Database : MEDLINE
Search on : Mucopolysaccharidosis and II [Words]
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[PMID]: 29210515
[Au] Autor:Ficicioglu C; Giugliani R; Harmatz P; Mendelsohn NJ; Jego V; Parini R
[Ad] Address:Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
[Ti] Title:Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
[So] Source:Am J Med Genet A;176(2):301-310, 2018 Feb.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data from patients enrolled in the Hunter Outcome Survey (HOS) were used to investigate intrafamilial variability in male siblings with MPS II. As of July 2015, data were available for 78 patients aged ≥5 years at last visit who had at least one affected sibling (39 sibling pairs). These patients were followed prospectively (i.e., they were alive at enrollment in HOS). The median age at the onset of signs and symptoms was the same for the elder and younger brothers (2.0 years); however, the younger brothers were typically diagnosed at a younger age than the elder brothers (median age, 2.5 and 5.1 years, respectively). Of the 39 pairs, eight pairs were classified as being discordant (the status of four or more signs and symptoms differed between the siblings); 21 pairs had one, two, or three signs and symptoms that differed between the siblings, and 10 pairs had none. Regression status of the majority of the developmental milestones studied was generally concordant among siblings. Functional classification, a measure of central nervous system involvement, was the same in 24/28 pairs, although four pairs were considered discordant as functional classification differed between the siblings. Overall, this analysis revealed similarity in the clinical manifestations of MPS II among siblings. This information should help to improve our understanding of the clinical presentation of the disease, including phenotype prediction in affected family members.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review
[do] DOI:10.1002/ajmg.a.38551

  2 / 1608 MEDLINE  
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[PMID]: 28464912
[Au] Autor:Muenzer J; Jones SA; Tylki-Szymanska A; Harmatz P; Mendelsohn NJ; Guffon N; Giugliani R; Burton BK; Scarpa M; Beck M; Jangelind Y; Hernberg-Stahl E; Larsen MP; Pulles T; Whiteman DAH
[Ad] Address:Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[Ti] Title:Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
[So] Source:Orphanet J Rare Dis;12(1):82, 2017 May 02.
[Is] ISSN:1750-1172
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. Individuals with a confirmed diagnosis of MPS II who are untreated or who are receiving/have received treatment with idursulfase or bone marrow transplant can be enrolled in HOS. A broad range of disease- and treatment-related information is captured in the registry and, over the past decade, data from more than 1000 patients from 124 clinics in 29 countries have been collected. Evidence generated from HOS has helped to improve our understanding of disease progression in both treated and untreated patients and has extended findings from the formal clinical trials of idursulfase. As a long-term, global, observational registry, various challenges relating to data collection, entry, and analysis have been encountered. These have resulted in changes to the HOS database platform, and novel approaches to maximize the value of the information collected will also be needed in the future. The continued evolution of the registry should help to ensure that HOS provides further insights into the burden of the disease and patient care and management in the coming years.
[Mh] MeSH terms primary: Enzyme Replacement Therapy
Iduronate Sulfatase/therapeutic use
Mucopolysaccharidosis II/drug therapy
Registries/statistics & numerical data
[Mh] MeSH terms secundary: Databases, Factual
Enzyme Replacement Therapy/standards
Humans
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:EC 3.1.6.13 (Iduronate Sulfatase); EC 3.1.6.13 (idursulfase)
[Em] Entry month:1802
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[Js] Journal subset:IM
[Da] Date of entry for processing:170504
[St] Status:MEDLINE
[do] DOI:10.1186/s13023-017-0635-z

  3 / 1608 MEDLINE  
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[PMID]: 29289480
[Au] Autor:Hoshina H; Shimada Y; Higuchi T; Kobayashi H; Ida H; Ohashi T
[Ad] Address:Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo 105-8461, Japan; Department of Pediatrics, The Jikei University School of Medicine, Tokyo 105-8461, Japan.
[Ti] Title:Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II.
[So] Source:Mol Genet Metab;123(2):118-122, 2018 Feb.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Small molecules called pharmacological chaperones have been shown to improve the stability, intracellular localization, and function of mutated enzymes in several lysosomal storage diseases, and proposed as promising therapeutic agents for them. However, a chaperone compound for mucopolysaccharidosis type II (MPS II), which is an X-linked lysosomal storage disorder characterized by a deficiency of iduronate-2-sulfatase (IDS) and the accumulation of glycosaminoglycans (GAGs), has still not been developed. Here we focused on the Δ-unsaturated 2-sulfouronic acid-N-sulfoglucosamine (D2S0), which is a sulfated disaccharide derived from heparin, as a candidate compound for a pharmacological chaperone for MPS II, and analyzed the chaperone effect of the saccharide on IDS by using recombinant protein and cells expressing mutated enzyme. When D2S0 was incubated with recombinant human IDS (rhIDS) in vitro, the disaccharide attenuated the thermal degeneration of the enzyme. This effect of D2S0 on the thermal degeneration of rhIDS was enhanced in a dose-dependent manner. D2S0 also increased the residual activity of mutant IDS in patient fibroblasts. Furthermore, D2S0 improved the enzyme activity of IDS mutants derived from six out of seven different mutations in HEK293T cells transiently expressing them. These results indicate that D2S0 is a potential pharmacological chaperone for MPS II.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180211
[Lr] Last revision date:180211
[St] Status:In-Data-Review

