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[PMID]: 29478819
[Au] Autor:Harmatz P; Whitley CB; Wang RY; Bauer M; Song W; Haller C; Kakkis E
[Ad] Address:UCSF Benioff Children's Hospital Oakland, Oakland, CA, United States. Electronic address: Pharmatz@mail.cho.org.
[Ti] Title:A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.
[So] Source:Mol Genet Metab;, 2018 Feb 12.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Drug development for ultra-rare diseases is challenging because small sample sizes and heterogeneous study populations hamper the ability of randomized, placebo-controlled trials with a single primary endpoint to demonstrate valid treatment effects. METHODS: To overcome these challenges, a novel Blind Start design was utilized in a study of vestronidase alfa in mucopolysaccharidosis VII (Sly syndrome), an ultra-rare lysosomal disease, that demonstrates the strengths of this approach in a challenging drug-development setting. Twelve subjects were randomized to 1 of 4 blinded groups, each crossing over to active treatment in a blinded fashion at different timepoints with efficacy analysis comparing the last assessment before cross over to after 24 weeks of treatment. Study assessments included: Percentage change from baseline in urinary GAG (uGAG); a Multi-Domain Responder Index (MDRI) using prespecified minimal important differences (6-Minute Walk Test, Forced Vital Capacity, shoulder flexion, visual acuity, and Bruininks-Oseretsky Test of Motor Proficiency); fatigue as assessed by the Pediatric Quality of Life Inventory™ Multidimensional Fatigue Scale; and safety. RESULTS: Vestronidase alfa treatment for 24 weeks significantly reduced uGAG excretion (dermatan sulfate: 64.8%, p < 0.0001). Most subjects (10/12) had a clinically meaningful improvement in at least one MDRI domain with an overall mean change (SD) of +0.5 (0.8) at Treatment Week 24 (p = 0.0527). Exposure-adjusted incidence rates of adverse events were similar between groups. CONCLUSIONS: The Blind Start study and MDRI design improve statistical power that enhances detection of a positive treatment effect in this rare heterogeneous disease and could be utilized for other ultra-rare diseases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:Publisher

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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

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[PMID]: 29153844
[Au] Autor:Scarpa M; Orchard PJ; Schulz A; Dickson PI; Haskins ME; Escolar ML; Giugliani R
[Ad] Address:Department of Paediatric and Adolescent Medicine, Helios Dr. Horst Schmidt Kliniken, Center for Rare Diseases, Wiesbaden, Germany; Department of Women's and Children's Health, University of Padova, Padova, Italy. Electronic address: Maurizio.Scarpa@helios-kliniken.de.
[Ti] Title:Treatment of brain disease in the mucopolysaccharidoses.
[So] Source:Mol Genet Metab;, 2017 Oct 16.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. These disorders are characterized by their progressive nature and a variety of somatic manifestations and neurological symptoms. There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease. Patients with MPS I, II, III, and VII can present with neurological manifestations such as neurocognitive decline and behavioral problems. Treatment of these neurological manifestations remains challenging due to the blood-brain barrier (BBB) that limits delivery of therapeutic agents to the central nervous system (CNS). New therapies that circumvent this barrier and target brain disease in MPS are currently under development. They primarily focus on facilitating penetration of drugs through the BBB, delivery of recombinant enzyme to the brain by gene therapy, or direct CNS administration. This review summarizes existing and potential future treatment approaches that target brain disease in MPS. The information in this review is based on current literature and presentations and discussions during a closed meeting by 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: 171120
[Lr] Last revision date:171120
[St] Status:Publisher

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[PMID]: 28770119
[Au] Autor:Kadhim H; Segers V; Vilain C; Dsir J; D'Haene N
[Ad] Address:Neuropathology Unit, Department of Anatomic Pathology and Reference Center for Neuromuscular Pathology, Brugmann University Hospital-Children's Hospital (CHU Brugmann-HUDERF), Universit Libre de Bruxelles (ULB), Brussels, Belgium.
[Ti] Title:First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.
[So] Source:Case Rep Pediatr;2017:9523427, 2017.
[Is] ISSN:2090-6803
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the gene in the mother. Fetal/neonatal metabolic disorders with PGB-deposition are extremely rare (particularly in relation to CNS involvement) and include almost exclusively subtypes of glycogenosis (types IV and VII). The accumulation of PGBs (particularly in the ) has so far been depicted in Sly disease. This is the first report on such "aberrant" association. Besides, the detection of these CNS inclusions at such an early developmental stage is remarkably unique.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170806
[Lr] Last revision date:170806
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1155/2017/9523427

