0000000000324145

AUTHOR

Elisabeth Jameson

showing 2 related works from this author

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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Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

2015

Summary Background Molybdenum cofactor deficiency (MoCD) is characterised by early, rapidly progressive postnatal encephalopathy and intractable seizures, leading to severe disability and early death. Previous treatment attempts have been unsuccessful. After a pioneering single treatment we now report the outcome of the complete first cohort of patients receiving substitution treatment with cyclic pyranopterin monophosphate (cPMP), a biosynthetic precursor of the cofactor. Methods In this observational prospective cohort study, newborn babies with clinical and biochemical evidence of MoCD were admitted to a compassionate-use programme at the request of their treating physicians. Intravenous…

Compassionate Use TrialsMalePediatricsmedicine.medical_specialtyGENOMIC STRUCTUREFEATURESEncephalopathyMolybdopterin synthaseCyclic pyranopterin monophosphateDrug Administration ScheduleCohort Studieschemistry.chemical_compoundOrganophosphorus CompoundsmedicineURINEHumansBIOSYNTHESISProspective cohort studyAdverse effectMolybdenum cofactor deficiencyPRECURSORMetal Metabolism Inborn ErrorsMetal metabolismbusiness.industryMUTATIONSInfant NewbornGENES MOCS1CPMPMOLYBDOPTERIN SYNTHASEGeneral Medicinemedicine.diseasePterinsTreatment OutcomechemistryFemalebusinessCohort studyLancet (London, England)
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