  4 / 1608 MEDLINE  
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[PMID]: 29198891
[Au] Autor:Shapiro E; Ahmed A; Whitley C; Delaney K
[Ad] Address:Department of Pediatrics, University of Minnesota, United States. Electronic address: shapi004@umn.edu.
[Ti] Title:Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series.
[So] Source:Mol Genet Metab;123(2):123-126, 2018 Feb.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:This follow-up study of a subgroup of the patients seen in a natural history study of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A) addressed the adaptive and medical characteristics of their advanced disease manifestations. Of the original 24 patients, specific data was collected on only 58% primarily due to difficulty in locating families and coordinating time for interviews two to four years after the original study. At the last contact with the patient, age range was 8 to 24years of age. Data were collected from telephone interviews from the Vineland Adaptive Behavior Scales II and medical and treatment history. We report the case data from rapid progressing and slow progressing patients separately. By the end of our data collection, 5 patients had died; 4 rapid progressing patients between 8 and 12years of age and 1 slow progressing patient at age 21. Two patients were in out-of-home placements in the year before they died. We found that the incidence of surgeries and epilepsy was relatively low and that behavior problems largely subsided. Adaptive levels were very low with children functioning at below a two-year age equivalent level in all adaptive functions, but motor skills were slightly more intact. Only one slow progressing patient was functioning above a three-year level. Parent burden had shifted from behavioral control to physical management. Although their quality of life was clearly negatively impacted by physical management and palliative care, parents were more able to cope and adapt to such demands than in the initial stages of the disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180211
[Lr] Last revision date:180211
[St] Status:In-Data-Review

  5 / 1608 MEDLINE  
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[PMID]: 29318258
[Au] Autor:Abbasi J
[Ti] Title:Clinical Advances in Human Gene Therapies.
[So] Source:JAMA;319(2):113, 2018 Jan 09.
[Is] ISSN:1538-3598
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Epidermolysis Bullosa, Junctional/therapy
Gene Editing
Genetic Therapy
Mucopolysaccharidosis II/therapy
Skin Transplantation
[Mh] MeSH terms secundary: Child
Genetic Vectors
Humans
Male
Mucopolysaccharidosis II/genetics
Stem Cell Transplantation
[Pt] Publication type:NEWS
[Em] Entry month:1801
[Cu] Class update date: 180123
[Lr] Last revision date:180123
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180111
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.20692

  6 / 1608 MEDLINE  
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[PMID]: 29314214
[Au] Autor:Torres RO; Pintor AVB; Guedes FR; Freitas-Fernandes LB; Barth AL; Horovitz DDG; de Souza IPR
[Ad] Address:Department of Pediatric Dentistry and Orthodontics, Universidade Federal do Rio de Janeiro, Brazil.
[Ti] Title:Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report.
[So] Source:Spec Care Dentist;, 2018 Jan 04.
[Is] ISSN:1754-4505
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We described herein the oral and craniofacial features of a 7-year-old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HSCT) at 70 days of age. The main oral clinical findings were the following: macroglossia, posterior cross-bite, crowding, pointed cuspid teeth, delayed tooth eruption, retained primary teeth, and enamel hypoplasia. The image examination showed: retention eruption, posterior primary teeth with short roots, absence of some permanent teeth, and stretching of the stylohyoid processes bilaterally. This patient showed the importance of early diagnosis and HSCT therapy in attenuating the clinical and radiographic oral and craniofacial manifestations of the MPS II patient.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180109
[Lr] Last revision date:180109
[St] Status:Publisher
[do] DOI:10.1111/scd.12260

  7 / 1608 MEDLINE  
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[PMID]: 29210605
[Au] Autor:Crowe L; Yaplito-Lee J; Anderson V; Peters H
[Ad] Address:a Clinical Sciences , Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne , VIC , Australia.
[Ti] Title:Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II.
[So] Source:Cogn Neuropsychol;34(6):347-356, 2017 Sep.
[Is] ISSN:1464-0627
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome is a rare X-linked condition, due to a defect in a lysosomal enzyme involved in the breakdown of glycosaminoglycans. It is a progressive condition with worsening over time; however, symptom severity and progression rates vary. Normal intellectual function has been reported in males with mild MPS II but few studies are available that provide comprehensive cognitive profiles. Enzyme replacement therapy (ERT) can stabilize physical symptoms and has become standard treatment. Whether ERT can influence cognition is currently unknown. Considering this, we conducted cognitive, fine motor, and behavioural assessments with three males (7;6-12;1 years) with mild MPS II before and after ERT. Generally, cognition, fine motor skills, and behaviour were in the normal range; however, specific deficits in attention and executive function were identified. Following ERT, some memory improvements were seen. Executive deficits remained, and processing speed declined over time.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171206
[Lr] Last revision date:171206
[St] Status:In-Process
[do] DOI:10.1080/02643294.2017.1401530