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[PMID]: 28734840
[Au] Autor:Fratz-Berilla EJ; Ketcham SA; Parhiz H; Ashraf M; Madhavarao CN
[Ad] Address:Division of Product Quality Research, Office of Pharmaceutical Quality, Center for Drug Evaluation and Research, Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD 20993, USA.
[Ti] Title:An improved purification method for the lysosomal storage disease protein -glucuronidase produced in CHO cells.
[So] Source:Protein Expr Purif;140:28-35, 2017 Dec.
[Is] ISSN:1096-0279
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Human -glucuronidase (GUS; EC 3.2.1.31) is a lysosomal enzyme that catalyzes the hydrolysis of -d-glucuronic acid residues from the non-reducing termini of glycosaminoglycans. Impairment in GUS function leads to the metabolic disorder mucopolysaccharidosis type VII, also known as Sly syndrome. We produced GUS from a CHO cell line grown in suspension in a 15L perfused bioreactor and developed a three step purification procedure that yields ∼99% pure enzyme with a recovery of more than 40%. The method can be completed in two days and has the potential to be integrated into a continuous manufacturing scheme.
[Mh] MeSH terms primary: Glucuronidase/biosynthesis
Glucuronidase/isolation & purification
Lysosomal Storage Diseases/enzymology
[Mh] MeSH terms secundary: Animals
CHO Cells/enzymology
Cricetulus
Glucuronidase/chemistry
Humans
Lysosomal Storage Diseases/pathology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:EC 3.2.1.31 (Glucuronidase)
[Em] Entry month:1710
[Cu] Class update date: 171026
[Lr] Last revision date:171026
[Js] Journal subset:IM
[Da] Date of entry for processing:170724
[St] Status:MEDLINE

  6 / 415 MEDLINE  
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[PMID]: 28702876
[Au] Autor:Lew V; Pena L; Edwards R; Wang RY
[Ad] Address:UC Riverside School of Medicine, Riverside, CA, 92521, USA.
[Ti] Title:Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis.
[So] Source:JIMD Rep;, 2017 Jul 13.
[Is] ISSN:2192-8304
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidosis type VII (MPS VII) is caused by -glucuronidase deficiency, resulting in lysosomal accumulation of glycosaminoglycans (GAGs) and multisystemic disease. We present cardiovascular gross and histopathology findings from a 11-year-old MPS VII male, who expired after developing ventricular fibrillation following anesthesia induction. Gross anatomic observations were made at autopsy; postmortem formalin-fixed paraffin-embedded samples of the carotid artery, aorta, myocardium, and valves were sectioned and stained with hematoxylin-eosin, Verhoeff-Van Gieson, CD68, and trichrome stains. Gross heart findings include an enlarged, dilated heart, mitral valve prolapse with thick, shortened chordae tendinae, and thickened aortic valve cusps. The aorta contained raised intimal plaques mimicking conventional atherosclerosis. Cardiac myocytes included hypertrophic nuclei, subendocardial fibrosis, and increased interfascicular collagen. Coronary lumens were 40-70% stenosed by fibrointimal hyperplasia containing storage material-laden cells, CD68 macrophages, and fragmented elastin laminae. Similar findings were visualized in aortic intimal plaques. We confirm that arterial plaques, elastin fragmentation, and activated CD68 macrophage infiltration occur in human MPS VII, consistent with previously observed findings in murine and canine MPS VII. We also confirm ultrasonographically observed carotid intimal-medial thickening is an in vivo correlate of histopathologic vascular fibrointimal hyperplasia. MPS VII patients should be regularly monitored for cardiac disease, with methods such as Holter monitors and stress testing; MPS VII-directed treatments should effectively address cardiovascular disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170713
[Lr] Last revision date:170713
[St] Status:Publisher
[do] DOI:10.1007/8904_2017_43

