2022
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial
Schiffmann R, Cox TM, Dedieu JF, Gaemers SJM, Hennermann JB, Ida H, Mengel E, Minini P, Mistry P, Musholt PB, Scott D, Sharma J, Peterschmitt MJ. Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial. Brain 2022, 146: 461-474. PMID: 36256599, PMCID: PMC9924909, DOI: 10.1093/brain/awac379.Peer-Reviewed Original ResearchConceptsGaucher disease type 3Years of treatmentEnzyme replacement therapyWeek 26Biomarker reductionLEAP trialWeek 52Patients 9Neurological manifestationsReplacement therapyPlasma concentrationsType 3Day 1Brain volumeAcid β-glucosidase activityImiglucerase enzyme replacement therapyDiverse neurological manifestationsSystemic disease parametersSerious adverse eventsInfiltrative lung diseaseWhole brain volumeRegional brain activityExploratory endpointsPrimary endpointSecondary endpoints
2020
Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades
El-Beshlawy A, Eid K, AbdelSalam A, Mohamed F, Selim Y, Gebril N, Fateen E, Mistry P. Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades. Blood 2020, 136: 21-22. DOI: 10.1182/blood-2020-141776.Peer-Reviewed Original ResearchEnzyme replacement therapyOverall survivalPediatric hematology clinicGaucher diseaseHepatopulmonary syndromeCohort studyNeurological findingsGBA mutationsHigh-dose enzyme replacement therapyLarge single-centre cohort studySingle-center cohort studyType 1 Gaucher diseaseCommon neurological findingsGaucher cell infiltrationCenter cohort studySingle-center cohortBaseline disease severityBone marrow examinationDate of diagnosisGaucher disease type 3Kaplan-Meier analysisLong-term outcomesProgressive neurological diseaseEarly-onset diseaseLarge cohort study
2016
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2016, 120: 47-56. PMID: 28040394, DOI: 10.1016/j.ymgme.2016.12.001.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyInternational Collaborative Gaucher Group Gaucher RegistryGD3 patientsGaucher RegistryPrimary central nervous system involvementImiglucerase enzyme replacement therapyCentral nervous system involvementGaucher diseaseSingle-center seriesGrowth outcomesNervous system involvementGaucher disease type 3Height z-scoreNumber of patientsLife-prolonging benefitsBroad phenotypic spectrumImiglucerase treatmentVisceral diseaseHemoglobin levelsPlatelet countReplacement therapySevere anemiaVisceral manifestationsSpleen volumeSystem involvement
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