The Experts below are selected from a list of 297 Experts worldwide ranked by ideXlab platform
Joseph Muenzer - One of the best experts on this subject based on the ideXlab platform.
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a phase i ii study of intrathecal idursulfase it in children with severe Mucopolysaccharidosis ii
Genetics in Medicine, 2016Co-Authors: Joseph Muenzer, Christian J Hendriksz, Suresh Vijayaraghavan, Victor Perry, Saikat Santra, Guirish A Solanki, Mary Ann Mascelli, Nan Wang, Kenneth Sciarappa, Ann J BarbierAbstract:A phase I/II study of intrathecal idursulfase-IT in children with severe Mucopolysaccharidosis II
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Mucopolysaccharidosis i management and treatment guidelines
Pediatrics, 2009Co-Authors: Joseph Muenzer, J. Ed Wraith, Lorne A ClarkeAbstract:OBJECTIVE. Disease management for Mucopolysaccharidosis type I has been inconsistent because of disease rarity (∼1 case per 100000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem cell transplantation and the recent introduction of enzyme replacement therapy for Mucopolysaccharidosis I necessitate the establishment of system-specific management guidelines for this condition. METHODS. Twelve international experts on Mucopolysaccharidosis I met in January 2003 to draft management and treatment guidelines for Mucopolysaccharidosis I. Initial guidelines were revised and updated in 2008, on the basis of additional clinical data and therapeutic advances. Recommendations are based on our extensive clinical experience and a review of the literature. RESULTS.All patients with Mucopolysaccharidosis I should receive a comprehensive baseline evaluation, including neurologic, ophthalmologic, auditory, cardiac, respiratory, gastrointestinal, and musculoskeletal assessments, and should be monitored every 6 to 12 months with individualized specialty assessments, to monitor disease progression and effects of intervention. Patients are best treated by a multidisciplinary team. Treatments consist of palliative/supportive care, hematopoietic stem cell transplantation, and enzyme replacement therapy. The patient9s age (>2 years or ≤2 years), predicted phenotype, and developmental quotient help define the risk/benefit profile for hematopoietic stem cell transplantation (higher risk but can preserve central nervous system function) versus enzyme replacement therapy (low risk but cannot cross the blood-brain barrier). CONCLUSION. We anticipate that provision of a standard of care for the treatment of patients with Mucopolysaccharidosis I will optimize clinical outcomes and patients9 quality of life.
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recognition and diagnosis of Mucopolysaccharidosis ii hunter syndrome
Pediatrics, 2008Co-Authors: Rick A Martin, Paul Harmatz, Roberto Giugliani, Michael Beck, Veronica Munoz, Joseph MuenzerAbstract:Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of glycosaminoglycans. In patients with Mucopolysaccharidosis II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and symptoms of the disease. Mucopolysaccharidosis II affects multiple organs and physiologic systems and has a variable age of onset and variable rate of progression. Common presenting features include excess urinary glycosaminoglycan excretion, facial dysmorphism, organomegaly, joint stiffness and contractures, pulmonary dysfunction, myocardial enlargement and valvular dysfunction, and neurologic involvement. In patients with neurologic involvement, intelligence is impaired, and death usually occurs in the second decade of life, whereas those patients with minimal or no neurologic involvement may survive into adulthood with normal intellectual development. Enzyme replacement therapy has emerged as a new treatment for Mucopolysaccharidosis disorders, including Hunter syndrome. The purpose of this report is to provide a concise review of Mucopolysaccharidosis II for practitioners with the hope that such information will help identify affected boys earlier in the course of their disease.
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significantly increased lifespan and improved behavioral performances by raav gene delivery in adult Mucopolysaccharidosis iiib mice
Gene Therapy, 2007Co-Authors: Haiyan Fu, Lu Kang, Jerillyn S Jennings, Antonio Perez, J Dirosario, Douglas M Mccarty, Joseph MuenzerAbstract:Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult Mucopolysaccharidosis IIIB mice
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advances in the treatment of Mucopolysaccharidosis type i
The New England Journal of Medicine, 2004Co-Authors: Joseph Muenzer, Amy FisherAbstract:The mucopolysaccharidoses are a group of lysosomal storage diseases caused by a deficiency of enzymes that degrade glycosaminoglycans.1 Mucopolysaccharidosis type I, an autosomal recessive disorder...
Yasuyuki Suzuki - One of the best experts on this subject based on the ideXlab platform.
