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Elina Makino, Helen Klodnitsky, John Leonard, James Lillie, Troy C Lund, John Marshall, Jennifer Nietupski, Paul J Orchard, Weston P Miller, Clifford Phaneuf, Drew Tietz, Mariet L Varban, Marissa Donovan, Alexey Belenki
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
March 19, 2018: Scientific Reports
Yuki Izumi, Tsunenori Saito, Shigeru Sato, Wataru Shimizu
No abstract text is available yet for this article.
March 15, 2018: European Heart Journal
Kazuchika Suzuki, Hiroaki Sakai, Kenji Takahashi
We herein report anesthetic management during aortic valve replacement for aortic valve regurgitation in a patient with adult mucopolysaccharidosis type II (MPS type 2) (Hunter syndrome). This disorder is rare and related to the accumulation of a mucopolysaccharide in lysosomes. It affects various organs, including the airways, heart, and central nerves. In children with MPS type 2, the risk of airway obstruction during anesthesia/sedation is high, and the degree of difficulty increases with aging. The patient described herein was a 33-year-old male without mental retardation...
2018: JA Clin Rep
Christian Hendriksz, Saikat Santra, Simon A Jones, Tarekegn Geberhiwot, Lynne Jesaitis, Brian Long, Yulan Qi, Sara M Hawley, Celeste Decker
Elosulfase alfa is an enzyme replacement therapy for Morquio A syndrome (mucopolysaccharidosis IVA), a multisystemic progressive lysosomal storage disorder. This report includes the primary treatment outcomes and immunogenicity profile of elosulfase alfa in patients with Morquio A syndrome from 2 sequential studies, MOR-002 (ClinicalTrials.govNCT00884949) and MOR-100 (NCT01242111), representing >5 years of clinical study data. MOR-002 was an open-label, single-arm phase 1/2 study that evaluated the pharmacokinetics, safety, immunogenicity, and preliminary efficacy of 3 sequential doses of elosulfase alfa (0...
February 19, 2018: Molecular Genetics and Metabolism
Adeline A Lau, Sarah J Tamang, Kim M Hemsley
Mucopolysaccharidosis (MPS) type IIIA is an inherited, neurodegenerative lysosomal storage disorder resulting from mutations in the SGSH gene. Consequently, N-sulphoglucosamine sulphohydrolase enzyme activity is reduced resulting in impaired catabolism of heparan sulphate. After an asymptomatic period, patients typically show a progressive loss of cognitive and motor skills, with death often during the second decade of life. The diagnostic criteria of autism spectrum disorders (ASD) include impaired communication and social interactions, as well as displays of repetitive behaviours and fixed interests...
March 8, 2018: Journal of Inherited Metabolic Disease
Julie B Eisengart, Kyle D Rudser, Yong Xue, Paul Orchard, Weston Miller, Troy Lund, Ans Van der Ploeg, Jean Mercer, Simon Jones, Karl Eugen Mengel, Seyfullah Gökce, Nathalie Guffon, Roberto Giugliani, Carolina F M de Souza, Elsa G Shapiro, Chester B Whitley
PurposeEarly treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate the blood-brain barrier (BBB) support recommendations that hematopoietic cell transplantation (HCT) treat the severe, neurodegenerative form (Hurler syndrome). Ethics precludes randomized comparison of ERT with HCT, but insight into this comparison is presented with an international cohort of patients with Hurler syndrome who received long-term ERT from a young age...
March 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Yonghong Chen, Shujuan Zheng, Luis Tecedor, Beverly L Davidson
Sulfamidase (SGSH) deficiency causes mucopolysaccharidosis type IIIA (MPS IIIA), a lysosomal storage disease (LSD) that affects the CNS. In earlier work in LSD mice and dog models, we exploited the utility of adeno-associated viruses (AAVs) to transduce brain ventricular lining cells (ependyma) for secretion of lysosomal hydrolases into the cerebrospinal fluid (CSF), with subsequent distribution of enzyme throughout the brain resulting in improved cognition and extending lifespan. A critical feature of this approach is efficient secretion of the expressed enzyme from transduced cells, for delivery by CSF to nontransduced cells...
