2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry
Rabin R, Hirsch Y, Booth K, Hall P, Yachelevich N, Mistry P, Ekstein J, Pappas J. ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry. American Journal Of Medical Genetics Part A 2024, e63919. PMID: 39473378, DOI: 10.1002/ajmg.a.63919.Peer-Reviewed Original ResearchIndividuals of Ashkenazi Jewish descentAshkenazi Jewish descentARSA geneIndividuals of Ashkenazi Jewish ancestryFounder variantAshkenazi Jewish populationJewish descentAshkenazi Jewish ancestryBi-allelic pathogenic variantsCompound heterozygous stateNeurodegenerative lysosomal storage diseaseGait abnormalitiesPhysical declineScreening programProtein modelsMetachromatic leukodystrophyPathogenic variantsJewish ancestryCompound heterozygosityLysosomal storage diseaseGenesArsAHeterozygous stateSevere phenotypeLate infantile metachromatic leukodystrophySystematic Review and Meta-Analysis of Urine Neutrophil Gelatinase–Associated Lipocalin for Acute Kidney Injury in Cirrhosis
Puthumana J, Lugon N, Xu Y, Deng Y, Mistry P, Parikh C, Consortium T, Angeli P, Belcher J, Gambino C, Salaheldin M, Treepraertsuk S. Systematic Review and Meta-Analysis of Urine Neutrophil Gelatinase–Associated Lipocalin for Acute Kidney Injury in Cirrhosis. Kidney International Reports 2024, 9: 2278-2281. PMID: 39081737, PMCID: PMC11284356, DOI: 10.1016/j.ekir.2024.04.050.Peer-Reviewed Original ResearchAge-specific prevalence of Parkinson’s disease and possible parkinsonian syndrome in Gaucher disease: Real-world evidence from the ICGG Gaucher Registry
Alcalay R, Mistry P, Di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon G, Balwani M. Age-specific prevalence of Parkinson’s disease and possible parkinsonian syndrome in Gaucher disease: Real-world evidence from the ICGG Gaucher Registry. Parkinsonism & Related Disorders 2024, 122: 106119. DOI: 10.1016/j.parkreldis.2024.106119.Peer-Reviewed Original ResearchGaucher disease type 3: disease mechanisms and potential therapies
Mistry P. Gaucher disease type 3: disease mechanisms and potential therapies. The Biomedical & Life Sciences Collection 2024, 2024: e1005614. DOI: 10.69645/pxam2089.Peer-Reviewed Original ResearchLong‐term effectiveness of eliglustat treatment: A real‐world analysis from the International Collaborative Gaucher Group Gaucher Registry
Mistry P, Balwani M, Charrow J, Lorber J, Niederau C, Carwile J, Oliveira‐dos‐Santos A, Perichon M, Cil S, Kishnani P. Long‐term effectiveness of eliglustat treatment: A real‐world analysis from the International Collaborative Gaucher Group Gaucher Registry. American Journal Of Hematology 2024, 99: 1500-1510. PMID: 38686876, DOI: 10.1002/ajh.27347.Peer-Reviewed Original ResearchGaucher disease type 1International Collaborative Gaucher Group Gaucher RegistryTreatment naive patientsBone mineral densityGaucher RegistrySwitching patientsPlatelet countSpleen volumeClinical parametersFollow-upLumbar spine BMD Z-scoreLumbar spine bone mineral densityClinical trialsSpine bone mineral densitySpine BMD Z-scoreZ-scoreYears of follow-upBMD Z-scoresGaucher disease type 1 patientsRegistration clinical trialsEnzyme replacement therapyEliglustat treatmentMineral densityReplacement therapyLiver volumePlain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3
El-Beshlawy A, Tylki-Szymanska A, Belmatoug N, Mistry P. Plain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3. Future Rare Diseases 2024, 4: frd52. DOI: 10.2217/frd-2023-0015.Peer-Reviewed Original ResearchBeta-glucosidase enzymePlain Language SummaryGaucher diseaseSlow growthBeta-glucosidaseEnzyme replacement therapyLanguage SummaryQuality of life of peopleLife-prolonging treatmentInternational Collaborative Gaucher GroupQuality of lifeGenetic conditionsEnzymeType 3Year of treatmentImproved most symptomsLong-term symptomsAge-specific Risk of Parkinson’s Disease and Parkinsonian Syndrome in Patients with Type 1 Gaucher Disease: Real-world Evidence from the International Collaborative Gaucher Group Gaucher Registry (P2-3.001)