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Newborn screening of mucopolysaccharidoses: past, present, and future
Journal of Human Genetics, 2020Co-Authors: Nivethitha Arunkumar, Yasuyuki Suzuki, Thomas J. Langan, Molly Stapleton, Francyne Kubaski, Robert W. Mason, Rajendra Singh, Hironori Kobayashi, Seiji Yamaguchi, Kenji OriiAbstract:Mucopolysaccharidoses (MPS) are a subtype of lysosomal storage disorders (LSDs) characterized by the deficiency of the enzyme involved in the breakdown of glycosaminoglycans (GAGs). Mucopolysaccharidosis type I (MPS I, Hurler Syndrome) was endorsed by the U.S. Secretary of the Department of Health and Human Services for universal newborn screening (NBS) in February 2016. Its endorsement exemplifies the need to enhance the accuracy of diagnostic testing for disorders that are considered for NBS. The progression of MPS disorders typically incudes irreversible CNS involvement, severe bone dysplasia, and cardiac and respiratory issues. Patients with MPS have a significantly decreased quality of life if untreated and require timely diagnosis and management for optimal outcomes. NBS provides the opportunity to diagnose and initiate treatment plans for MPS patients as early as possible. Most newborns with MPS are asymptomatic at birth; therefore, it is crucial to have biomarkers that can be identified in the newborn. At present, there are tiered methods and different instrumentation available for this purpose. The screening of quick, cost-effective, sensitive, and specific biomarkers in patients with MPS at birth is important. Rapid newborn diagnosis enables treatments to maximize therapeutic efficacy and to introduce immune tolerance during the neonatal period. Currently, newborn screening for MPS I and II has been implemented and/or in pilot testing in several countries. In this review article, historical aspects of NBS for MPS and the prospect of newborn screening for MPS are described, including the potential tiers of screening.
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long term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with Mucopolysaccharidosis type ii a nationwide survey in japan
Molecular Genetics and Metabolism, 2012Co-Authors: Akemi Tanaka, Tomo Sawada, Takanobu Otomo, Torayuki Okuyama, Yasuyuki Suzuki, Norio Sakai, Hiromitsu Takakura, Toju Tanaka, Toya Ohashi, Mika IshigewadaAbstract:Abstract Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with Mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for Mucopolysaccharidosis I (MPS I) patients
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Mucopolysaccharidosis type iva morquio a disease clinical review and current treatment a special review
Current Pharmaceutical Biotechnology, 2011Co-Authors: Shunji Tomatsu, Adriana M Montano, Hirotaka Oikawa, Daniel Rowan, Mary Smith, Luis A Barrera, Yasutsugu Chinen, Mihir M Thacker, William G Mackenzie, Yasuyuki SuzukiAbstract:Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS), which catalyzes a step in the catabolism of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S). It leads to accumulation of the KS and C6S, mainly in bone and cornea, causing a systemic skeletal chondrodysplasia. MPS IVA has a variable age of onset and variable rate of progression. Common presenting features include elevation of urinary and blood KS, marked short stature, hypoplasia of the odontoid process, pectus carinatum, kyphoscoliosis, genu valgum, laxity of joints and corneal clouding; however there is no central nervous system impairment. Generally, MPS IVA patients with a severe form do not survive beyond the third decade of life whereas those patients with an attenuated form may survive over 70 years. There has been no effective therapy for MPS IVA, and care has been palliative. Enzyme replacement therapy (ERT) and hematopoietic stem cell therapy (HSCT) have emerged as a treatment for mucopolysaccharidoses disorders, including Morquio A disease. This review provides an overview of the clinical manifestations, diagnosis and symptomatic management of patients with MPS IVA and describes potential perspectives of ERT and HSCT. The issue of treating very young patients is also discussed.
Nicole Muschol - One of the best experts on this subject based on the ideXlab platform.
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scoring evaluation of the natural course of Mucopolysaccharidosis type iiia sanfilippo syndrome type a
Pediatrics, 2007Co-Authors: Ann Meyer, Kai Kossow, Chris Muhlhausen, K Ullrich, Thomas Braulke, Nicole MuscholAbstract:OBJECTIVE.Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The onset and severity of the disease are highly variable. The purpose of this study was to describe the natural course of Mucopolysaccharidosis type IIIA in a large cohort of patients. PATIENTS AND METHODS.The natural course of Mucopolysaccharidosis type IIIA was assessed in 71 patients by using a detailed questionnaire and a 4-point scoring system and compared with the course of the disease in 14 patients with Mucopolysaccharidosis type IIIB and 4 patients with Mucopolysaccharidosis type IIIC. RESULTS.In the cohort of patients with Mucopolysaccharidosis type IIIA, first symptoms of disease were observed, on average, at 7 months of age. Speech and motor development were delayed in 66.2% and 33.9% of patients, respectively. The median age at diagnosis was 4.5 years. The onset of regression in speech, motor, and cognitive function was observed at an average age of 3.3 years. The loss of all 3 of the assessed abilities was observed at an average age of 12.5 years. Speech was lost before motor and cognitive functions. In a small group of patients who were 12.5 years of age (9.9%), speech, motor, and cognitive skills were partially preserved up to a maximum age of 23.8 years. CONCLUSIONS.To our knowledge, this is the first systematic and comprehensive study on the natural course of Mucopolysaccharidosis type IIIA. The 4-point scoring system may be used to classify patients into groups with a rapid or slower course of the disease. This may have an important impact on parental counseling as well as therapeutic interventions.