January 31, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
Elina Makino, Helen Klodnitsky, John Leonard, James Lillie, Troy C Lund, John Marshall, Jennifer Nietupski, Paul J Orchard, Weston P Miller, Clifford Phaneuf, Drew Tietz, Mariet L Varban, Marissa Donovan, Alexey Belenki
Certain recessively inherited diseases result from an enzyme deficiency within lysosomes. In mucopolysaccharidoses (MPS), a defect in glycosaminoglycan (GAG) degradation leads to GAG accumulation followed by progressive organ and multiple system dysfunctions. Current methods of GAG analysis used to diagnose and monitor the diseases lack sensitivity and throughput. Here we report a LC-MS method with accurate metabolite mass analysis for identifying and quantifying biomarkers for MPS type I without the need for extensive sample preparation...
February 27, 2018: Scientific Reports
Paul Harmatz, Chester B Whitley, Raymond Y Wang, Mislen Bauer, Wenjie Song, Christine Haller, Emil Kakkis
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...
February 12, 2018: Molecular Genetics and Metabolism
Kyoko Nagao, Thierry Morlet, Elizabeth Haley, Jennifer Padilla, Julianne Nemith, Robert W Mason, Shunji Tomatsu
BACKGROUND: Hearing impairment is a common problem in patients with mucopolysaccharidosis IV (MPS IV) throughout their life. Many of the adult patients with MPS IV exhibit permanent or severe hearing loss. However, there has been no systematic review of detailed audiological test results in MPS IV. MATERIALS AND METHODS: Fourteen individuals with MPS IV (13 MPS IVA and 1 MPS IVB; aged between 12 and 38 years old) participated in the current study. We obtained auditory neurophysiological responses (auditory brainstem responses and otoacoustic emissions test) in addition to pure-tone audiometry and middle ear function tests (tympanometry and acoustic reflexes)...
February 8, 2018: Molecular Genetics and Metabolism
Heather G Mack, R C Andrew Symons, Gerard de Jong
Purpose: To report retinal findings in two patients with mucopolysaccharidosis type I (MPS I) receiving human recombinant alpha-l-iduronidase (Laronidase) as enzyme replacement therapy. Observations: Patient 1 had visual acuity 20/20 right eye, 20/25 left eye and unremarkable anterior segment and retinal examination. Optical coherence tomography (OCT) scanning demonstrated parafoveal thinning and subfoveal hyperreflectant material. Patient 2 had visual acuity 20/20 both eyes, with dense nuclear cataract both eyes...
March 2018: American Journal of Ophthalmology Case Reports
William M Pardridge, Ruben J Boado, Roberto Giugliani, Mathias Schmidt
BACKGROUND: Mucopolysaccharidosis type I (MPSI) is caused by mutations in the gene encoding the α-L-iduronidase (IDUA) lysosomal enzyme and the majority of MPSI patients have severe central nervous system (CNS) involvement. Enzyme replacement therapy (ERT) with recombinant IDUA does not treat the CNS, due to the lack of transport of the enzyme across the blood-brain barrier (BBB). Human IDUA has been re-engineered as an IgG-IDUA fusion protein, valanafusp alpha, where the IgG domain is a monoclonal antibody (MAb) against the human insulin receptor (HIR)...
February 13, 2018: BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
Elizabeth Braunlin, Julia Steinberger, Todd DeFor, Paul Orchard, Aaron S Kelly
BACKGROUND: Hematopoietic cell transplantation is a life-saving procedure, but one associated with increasing long term cardiovascular risk requiring frequent long term follow-up. This therapy has significantly lengthened survival in mucopolysaccharidosis, type I H (Hurler syndrome), a disease with known coronary artery involvement. Metabolic syndrome - a constellation of central obesity, high blood pressure, low HDL cholesterol, elevated triglycerides and fasting blood glucose - is associated with increased cardiovascular risk, and occurs when any 3 or more of these 5 components is present within a single individual...
January 31, 2018: Biology of Blood and Marrow Transplantation
Dani L Webber, Amanda Choo, Laura J Hewson, Paul J Trim, Marten F Snel, John J Hopwood, Robert I Richards, Kim M Hemsley, Louise V O'Keefe
Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder resulting from the deficit of the N-sulfoglucosamine sulfohydrolase (SGSH) enzyme that leads to accumulation of partially-degraded heparan sulfate. MPS IIIA is characterized by severe neurological symptoms, clinically presenting as Sanfilippo syndrome, for which no effective therapy is available. The lysosomal SGSH enzyme is conserved in Drosophila and we have identified increased levels of heparan sulfate in flies with ubiquitous knockdown of SGSH/CG14291...
