity of the iduronate-2-sulfatase (I2S) enzyme. Accumulation of the glycosaminoglycans dermatan sulfate and heparan sulfate results in a broad range of disease manifestations that are highly variable in presentation and severity; notably, approximately two-thirds of individuals are affected by progressive central nervous system involvement. Historically, management of this disease was palliative; however, during the 1990s, I2S was purified to homogeneity for the first time, leading to cloning of the corresponding gene and offering a means of addressing the underlying cause of MPS II using enzyme replacement therapy (ERT)...
2017: Drug Design, Development and Therapy
Luying Pan, Kelly Hilton, Marie Nadeau, Thomas McCauley, Yongchang Qiu
AIM: Legacy methods with complex testing scheme for characterization of anti-idursulfase antibodies (ADA) were simplified and optimized in order to meet current regulatory guidance and provide more timely and cost-effective support for routine patient care. RESULTS: To compare the performance of the original and updated methods, patient samples receiving commercially prescribed Elaprase treatment were analyzed by both test methods. The ADA and neutralizing antibody results obtained by both methods were highly correlated and the updated method had an overall higher ADA and neutralizing antibody positive rates and higher ADA titers...
August 2017: Bioanalysis
Lock-Hock Ngu, Winnie Ong Peitee, Huey Yin Leong, Hui Bein Chew
Mucopolysaccharidosis (MPS) II or Hunter syndrome is a chronic, progressive, multi-systemic illness associated with significant morbidity and early mortality. Available evidence in Asian populations shows that Hunter syndrome has a mean age of onset of 2 to 5 years and a life expectancy of 13 years in more severely affected individuals, with respiratory failure reported as the leading cause of death. Enzyme replacement therapy (ERT) with idursulfase (Elaprase, Shire Pharmaceuticals) and idursulfase beta (Hunterase, Green Cross Corp) are the only approved treatment for patients with MPS II...
September 2017: Molecular Genetics and Metabolism Reports
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, David A H Whiteman
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...
May 2, 2017: Orphanet Journal of Rare Diseases
Konstantins Logviss, Dainis Krievins, Santa Purvina
BACKGROUND: Number of orphan medicinal products on the market and number of rare disease patients, taking these usually expensive products, are increasing. As a result, budget impact of orphan drugs is growing. This factor, along with the cost-effectiveness of orphan drugs, is often considered in the reimbursement decisions, directly affecting accessibility of rare disease therapies. The current study aims to assess the budget impact of orphan drugs in Latvia. METHODS: Our study covered a 5-year period, from 2010 to 2014...
May 11, 2016: Orphanet Journal of Rare Diseases
Roberto Giugliani, Martha Luz Solano Villarreal, C Araceli Arellano Valdez, Antonieta Mahfoud Hawilou, Norberto Guelbert, Luz Norela Correa Garzón, Ana Maria Martins, Angelina Acosta, Juan Francisco Cabello, Aída Lemes, Mara Lucia Schmitz Ferreira Santos, Hernán Amartino
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment...
June 2014: Genetics and Molecular Biology
Yo Kyung Chung, Young Bae Sohn, Jong Mun Sohn, Jieun Lee, Mi Sun Chang, Younghee Kwun, Chi Hwa Kim, Jin Young Lee, Yeon Joo Yook, Ah-Ra Ko, Dong-Kyu Jin
Mucopolysaccharidosis II (MPS II, Hunter syndrome; OMIM 309900) is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans (GAGs). For enzyme replacement therapy (ERT) of Hunter syndrome, two recombinant enzymes, idursulfase (Elaprase(®), Shire Human Genetic Therapies, Lexington, MA) and idursulfase beta (Hunterase(®), Green Cross Corporation, Yongin, Korea), are currently available in Korea. To compare the biochemical and physicochemical differences between idursulfase and idursulfase beta, we examined the formylglycine (FGly) content, specific enzyme activity, mannose-6-phosphate (M6P) content, sialic acid content, and in vitro cell uptake activity of normal human fibroblasts of these two enzymes...
