Galsulfase (Naglazyme) - mucopolysaccharidosis VI (N-acetylgalactosamine 4-sulfatase deficiency; Maroteaux-Lamy syndrome) Provision of galsulfase (Naglazyme®) for long term enzyme replacement therapy in mucopolysaccharidosis VI (N-acetylgalactosamine 4-sulfatase deficiency; Maroteaux-Lamy syndrome) in Wales October 2024 Recommendation: Galsulfase (Naglazyme®) is recommended as an option for use within NHS Wales for the treatment of patients with long term enzyme replacement therapy in mucopolysaccharidosis VI (N-acetylgalactosamine 4-sulfatase deficiency; Maroteaux-Lamy syndrome) Background Galsulfase (Naglazyme®) for treating mucopolysaccharidosis VI (MPS VI) was assigned orphan medicine status in 2001 by the European Medicines Agency and licensed in 2006. The All Wales Medicines Strategy
UX111 for treating mucopolysaccharidosis type IIIA UX111 for treating mucopolysaccharidosis type IIIA - NIHR Innovation Observatory * Who we are * What we do * Our Networks * Engage * Events * News * Resources Get in touch * * A world leading Horizon Scanning Facility The NIHR Innovation Observatory is a world leading health and care innovation scanning centre, providing data-driven insights * Imminent horizon * Our Networks * Our Stakeholders * Our Work with NICE * Health & Life Sciences Ecosystem * Engage * Industry * Public Involvement * Capacity Building * Events * News * Resources * Contact 31 October 2024 UX111 for treating mucopolysaccharidosis type IIIAUX111 is in clinical development for the treatment of mucopolysaccharidosis type IIIA (MPS IIIA). MPS, also known as Sanfilippo
Urgent clinical commissioning policy statement: Vestronidase alfa for Mucopolysaccharidosis Type VII (MPS, Sly syndrome) (infantile) Skip to main contentHome News Publications Statistics Blogs Events Contact usSearch SearchAbout us Our work Commissioning Get involved CoronavirusUrgent clinical commissioning policy statement: Vestronidase alfa for Mucopolysaccharidosis Type VII (MPS, Sly syndrome for Mucopolysaccharidosis Type VII (MPS, Sly syndrome) (infantile)PDF477 KB17 pagesTerms and conditionsPrivacy and cookiesSocial media and comment moderationHow could this website work better for you?Accessibility statementOpen Government Licence v3.0Sign up to our email bulletins Follow us on Twitter Follow us on Facebook Find us on Instagram Visit us on LinkedIn Watch videos on YouTube All RSS
Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG) (includes supplemental material) Treatment of mucopolysaccharidosis type II (Huntersyndrome): a Delphi derived practice resource of theAmerican College of Medical Genetics and Genomics (ACMG)Kim L. McBride, MD1,2, Susan A. Berry –1742; https://doi.org/10.1038/s41436-020-0909-zKeywords:consensus; evidence-based practice; practice guide-line; therapeuticsINTRODUCTIONThe typical, severe form of mucopolysaccharidosis, type II(MPS II, MIM 309900) was first described in two brothers bythe Canadian physician Charles Hunter in 1917.1Theestimated incidence varies from 1/60,000 to 1/150,000, withreports of higher rates among
Discovery of allosteric regulators with clinical potential to stabilize alpha-L-iduronidase in mucopolysaccharidosis type I. Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal disease caused by lowered activity of the enzyme alpha-L-iduronidase (IDUA). Current therapeutic options show limited efficacy and do not treat some important aspects of the disease. Therefore, it may
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report. Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon
Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis. Mucopolysaccharidosis (MPS) and glycoproteinosis are 2 groups of heterogenous lysosomal storage disorders (LSDs) caused by defective degradation of glycosaminoglycans (GAGs) and glycoproteins, respectively
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials. Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially . However, clear evidence is lacking and interventional research is challenging due to the rarity as well as the heterogeneity within and between disease groups and interindividual differences in treatment response. Our objective is to examine the effectiveness of CBD on severe behavioral manifestations in three RGNDs, including Tuberous Sclerosis Complex (TSC), mucopolysaccharidosis type III (MPS III
Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I. Mucopolysaccharidosis (MPS) I is a lysosomal storage disorder characterized by deficient alpha-l-iduronidase activity, leading to abnormal accumulation of glycosaminoglycans (GAGs) in cells and tissues. Synovial joint disease is prevalent and significantly reduces patient
An empowered, clinically-viable hematopoietic stem cell gene therapy approach for the treatment of multisystemic Mucopolysaccharidosis Type II. Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked recessive lysosomal storage disorder due to a mutation in the lysosomal enzyme iduronate-2-sulfatase (IDS) gene. IDS deficiency leads to a progressive, multisystem accumulation
α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial. Mucopolysaccharidosis type I (MPS I) causes systemic accumulation of glycosaminoglycans due to a genetic deficiency of α-L-iduronidase (IDUA), which results in progressive systemic symptoms affecting multiple organs, including the central nervous
"Mucopolysaccharidosis syndrome in a 9-Year-old boy: oral-dental management and diagnostic considerations": a case report. Mucopolysaccharidosis (MPS) comprises a group of metabolic diseases with a disorder in the function of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (mucopolysaccharides) (Kubaski et al. in Diagnostics 10:161, 2020; Hampe et al. in Cells 9:1838, 2020 ; Tomatsu et al. Mol Genet Metab 110(1-2):42-53, 2013). At least seven variants of this disorder have been identified to date (Muenzer et al. in Pediatrics 124(6):e1228-e1239, 2009; Muenzer et al. in Eur J Pediatr 171:181-8, 2012). this study aims to report a case of mucopolysaccharidosis in a 9-year-old child. Also, the treatments and dental observations made for the child have been described. Also
Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo. Skeletal alterations in the head and neck region, such as midfacial hypoplasia, foramen magnum stenosis and spinal canal stenosis, are commonly observed in patients with mucopolysaccharidosis (MPS). However, enzyme replacement therapy (ERT), one of the major treatment approaches
Elosulfase alfa for treating mucopolysaccharidosis type Iva Elosulfase alfa for treating mucopolysaccharidosis type IVa | Guidance | NICE You are here: 1. NICE 2. NICE Guidance 3. Published Guidance Elosulfase alfa for treating mucopolysaccharidosis type IVa * Highly specialised technologies guidance * Reference number: HST2 * Published: 16 December 2015 OverviewThis guidance has been updated and replaced by NICE’s highly specialised technologies guidance on elosulfase alfa for treating mucopolysaccharidosis type 4A (HST19).
Vestronidase alfa-vjbk (Mepsevii) - To treat pediatric and adult patients with an inherited metabolic condition called mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. Mepsevii (vestronidase alfa-vjbk) Injection * Skip to main page content * Skip to search * Skip to topics menu * Skip to common linksHHS U.S. Department of Health and Human Services U.S. Food and Drug
A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. Norm-based scores used to assess cognitive ability have clinical value when describing functioning of patients with neuronopathic disorders compared with unaffected, same-age peers . However, they have limitations when used to assess change in cognitive ability between two timepoints, especially in children with severe cognitive decline. Calculation of Projected Retained Ability Scores (PRAS) is a novel method developed to characterize absolute change in norm-based ability test scores. In this analysis, PRAS were calculated post hoc for children with mucopolysaccharidosis II (MPS II
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study. Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by a disease-associated variant in the IDS gene, which encodes iduronate 2-sulfatase (IDS). We aimed to characterize the clinical characteristics and genotypes