February 1, 2018: Experimental Neurology
E Poletto, G Pasqualim, R Giugliani, U Matte, G Baldo
Mucopolysaccharidosis type I (MPS I) is a rare disorder caused by deleterious sequence variants in the α-L-iduronidase (IDUA) gene. More than 200 pathogenic variants have been described so far, but their frequencies have not yet been analysed on a worldwide scale. To address this, we analysed the genotypes of MPS I patients from thirty-five published studies papers. The most common pathogenic variant observed was p.Trp402Ter. With frequencies of up to 63%, it was the major allele in most European countries, America and Australia...
February 2, 2018: Clinical Genetics
Michele B Kaufman
Benznidazole for pediatric patients with Chagas disease; vestronidase alfa-vjbk (Mepsevii) for adults and children with mucopolysaccharidosis type VII; and hepatitis B vaccine (recombinant), adjuvanted (Heplisav-B), for the prevention of infection caused by all known subtypes of hepatitis B virus in adults.
February 2018: P & T: a Peer-reviewed Journal for Formulary Management
Elif Bulut, Emine Pektas, Hatice S Sivri, Burcak Bilginer, Mumtaz M Umaroglu, Burce Ozgen
PURPOSE: To evaluate spinal MRI features of mucopolysaccharidosis (MPS) VI and to assess the correlation with clinical findings. METHODS: We retrospectively evaluated spinal MRI scans and clinical findings at the time of imaging in 14 patients (8 male, 6 female) with MPS VI. Craniometric measurements were performed and the images were assessed for bony anomalies, spinal stenosis and spinal cord compression. The degree of cervical cord compression was scored and correlated with neurological examination findings at the time of imaging...
January 29, 2018: British Journal of Radiology
Rong-Rong Zhao, Matthew Ackers-Johnson, Justus Stenzig, Chen Chen, Tao Ding, Yue Zhou, Peipei Wang, Shi Ling Ng, Peter Y Li, Gavin Teo, Pauline M Rudd, James W Fawcett, Roger S Y Foo
Background -Heart failure (HF) is a leading cause of mortality and morbidity, and the search for novel therapeutic approaches continues. In the monogenic disease mucopolysaccharidosis (MPS) VI, loss of function mutations in arylsulfatase B (ASB) leads to myocardial accumulation of chondroitin sulfate (CS) glycosaminoglycans (GAGs), manifesting as a myriad of cardiac symptoms. Here, we studied changes in myocardial CS in non-MPS failing hearts, and assessed its generic role in pathological cardiac remodeling...
January 25, 2018: Circulation
Esteban Alberto Gonzalez, Giselle Renata Martins, Angela Maria Vicente Tavares, Michelle Viegas, Edina Poletto, Roberto Giugliani, Ursula Matte, Guilherme Baldo
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder with multisystemic features, including heart enlargement, heart valve dysfunction, and aortic stiffness and dilatation. Previous studies have shown that MPS I mice overexpress cathepsin B (CtsB) in multiple tissues, including those from the cardiovascular system. Here, we hypothesized that inhibition of CtsB could ameliorate cardiac function parameters, as well as aorta and valve abnormalities found in MPS I. First, we found that total elastase activity in an MPS I aorta is elevated...
January 20, 2018: Life Sciences
Valeria De Pasquale, Antonio Pezone, Patrizia Sarogni, Alfonso Tramontano, Gabriele Giacomo Schiattarella, Vittorio Enrico Avvedimento, Simona Paladino, Luigi Michele Pavone
Mucopolysaccharidosis (MPS) IIIB is an inherited lysosomal storage disease caused by the deficiency of the enzyme α-N-acetylglucosaminidase (NAGLU) required for heparan sulfate (HS) degradation. The defective lysosomal clearance of undigested HS results in dysfunction of multiple tissues and organs. We recently demonstrated that the murine model of MPS IIIB develops cardiac disease, valvular abnormalities, and ultimately heart failure. To address the molecular mechanisms governing cardiac dysfunctions in MPS IIIB, we generated a model of the disease by silencing NAGLU gene expression in H9C2 rat cardiomyoblasts...
January 18, 2018: Cell Death & Disease
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