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[PMID]: 28581485
[Au] Autor:Wu L; Jiang J; Jin Y; Kallemeijn WW; Kuo CL; Artola M; Dai W; van Elk C; van Eijk M; van der Marel GA; Code JDC; Florea BI; Aerts JMFG; Overkleeft HS; Davies GJ
[Ad] Address:York Structural Biology Laboratory, Department of Chemistry, University of York, Heslington, York, UK.
[Ti] Title:Activity-based probes for functional interrogation of retaining -glucuronidases.
[So] Source:Nat Chem Biol;13(8):867-873, 2017 Aug.
[Is] ISSN:1552-4469
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Humans express at least two distinct -glucuronidase enzymes that are involved in disease: exo-acting -glucuronidase (GUSB), whose deficiency gives rise to mucopolysaccharidosis type VII, and endo-acting heparanase (HPSE), whose overexpression is implicated in inflammation and cancers. The medical importance of these enzymes necessitates reliable methods to assay their activities in tissues. Herein, we present a set of -glucuronidase-specific activity-based probes (ABPs) that allow rapid and quantitative visualization of GUSB and HPSE in biological samples, providing a powerful tool for dissecting their activities in normal and disease states. Unexpectedly, we find that the supposedly inactive HPSE proenzyme proHPSE is also labeled by our ABPs, leading to surprising insights regarding structural relationships between proHPSE, mature HPSE, and their bacterial homologs. Our results demonstrate the application of -glucuronidase ABPs in tracking pathologically relevant enzymes and provide a case study of how ABP-driven approaches can lead to discovery of unanticipated structural and biochemical functionality.
[Mh] MeSH terms primary: Enzyme Inhibitors/pharmacology
Fluorescent Dyes/pharmacology
Glucuronidase/metabolism
[Mh] MeSH terms secundary: Enzyme Inhibitors/chemical synthesis
Enzyme Inhibitors/chemistry
Fluorescent Dyes/chemical synthesis
Fluorescent Dyes/chemistry
HEK293 Cells
Humans
Molecular Structure
Structure-Activity Relationship
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Enzyme Inhibitors); 0 (Fluorescent Dyes); EC 3.2.1.31 (Glucuronidase)
[Em] Entry month:1709
[Cu] Class update date: 170912
[Lr] Last revision date:170912
[Js] Journal subset:IM
[Da] Date of entry for processing:170606
[St] Status:MEDLINE
[do] DOI:10.1038/nchembio.2395

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[PMID]: 28530135
[Au] Autor:Aronovich EL; Hyland KA; Hall BC; Bell JB; Olson ER; Rusten MU; Hunter DW; Ellinwood NM; McIvor RS; Hackett PB
[Ad] Address:1 Department of Genetics, Cell Biology and Development and Center for Genome Engineering, University of Minnesota , Minneapolis, Minnesota.
[Ti] Title:Prolonged Expression of Secreted Enzymes in Dogs After Liver-Directed Delivery of Sleeping Beauty Transposons: Implications for Non-Viral Gene Therapy of Systemic Disease.
[So] Source:Hum Gene Ther;28(7):551-564, 2017 Jul.
[Is] ISSN:1557-7422
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The non-viral, integrating Sleeping Beauty (SB) transposon system is efficient in treating systemic monogenic disease in mice, including hemophilia A and B caused by deficiency of blood clotting factors and mucopolysaccharidosis types I and VII caused by α-L-iduronidase (IDUA) and -glucuronidase (GUSB) deficiency, respectively. Modified approaches of the hydrodynamics-based procedure to deliver transposons to the liver in dogs were recently reported. Using the transgenic canine reporter secreted alkaline phosphatase (cSEAP), transgenic protein in the plasma was demonstrated for up to 6 weeks post infusion. This study reports that immunosuppression of dogs with gadolinium chloride (GdCl ) prolonged the presence of cSEAP in the circulation up to 5.5 months after a single vector infusion. Transgene expression declined gradually but appeared to stabilize after about 2 months at approximately fourfold baseline level. Durability of transgenic protein expression in the plasma was inversely associated with transient increase of liver enzymes alanine transaminase and aspartate transaminase in response to the plasmid delivery procedure, which suggests a deleterious effect of hepatocellular toxicity on transgene expression. GdCl treatment was ineffective for repeat vector infusions. In parallel studies, dogs were infused with potentially therapeutic transposons. Activities of transgenic IDUA and GUSB in plasma peaked at 50-350% of wildtype, but in the absence of immunosuppression lasted only a few days. Transposition was detectable by excision assay only when the most efficient transposase, SB100X, was used. Dogs infused with transposons encoding canine clotting factor IX (cFIX) were treated with GdCl and showed expression profiles similar to those in cSEAP-infused dogs, with expression peaking at 40% wt (2 g/mL). It is concluded that GdCl can support extended transgene expression after hydrodynamic introduction of SB transposons in dogs, but that alternative regimens will be required to achieve therapeutic levels of transgene products.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170813
[Lr] Last revision date:170813
[St] Status:In-Process
[do] DOI:10.1089/hum.2017.004

