"Sly syndrome"

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

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

Clinical course of sly syndrome (mucopolysaccharidosis type VII). Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments

Authorisation Application MDRI Multi-domain responder index MHLW [Japanese] Ministry of Health, Labor and Welfare MID Minimally important difference MPS Mucopolysaccharidoses MPS VII Mucopolysaccharidosis VII, Sly syndrome MPS HAQ Mucopolysaccharidoses Health Assessment Questionnaire MR Mannose receptor ODD Orphan Drug Designation PD Pharmacodynamics(s) PedsQL Pediatric Quality of Life of Regulation (EC) No 726/2004. The eligibility to the centralised procedure was agreed upon by the EMA/CHMP on 28 April 2016. Mepsevii was designated as an orphan medicinal product EU/3/12/973 on 21 March 2012 in the following condition: Treatment of mucopolysaccharidosis type VII (Sly syndrome). The applicant applied for the following indication “Mepsevii is indicated for the treatment

IV-A) * * Hurler syndrome (mucopolysaccharidosis, type 1H; alpha1-iduronidase deficiency) * * Sly syndrome (mucopolysaccharidosis, type VII; beta-glucuronidase deficiency * * Farber disease (disseminated lipogranulomatosis) * * GM1gangliosidosis, type I (beta-galactosidase deficiency) * * Mucolipidosis I

DiseaseandMadelung Deformity.)MPS can be subclassified as follows: * * Hurler syndrome (MPS IH) * * Hurler-Scheie syndrome (MPS I-H/S) * * Scheie syndrome (MPS IS) * * Hunter syndrome (MPS II) * * Sanfilippo syndrome (MPS III) * * Morquio syndrome (MPS IV) * * Maroteaux-Lamy syndrome (MPS VI) * * Sly syndrome (MPS VII) In addition, MPS IX, an extremely rare form related to hyaluronidase IS) * * Hunter syndrome (MPS II) * * Sanfilippo syndrome (MPS III) * * Morquio syndrome (MP IV) (see the fourth through eighth images below) * * Maroteaux-Lamy syndrome (MPS VI) * * Sly syndrome (MPS VII) Hurler syndrome; lateral radiograph of thoracolumbar vertebrae illustrates vertebral plana. Courtesy of Bruce M. Rothschild, MD. View Media Gallery Hurler syndrome; widened metaphyses

Pharmacokinetic and Pharmacodynamic Modeling to Optimize the Dose of Vestronidase Alfa, an Enzyme Replacement Therapy for Treatment of Patients with Mucopolysaccharidosis Type VII: Results from Three Trials. Mucopolysaccharidosis type VII (MPS VII, Sly Syndrome) is a progressive, debilitating, ultra-rare lysosomal storage disorder caused by the deficiency of β-glucuronidase (GUS), an enzyme

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

An improved purification method for the lysosomal storage disease protein β-glucuronidase produced in CHO cells Human β-glucuronidase (GUS; EC 3.2.1.31) is a lysosomal enzyme that catalyzes the hydrolysis of β-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 15 L 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.

with Hurler syndrome; two had Sly syndrome and one each of Niemann-Pick disease type A/B, Gaucher's disease, and mucolipidosis. Four of eleven cases (36%) with recurrent NIHF were found to have LSDs. In spite of extreme rarity of LSDs, they should be considered as a potential cause of NIHF, especially with recurrent NIHF. Specific investigations of LSD leading to definitive diagnosis may aid the clinician

Mucopolysaccharidosis Type VII (Diagnosis) Sly Syndrome (Mucopolysaccharidosis Type VII): Background, Pathophysiology, Epidemiology For YouNews & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ0Mjk4LW92ZXJ2aWV3processing....Drugs & Diseases > Pediatrics: Genetics and Metabolic Disease Sly Syndrome (Mucopolysaccharidosis Type VII)Updated: Nov 30, 2017 * Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Sly Syndrome (Mucopolysaccharidosis Type VII) * * Sections Sly Syndrome

Mucopolysaccharidosis Type VII (Follow-up) Sly Syndrome (Mucopolysaccharidosis Type VII) Treatment & Management: Medical Care, Surgical Care, Consultations For YouNews & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español ?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ0Mjk4LXRyZWF0bWVudA==processing....Drugs & Diseases > Pediatrics: Genetics and Metabolic Disease Sly Syndrome (Mucopolysaccharidosis Type VII) Treatment & ManagementUpdated: Nov 30, 2017 * Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD more... * * Share * Email * Print

