Search results for "Chondroitinsulfatases"

showing 3 items of 3 documents

Heterogeneity of Morquio disease.

1986

Further clinical heterogeneity of Morquio disease, mucopolysaccharidosis IV (MPS IV), is delineated by the observation of a 30-year-old man with unusually mild clinical manifestations. He is 156 cm tall, has comparatively mild skeletal abnormalities and fine corneal deposits. Keratosulfaturia is absent. N-Acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase (E.C. 3.1.6.-) was markedly reduced in his fibroblasts. The residual enzyme activity exhibited a pH profile comparable to that of patients with the "classical" form of the disorder. From our observation and a review of the literature it is concluded that Morquio disease can be divided in several subgroups: besides the severe ("classical"…

AdultMalemedicine.medical_specialtyDiseaseMucopolysaccharidosis Type IVAInternal medicineGeneticsmedicineHumansGenetics (clinical)chemistry.chemical_classificationbiologybusiness.industrySulfataseGenetic VariationMucopolysaccharidosis IVFibroblastsHydrogen-Ion Concentrationbeta-GalactosidasePhenotypeEnzyme assayChondroitinsulfatasesEnzymeEndocrinologyPhenotypechemistrybiology.proteinMucopolysaccharidosis IVbusinessNeuraminidaseClinical genetics
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Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.

2017

Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test. Patients received elosulfase alfa 2.0 mg/kg/week intravenously for 48 weeks. Efficacy measures were functional dexterity, pinch/grip strength, mobility in a modified timed 25-foot walk, pain, quality of life, respiratory function, and urine keratan sulfate (KS). Safety/tolerability was also assessed. Fifteen patients received elosulfase alfa, three patients discontinued ERT due to adverse events (two were grade 3 drug-related adverse events, the other was not drug-related), …

0301 basic medicineMaleWalkingchemistry.chemical_compoundGrip strengthGALNS protein0302 clinical medicineElosulfase alfaQuality of lifeActivities of Daily LivingRespiratory functionFunctional abilityChildGenetics (clinical)education.field_of_studyMucopolysaccharidosis IVChondroitinsulfatases3. Good healthRespiratory Function TestsTreatment OutcomeTolerability6.1 PharmaceuticalsOriginal ArticleFemalePatient Safetyphysical enduranceGALNS protein human [supplementary concept]Adultsafetymedicine.medical_specialtyAdolescentClinical Trials and Supportive ActivitiesPopulationClinical Sciences03 medical and health sciencesYoung Adultmobility limitationClinical ResearchInternal medicinemedicineGeneticsHumansEnzyme Replacement TherapyAdverse effecteducationhuman [supplementary concept]Exercisebusiness.industryEvaluation of treatments and therapeutic interventionsOriginal Articles030104 developmental biologychemistryKeratan SulfateQuality of LifeSelf Reportbusiness030217 neurology & neurosurgeryBiomarkers
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Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

2015

Objective: To report and discuss the multi-domain impact of elosulfase alfa, with focus on tertiary and composite endpoints, in the 24-week, randomized, double-blind, placebo-controlled phase 3 trial in patients with Morquio A syndrome (mucopolysaccharidosis IVA). Methods: Patients with Morquio A syndrome >= 5 aged years were randomized 1:1:1 to elosulfase alfa 2.0 mg/kg/week (qw; N = 58), elosulfase alfa 2.0 mg/kg/every other week (qow; N = 59), or placebo (N = 59) for 24 weeks. Primary and secondary efficacy measures were 6-minute walk test (6MWT; primary), 3-minute stair climb test (3-MSCT) and urinary keratan sulfate (KS). Safety was also evaluated. Tertiary efficacy measures included r…

Adultmedicine.medical_specialtyAdolescentIdursulfaseMucopolysaccharidosisEndocrinology Diabetes and MetabolismPlaceboBiochemistrylaw.inventionYoung Adultchemistry.chemical_compoundEndocrinologyDouble-Blind MethodRandomized controlled trialElosulfase alfalawSurveys and QuestionnairesInternal medicineActivities of Daily LivingmedicineGeneticsHumansEnzyme Replacement TherapyRespiratory functionYoung adultChildMolecular Biologybusiness.industryMucopolysaccharidosis IVMaximal Voluntary VentilationMiddle Agedmedicine.diseaseBody HeightChondroitinsulfatasesRespiratory Function TestsTreatment OutcomechemistryChild PreschoolPhysical therapyPopulation studybusinessmedicine.drugMolecular genetics and metabolism
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