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[PMID]: 28524215
[Au] Autor:Gutierrez-Solana LG
[Ad] Address:Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
[Ti] Title:Terapias novedosas en enfermedades neurometabolicas: importancia de una intervencion precoz. [Novel therapies in neurometabolic diseases: the importance of early intervention].
[So] Source:Rev Neurol;64(s03):S25-S28, 2017 May 17.
[Is] ISSN:1576-6578
[Cp] Country of publication:Spain
[La] Language:spa
[Ab] Abstract:INTRODUCTION: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment. DEVELOPMENT: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. In recent years the use of enzyme replacement therapy has become more widely extended to treat mucopolysaccharidosis type IVA (Morquio A), mucopolysaccharidosis type VII (Sly syndrome), lysosomal acid lipase deficiency and alpha-mannosidosis. It has been proven that very early treatment of mucopolysaccharidoses can change their natural course. Intrathecal enzyme replacement therapy is being tried in some mucopolysaccharidoses with cognitive involvement, in an attempt to halt neurodegeneration. Very positive results have been obtained with genetically modified autotransplants in late-onset infantile metachromatic leukodystrophy and research is being conducted on other pathologies (mucopolysaccharidosis type III, X-linked adrenoleukodystrophy). Novel outcomes are also being achieved in the treatment of some encephalopathies that are sensitive to vitamins or cofactors: triple therapy in pyridoxine dependency, treatment with thiamine for some subacute encephalopathies with involvement of the basal ganglia, treatment with folinic acid for children with cerebral folate deficiency, or treatment with cyclic pyranopterin monophosphate in molybdenum cofactor deficiency type A. CONCLUSIONS: As neuropaediatricians we must update our knowledge, especially in the case of treatable neurometabolic pathologies, since early treatment can change their prognosis significantly.
[Pt] Publication type:CLINICAL CONFERENCE; ENGLISH ABSTRACT
[Em] Entry month:1705
[Cu] Class update date: 170519
[Lr] Last revision date:170519
[St] Status:In-Process

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[PMID]: 28489793
[Au] Autor:Coln C; Alvarez JV; Castao C; Gutierrez-Solana LG; Marquez AM; O'Callaghan M; Snchez-Valverde F; Yeste C; Couce ML
[Ad] Address:aUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of Pediatrics, Hospital Clnico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela bService of Pediatrics, Hospital Universitario Infanta Leonor cSection of Pediatric Neurology, Service of Pediatrics, Hospital Infantil Universitario Nio Jess, CIBERER, Madrid dUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Pediatrics Gastroenterology, Department of Pediatrics, Hospital Materno Infantil de Badajoz eDepartment of Neuropaediatrics, Hospital Sant Joan de Du, Esplugues, Barcelona fGastroenterology and Paediatric Nutrition Unit, Hospital Virgen del Camino, Pamplona gDepartment of Pediatrics, Hospital Costa del Sol de Marbella, Spain.
[Ti] Title:A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.
[So] Source:Medicine (Baltimore);96(19):e6887, 2017 May.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The mucopolysaccharidoses (MPSs) are underdiagnosed but they are evaluated in few newborn screening programs, probably due to the many challenges remaining, such as the identification of late-onset phenotypes. Systematic screening at the onset of clinical symptoms could help to early identify patients who may benefit from specific treatments. The aim of this prospective study was to assess a novel selective screening program, the FIND project, targeting patients aged 0 to 16 years with clinical manifestations of MPS. The project was designed to increase awareness of these diseases among pediatricians and allow early diagnosis.From July 2014 to June 2016, glycosaminoglycan (GAG) levels normalized to creatinine levels were determined in urine-impregnated analytical paper submitted by pediatricians who had patients with clinical signs and/or symptoms compatible with MPS. When high GAG concentrations were detected, a new liquid urine sample was requested to confirm and identify the GAG present. When a specific form of MPS was suspected, enzyme activity was analyzed using blood-impregnated paper to determine MPS type (I, IIIB, IIIC, IVA, IVB, VI, or VII). Age-specific reference values for GAG were previously established using 145 urine samples from healthy children.GAG levels were normal in 147 (81.7%) of the 180 initial samples received. A liquid sample was requested for the other 33 cases (18.3%); GAG levels were normal in 13 of these and slightly elevated in 12, although the electrophoresis study showed no evidence of MPS. Elevated levels with corresponding low enzymatic activity were confirmed in 8 cases. The mean time from onset of clinical symptoms to detection of MPS was 22 months, and just 2 cases were detected at the beginning of the project were detected with 35 and 71 months of evolution of clinical symptoms. Our screening strategy for MPS had a sensitivity of 100%, a specificity of 85%, and a positive predictive value of 24%.The FIND project is a useful and cost-effective screening method for increasing awareness of MPS among pediatricians and enabling the detection of MPS at onset of clinical symptoms.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170518
[Lr] Last revision date:170518
[St] Status:In-Process
[do] DOI:10.1097/MD.0000000000006887


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