2022
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1
Cox T, Charrow J, Lukina E, Mistry P, Foster M, Peterschmitt M. Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1. Genetics In Medicine 2022, 25: 100329. PMID: 36469032, DOI: 10.1016/j.gim.2022.10.011.Peer-Reviewed Original ResearchConceptsTreatment-naïve patientsHealthy reference rangeEnzyme replacement therapyReference rangeClinical trialsSkeletal manifestationsLong-term effectsEliglustat treatmentLumbar spine T-scoreGaucher disease type 1Bone marrow burden scoreLong-term efficacySpine T-scoreDisease type 1Bone painSkeletal complicationsTreatment-naïveMost patientsBone outcomesMIP-1βBurden scoreReplacement therapyPatientsTreatment durationT-score
2021
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
Drelichman G, Escobar N, Soberon B, Basack N, Frabasil J, Schenone A, Aguilar G, Larroudé M, Knight J, Zhao D, Ruan J, Mistry PK, Disease A. Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease. Molecular Genetics And Metabolism Reports 2021, 29: 100820. PMID: 34820281, PMCID: PMC8600149, DOI: 10.1016/j.ymgmr.2021.100820.Peer-Reviewed Original ResearchSevere skeletal manifestationsDiagnóstico y tratamientoSevere skeletal phenotypeGenotype/phenotype correlationGrupo ArgentinoNational cohortDisease manifestationsSkeletal manifestationsGaucher diseaseSkeletal diseaseLarge burdenDiseaseSkeletal phenotypePhenotype correlationComplex allelesArgentine groupCollaborative studyManifestationsChildhoodCollaborative groupsGroupHigh frequencyCohort
2019
Effects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment
Cox T, Charrow J, Lukina E, Mistry P, Marinakis T, Foster M, Gaemers S, Peterschmitt M. Effects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment. Molecular Genetics And Metabolism 2019, 126: s43. DOI: 10.1016/j.ymgme.2018.12.091.Peer-Reviewed Original Research