  8 / 1608 MEDLINE  
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[PMID]: 28451919
[Au] Autor:Lau AA; King BM; Thorsen CL; Hassiotis S; Beard H; Trim PJ; Whyte LS; Tamang SJ; Duplock SK; Snel MF; Hopwood JJ; Hemsley KM
[Ad] Address:Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia. adeline.lau@sahmri.com.
[Ti] Title:A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
[So] Source:J Inherit Metab Dis;40(5):715-724, 2017 Sep.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidosis (MPS) type IIIA, or Sanfilippo syndrome, is a neurodegenerative lysosomal storage disorder caused by a deficiency of the lysosomal enzyme N-sulfoglucosamine sulfohydrolase (SGSH), involved in the catabolism of heparan sulfate. The clinical spectrum is broad and the age of symptom onset and the degree of preservation of cognitive and motor functions appears greatly influenced by genotype. To explore this further, we generated a conditional knockout (Sgsh ) mouse model with ubiquitous Sgsh deletion, and compared the clinical and pathological phenotype with that of the spontaneous Sgsh MPS-IIIA mouse model. Phenotypic deficits were noted in Sgsh mice prior to Sgsh mice, however these outcomes did not correlate with any shift in the time of appearance nor rate of accumulation of primary (heparan sulfate) or secondary substrates (GM2/GM3 gangliosides). Other disease lesions (elevations in lysosomal integral membrane protein-II expression, reactive astrocytosis and appearance of ubiquitin-positive inclusions) were also comparable between affected mouse strains. This suggests that gross substrate storage and these neuropathological markers are neither primary determinants, nor good biomarkers/indicators of symptom generation, confirming similar observations made recently in MPS-IIIA patients. The Sgsh mouse will be a useful tool for elucidation of the neurological basis of disease and assessment of the clinical efficacy of new treatments for Sanfilippo syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 171130
[Lr] Last revision date:171130
[St] Status:In-Process
[do] DOI:10.1007/s10545-017-0044-4

  9 / 1608 MEDLINE  
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[PMID]: 29170079
[Au] Autor:Escolar ML; Jones SA; Shapiro EG; Horovitz DDG; Lampe C; Amartino H
[Ad] Address:Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Electronic address: maria.escolar@chp.edu.
[Ti] Title:Practical management of behavioral problems in mucopolysaccharidoses disorders.
[So] Source:Mol Genet Metab;, 2017 Sep 27.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. Excessive GAG storage can lead to a variety of somatic manifestations as well as primary and secondary neurological symptoms. Behavioral problems (like hyperactivity, attention difficulties, and severe frustration) and sleeping problems are typical primary neurological symptoms of MPS caused by GAG accumulation in neurons, and are frequently observed in patients with MPS I, II, III, and VII. As these problems often place a significant burden on the family, proper management is important. This review summarizes current insights into behavioral and sleeping problems in MPS disorders and the most optimal management approaches, as presented and discussed during a meeting of an international group of experts with extensive experience in managing and treating MPS.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171124
[Lr] Last revision date:171124
[St] Status:Publisher

  10 / 1608 MEDLINE  
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[PMID]: 29168031
[Au] Autor:Rybová J; Ledvinová J; Sikora J; Kuchar L; Dobrovolný R
[Ad] Address:Rare Diseases Research Unit, Department of Pediatrics and Adolescent Medicine, Charles University, Ke Karlovu 2, Prague, 12808, Czech Republic.
[Ti] Title:Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.
[So] Source:J Inherit Metab Dis;, 2017 Nov 22.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28). MPSII is characterized by skeletal deformities, hearing loss, airway obstruction, hepatosplenomegaly, cardiac valvular disease, and progressive neurological impairment. At the cellular level, IDS deficiency leads to lysosomal storage of glycosaminoglycans (GAGs), dominated by accumulation of dermatan and heparan sulfates. Human induced pluripotent stem cells (iPSC) represent an alternative system that complements the available MPSII murine model. Herein we report on the reprogramming of peripheral white blood cells from male and female MPSII patients into iPSC using a non-integrating protocol based on the Sendai virus vector system. We differentiated the iPSC lines into IDS deficient and GAG accumulating ß-Tubulin III neurons, GFAP astrocytes, and CNPase oligodendrocytes. The lysosomal system in these cells displayed structural abnormalities reminiscent of those previously found in patient tissues and murine IDS deficient neuronal stem cells. Furthermore, quantitative determination of GAGs revealed a moderate increase in GAG levels in IDS deficient neurons and glia. We also tested the effects of recombinant IDS and found that the exogenous enzyme was internalized from the culture media and partially decreased the intracellular GAG levels in iPSC-derived neural cells; however, it failed to completely prevent accumulation of GAGs. In summary, we demonstrate that this human iPSC based model expresses the cellular and biochemical features of MPSII, and thus represents a useful experimental tool for further pathogenesis studies as well as therapy development and testing.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171123
[Lr] Last revision date:171123
[St] Status:Publisher
[do] DOI:10.1007/s10545-017-0108-5


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