Mucopolysaccharidosis Type VII (Overview) Sly Syndrome (Mucopolysaccharidosis Type VII): Background, Pathophysiology, Epidemiology News & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español * Français * Português =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ0Mjk4LW92ZXJ2aWV3processing....Drugs & Diseases > Pediatrics: Genetics and Metabolic Disease Sly Syndrome (Mucopolysaccharidosis Type VII)Updated: Nov 30, 2017 * Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD more... * * Share * Email * Print * FeedbackClose * Facebook * Twitter * LinkedIn * WhatsAppSections Sly Syndrome (Mucopolysaccharidosis Type VII) * * Sections Sly Syndrome

Mucopolysaccharidosis Type VII (Treatment) Sly Syndrome (Mucopolysaccharidosis Type VII) Treatment & Management: Medical Care, Surgical Care, Consultations For YouNews & PerspectiveDrugs & DiseasesCME & EducationAcademyVideoDecision PointEdition:EnglishMedscapeEnglishDeutschEspañolFrançaisPortuguêsUKNewUnivadisLog In Sign Up It's Free!English EditionMedscape * English * Deutsch * Español ?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ0Mjk4LXRyZWF0bWVudA==processing....Drugs & Diseases > Pediatrics: Genetics and Metabolic Disease Sly Syndrome (Mucopolysaccharidosis Type VII) Treatment & ManagementUpdated: Nov 30, 2017 * Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD more... * * Share * Email * Print

, Hunter syndrome, mild (iduronate sulfatase deficiency) * * MPS type III A-D, Sanfilippo syndrome (heparan N -sulfatase deficiency) * * MPS type IV A, Morquio syndrome, classic (galactose 6-sulfatase deficiency) * * MPS type VI, Maroteaux-Lamy syndrome (arylsulfatase B deficiency) * * MPS type VII, Sly syndrome (beta-glucuronidase deficiency) See the following

IV-A) * * Hurler syndrome (mucopolysaccharidosis, type 1H; alpha1-iduronidase deficiency) * * Sly syndrome (mucopolysaccharidosis, type VII; beta-glucuronidase deficiency * * Farber disease (disseminated lipogranulomatosis) * * GM1gangliosidosis, type I (beta-galactosidase deficiency) * * Mucolipidosis I

DiseaseandMadelung Deformity.)MPS can be subclassified as follows: * * Hurler syndrome (MPS IH) * * Hurler-Scheie syndrome (MPS I-H/S) * * Scheie syndrome (MPS IS) * * Hunter syndrome (MPS II) * * Sanfilippo syndrome (MPS III) * * Morquio syndrome (MPS IV) * * Maroteaux-Lamy syndrome (MPS VI) * * Sly syndrome (MPS VII) In addition, MPS IX, an extremely rare form related to hyaluronidase IS) * * Hunter syndrome (MPS II) * * Sanfilippo syndrome (MPS III) * * Morquio syndrome (MP IV) (see the fourth through eighth images below) * * Maroteaux-Lamy syndrome (MPS VI) * * Sly syndrome (MPS VII) Hurler syndrome; lateral radiograph of thoracolumbar vertebrae illustrates vertebral plana. Courtesy of Bruce M. Rothschild, MD. View Media Gallery Hurler syndrome; widened metaphyses

IV-A) * * Hurler syndrome (mucopolysaccharidosis, type 1H; alpha1-iduronidase deficiency) * * Sly syndrome (mucopolysaccharidosis, type VII; beta-glucuronidase deficiency * * Farber disease (disseminated lipogranulomatosis) * * GM1gangliosidosis, type I (beta-galactosidase deficiency) * * Mucolipidosis I

DiseaseandMadelung Deformity.)MPS can be subclassified as follows: * * Hurler syndrome (MPS IH) * * Hurler-Scheie syndrome (MPS I-H/S) * * Scheie syndrome (MPS IS) * * Hunter syndrome (MPS II) * * Sanfilippo syndrome (MPS III) * * Morquio syndrome (MPS IV) * * Maroteaux-Lamy syndrome (MPS VI) * * Sly syndrome (MPS VII) In addition, MPS IX, an extremely rare form related to hyaluronidase IS) * * Hunter syndrome (MPS II) * * Sanfilippo syndrome (MPS III) * * Morquio syndrome (MP IV) (see the fourth through eighth images below) * * Maroteaux-Lamy syndrome (MPS VI) * * Sly syndrome (MPS VII) Hurler syndrome; lateral radiograph of thoracolumbar vertebrae illustrates vertebral plana. Courtesy of Bruce M. Rothschild, MD. View Media Gallery Hurler syndrome; widened metaphyses

, Hunter syndrome, mild (iduronate sulfatase deficiency) * * MPS type III A-D, Sanfilippo syndrome (heparan N -sulfatase deficiency) * * MPS type IV A, Morquio syndrome, classic (galactose 6-sulfatase deficiency) * * MPS type VI, Maroteaux-Lamy syndrome (arylsulfatase B deficiency) * * MPS type VII, Sly syndrome (beta-glucuronidase deficiency) See the following