Paul Harmatz - One of the best experts on this subject based on the ideXlab platform.
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efficacy and safety of enzyme replacement therapy with bmn 110 elosulfase alfa for morquio a syndrome Mucopolysaccharidosis iva a phase 3 randomised placebo controlled study
Journal of Inherited Metabolic Disease, 2014Co-Authors: Paul Harmatz, Christian J Hendriksz, Eugen Mengel, Barbara K Burton, Simon A Jones, Thomas R Fleming, Derralynn Hughes, Maurizio Scarpa, Vassili ValayannopoulosAbstract:Objective To assess the efficacy and safety of enzyme replacement therapy (ERT) with BMN 110 (elosulfase alfa) in patients with Morquio A syndrome (Mucopolysaccharidosis IVA).
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Growth charts for individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Molecular Genetics and Metabolism, 2014Co-Authors: Adrian Quartel, Sue Graham, Paul HarmatzAbstract:Background: The skeletal phenotype of Mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure.
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importance of surgical history in diagnosing Mucopolysaccharidosis type ii hunter syndrome data from the hunter outcome survey
Genetics in Medicine, 2010Co-Authors: Nancy J Mendelsohn, Paul Harmatz, Roberto Giugliani, Olaf Bodamer, Christina Lampe, Barbara K Burton, Simon A Jones, Gunilla Malm, Robert D Steiner, Rossella PariniAbstract:Importance of surgical history in diagnosing Mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey
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Mucopolysaccharidosis VI
Orphanet Journal of Rare Diseases, 2010Co-Authors: Vassili Valayannopoulos, Helen Nicely, Paul Harmatz, Sean TurbevilleAbstract:Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 microg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally
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recognition and diagnosis of Mucopolysaccharidosis ii hunter syndrome
Pediatrics, 2008Co-Authors: Rick A Martin, Paul Harmatz, Roberto Giugliani, Michael Beck, Veronica Munoz, Joseph MuenzerAbstract:Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of glycosaminoglycans. In patients with Mucopolysaccharidosis II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and symptoms of the disease. Mucopolysaccharidosis II affects multiple organs and physiologic systems and has a variable age of onset and variable rate of progression. Common presenting features include excess urinary glycosaminoglycan excretion, facial dysmorphism, organomegaly, joint stiffness and contractures, pulmonary dysfunction, myocardial enlargement and valvular dysfunction, and neurologic involvement. In patients with neurologic involvement, intelligence is impaired, and death usually occurs in the second decade of life, whereas those patients with minimal or no neurologic involvement may survive into adulthood with normal intellectual development. Enzyme replacement therapy has emerged as a new treatment for Mucopolysaccharidosis disorders, including Hunter syndrome. The purpose of this report is to provide a concise review of Mucopolysaccharidosis II for practitioners with the hope that such information will help identify affected boys earlier in the course of their disease.
Amy Fisher - One of the best experts on this subject based on the ideXlab platform.
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advances in the treatment of Mucopolysaccharidosis type i
The New England Journal of Medicine, 2004Co-Authors: Joseph Muenzer, Amy FisherAbstract:The mucopolysaccharidoses are a group of lysosomal storage diseases caused by a deficiency of enzymes that degrade glycosaminoglycans.1 Mucopolysaccharidosis type I, an autosomal recessive disorder...
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Advances in the treatment of Mucopolysaccharidosis type I.
The New England Journal of Medicine, 2004Co-Authors: Joseph Muenzer, Amy FisherAbstract:The mucopolysaccharidoses are a group of lysosomal storage diseases caused by a deficiency of enzymes that degrade glycosaminoglycans.1 Mucopolysaccharidosis type I, an autosomal recessive disorder caused by a deficiency of the enzyme α-L-iduronidase, is characterized by multisystemic clinical disease. The α-L-iduronidase deficiency leads to the progressive accumulation of glycosaminoglycans, resulting in tissue and organ dysfunction. A wide range of clinical presentations, with variations in the severity of symptoms and the extent of central nervous system involvement, is observed in patients with iduronidase deficiency. In 1919, a German pediatrician named Gertrud Hurler provided the first description of Mucopolysaccharidosis type I. Characteristics . . .