May 2014: Glycoconjugate Journal
Sung Yoon Cho, Rimm Huh, Mi Sun Chang, Jieun Lee, Younghee Kwun, Se Hyun Maeng, Su Jin Kim, Young Bae Sohn, Sung Won Park, Eun-Kyung Kwon, Sun Ju Han, Jooyoun Jung, Dong-Kyu Jin
Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase (Elaprase®) or idursulfase beta (Hunterase®) have been developed for these patients. The effect of ERT on the growth of Korean patients with Hunter syndrome was evaluated at a single center. This study comprised 32 patients, who had received ERT for at least 2 yr; they were divided into three groups according to their ages at the start of ERT: group 1 (<6 yr, n=14), group 2 (6-10 yr, n=11), and group 3 (10-20 yr, n=7)...
February 2014: Journal of Korean Medical Science
Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Anna Tylki-Szymańska
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase. Early bone involvement leads to decreased growth velocity and short stature in nearly all patients. Our analysis aimed to investigate the effects of enzyme replacement therapy (ERT) with idursulfase (Elaprase) on growth in young patients with mucopolysaccharidosis type II. Analysis of longitudinal anthropometric data of MPS II patients (group 1, n = 13) who started ERT before 6 years of age (range from 3 months to 6 years, mean 3...
2014: PloS One
Antonius Christianto, Hiromi Watanabe, Takashi Nakajima, Tetsuya Inazu
Mucopolysaccharidosis II (Hunter syndrome), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Total by nearly 400 different mutations have been identified in IDS gene from patients with Hunter syndrome. Herein, we reported a patient who has a novel mutation in IDS gene with a severe clinical phenotype. Genetic analysis of the IDS gene revealed a novel 1-bp deletion in position c.1053T in exon 8 and resulting in a frameshift with a premature stop codon...
August 23, 2013: Clinica Chimica Acta; International Journal of Clinical Chemistry
J Kim, M R Park, D S Kim, J O Lee, S H Maeng, S Y Cho, Y Han, K Ahn, D K Jin
BACKGROUND: Enzyme replacement therapy (ERT) with recombinant human idursulfase is effective for the treatment of Hunter syndrome, mucopolysaccharidosis (MPS) type II. However, various adverse events can occur by the infusion of idursulfase. The purpose was to evaluate the occurrence of infusion-related allergic reactions, including anaphylaxis, to idursulfase in patients with MPS II receiving ERT and to elucidate its possible mechanism. METHODS: A total of 34 patients with MPS II were enrolled to receive ERT with Elaprase(®) at a dose of 0...
June 2013: Allergy
Emma Glamuzina, Emma Fettes, Katie Bainbridge, Victoria Crook, Niamh Finnegan, Lara Abulhoul, Ashok Vellodi
The current treatment of mucopolysaccharidosis type II (MPS II, Hunter syndrome) is enzyme replacement therapy with recombinant idursulfase (Elaprase®). The efficacy of ERT was established based primarily on reduction in urine glycosaminoglycans:creatinine (GAG:Cr) ratio and improvement in a composite score of predicted forced vital capacity (FVC% predicted) and 6-min walk-test distance (6MWT). We retrospectively reviewed these parameters in 11 boys with MPS II treated with idursulfase between April 2007 (or the time of diagnosis) and February 2010...
June 2011: Journal of Inherited Metabolic Disease
D P Germain, C Boucly, R Y Carlier, E Caudron, P Charlier, F Colas, F Jabbour, V Martinez, S Mokhtari, D Orlikowski, N Pellegrini, C Perronne, H Prigent, R Rubinsztajn, K Benistan
Extraction and purification of an acid β-glucosidase from human placenta (alglucerase) for the treatment of Gaucher disease, replaced a few years later by a recombinant enzyme (imiglucérase, Cerezyme(®)), has paved the way to the development of enzyme replacement therapies (ERT) for the treatment of lysosomal storage diseases (LSD) among which Fabry disease for which the long-term efficacy of the two currently available preparations (agalsidase alfa, Replagal(®) and Fabrazyme(®)) is still being investigated...
December 2010: La Revue de Médecine Interne
G Schulze-Frenking, Simon A Jones, J Roberts, M Beck, J E Wraith
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase. It has multisystemic involvement, with manifestations in the brain, upper respiratory tract, heart, abdomen, joints and bones. Bone involvement leads to decreased growth velocity and short stature in nearly all patients. A therapeutic option for patients with MPS II is enzyme replacement therapy (ERT) with idursulfase (Elaprase®). We compared annual growth rates before and during ERT in 18 patients from Mainz, Germany, and Manchester, UK...
February 2011: Journal of Inherited Metabolic Disease
Renzo Manara, Angelica Rampazzo, Mara Cananzi, Leonardo Salviati, Rodica Mardari, Paola Drigo, Rosella Tomanin, Nicoletta Gasparotto, Elena Priante, Maurizio Scarpa
Mucopolysaccharidosis type II (MPS-II, Hunter disease) is a X-linked recessive disorder. Affected females are extremely rare, mostly due to skewed X chromosome inactivation. A few papers outline MPS-II brain magnetic resonance imaging (MRI) "gestalt" in males, but neuroradiological reports on females are still lacking. We present an 11-year-old girl affected by the severe form of MPS-II who was followed up over a time span of 8 years, focusing on clinical and brain MRI evolution. In the last 2.5 years, the patient has been treated with enzyme replacement therapy (ERT) with idursulfase (Elaprase™, Shire Human Genetic Therapies AB, Sweden)...
December 2010: Journal of Inherited Metabolic Disease
Torayuki Okuyama, Akemi Tanaka, Yasuyuki Suzuki, Hiroyuki Ida, Toju Tanaka, Gerald F Cox, Yoshikatsu Eto, Tadao Orii
This open-label clinical study enrolled 10 adults with attenuated Mucopolysaccharidosis II and advanced disease under the direction of the Japan Society for Research on Mucopolysaccharidosis Disorders prior to regulatory approval of idursulfase in Japan. Ten male patients, ages 21-53 years, received weekly intravenous infusions of 0.5 mg/kg idursulfase for 12 months. Significant reductions in lysosomal storage and several clinical improvements were observed during the study (mean changes below). Urinary glycosaminoglycan excretion decreased rapidly within the first three months of treatment and normalized in all patients by study completion (-79...
January 2010: Molecular Genetics and Metabolism
T Andrew Burrow, Nancy D Leslie
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a heterogeneous, progressive X-linked recessively inherited lysosomal storage disease that is caused by a deficiency of the enzyme iduronate-2-sulfatase, resulting in abnormal tissue accumulation of the glycosaminoglycans, dermatan sulfate and heparan sulfate. The disorder results from mutations in IDS, which is located at Xq28. Over 300 pathogenic mutations have been identified to date. The management of MPS II requires multidisciplinary care because of the many affected organ systems...
June 2008: Biologics: Targets & Therapy
S Bagewadi, J Roberts, J Mercer, S Jones, J Stephenson, J E Wraith
Enzyme replacement therapy for lysosomal storage disorders has made an important contribution to improving the quality of life of affected patients. The treatment, however, is invasive and onerous, involving weekly or biweekly intravenous infusions of product over a 3-4 h period. Such therapy can be extremely disruptive of normal family life and the provision of a safe, home treatment regimen is greatly appreciated by affected families. In this report we demonstrate the safety of home treatment with Elaprase for mucopolysaccharidosis type II (17 patients) and Naglazyme for mucopolysaccharidosis type VI (6 patients)...
December 2008: Journal of Inherited Metabolic Disease
Grazyna Zareba
Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare X-linked lysosomal storage disorder caused by the deficiency of enzyme iduronate-2-sulfatase (I2S), which results in accumulation of undegraded dermatan and heparan sulfate in various tissues and organs. Enzyme replacement therapy with Elaprase (idursulfase, a recently approved orphan product) is the first treatment for Hunter syndrome. Results of the randomized, double-blind, placebo-controlled phase II/III clinical trial of idursulfase demonstrated that weekly infusions of idursulfase increase walking distance and improve pulmonary function as well as reduce organ size and urinary glycosaminoglycans (GAGs) excretion in MPS II patients...
November 2007: Drugs of Today
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"