Alcalay R, Mistry P, Di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon G, Balwani M. Age-specific Risk of Parkinson’s Disease and Parkinsonian Syndrome in Patients with Type 1 Gaucher Disease: Real-world Evidence from the International Collaborative Gaucher Group Gaucher Registry (P2-3.001). Neurology 2024, 102 DOI: 10.1212/wnl.0000000000205243.Peer-Reviewed Original ResearchVavCre mediated conditional deletion of Gba in mice recapitulates human Gaucher disease type 1, a platform to investigate the role of myeloid cells and altered hematopoiesis
Nair S, Belinsky G, Mistry P. VavCre mediated conditional deletion of Gba in mice recapitulates human Gaucher disease type 1, a platform to investigate the role of myeloid cells and altered hematopoiesis. Molecular Genetics And Metabolism 2024, 141: 107978. DOI: 10.1016/j.ymgme.2023.107978.Peer-Reviewed Original ResearchDigenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes
Saith A, Kasaiyan M, Ruan J, Basiri M, Mistry P. Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes. Molecular Genetics And Metabolism 2024, 141: 108026. DOI: 10.1016/j.ymgme.2023.108026.Peer-Reviewed Original ResearchEliglustat substrate reduction therapy in pediatric patients with Gaucher disease
Saith A, Basiri M, Yang R, Mistry P. Eliglustat substrate reduction therapy in pediatric patients with Gaucher disease. Molecular Genetics And Metabolism 2024, 141: 108027. DOI: 10.1016/j.ymgme.2023.108027.Peer-Reviewed Original ResearchAge-specific risk of Parkinson's disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry
Balwani M, Mistry P, di Fonzo A, Batista J, Bianculli P, Carwile J, Perichon M, Alcalay R. Age-specific risk of Parkinson's disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry. Molecular Genetics And Metabolism 2024, 141: 107767. DOI: 10.1016/j.ymgme.2023.107767.Peer-Reviewed Original ResearchEliglustat substrate reduction therapy in Gaucher disease patients with cardiac comorbidities
Saith A, Basiri M, Yang R, Mistry P. Eliglustat substrate reduction therapy in Gaucher disease patients with cardiac comorbidities. Molecular Genetics And Metabolism 2024, 141: 108025. DOI: 10.1016/j.ymgme.2023.108025.Peer-Reviewed Original Research
2023
Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism
Mistry P, Garcia-Tsao G. Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism. New England Journal Of Medicine 2023, 389: 2010-2013. PMID: 37991861, DOI: 10.1056/nejme2310332.Peer-Reviewed Original ResearchAdvancing diagnosis and management of liver disease in adults through exome sequencing
Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.Peer-Reviewed Original ResearchConceptsLiver diseaseWhole-exome sequencingUnknown etiologyTertiary referral academic medical centerReferral academic medical centerExome sequencingLiver disease patientsManagement of adultsAcademic health care centerComprehensive clinical evaluationHealth care centersAcademic medical centerGenetic variantsRare genetic variantsAdult patientsLiver centersHepatic steatosisDisease patientsClinical evaluationCare centerFamily historyMedical CenterClinical valueAdult medicinePatientsP1588: LONG‐TERM REAL‐WORLD EFFECTIVENESS OF ELIGLUSTAT IN TREATMENT‐NAÏVE AND SWITCH PATIENTS ENROLLED IN THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY
Mistry P, Balwani M, Charrow J, Lorber J, Niederau C, Carwile J, Uslu S, Kishnani P. P1588: LONG‐TERM REAL‐WORLD EFFECTIVENESS OF ELIGLUSTAT IN TREATMENT‐NAÏVE AND SWITCH PATIENTS ENROLLED IN THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY. HemaSphere 2023, 7: e2191333. PMCID: PMC10430384, DOI: 10.1097/01.hs9.0000973228.21913.33.Peer-Reviewed Original ResearchGaucher disease type 3: genetics and phenotypes
Mistry P. Gaucher disease type 3: genetics and phenotypes. The Biomedical & Life Sciences Collection 2023, 2023: e1005604. DOI: 10.69645/poro3742.Peer-Reviewed Original ResearchEgyptian Gaucher disease type 3 patients: a large cohort study spanning two decades
El-Beshlawy A, Abdel-Azim K, Abdel-Salam A, Selim Y, Said F, Gebril N, Fateen E, Mistry P. Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades. Journal Of Rare Diseases 2023, 2: 7. DOI: 10.1007/s44162-023-00011-0.Peer-Reviewed Original ResearchGD type 3Enzyme replacement therapyYears of ERTLarge single-center studySingle-center studyThird of patientsOverall survival ratePediatric hematology clinicLong-term outcomesLarge cohort studyBulbar symptomsGD3 patientsHepatopulmonary syndromeCohort studyEgyptian patientsLiver cirrhosisHematology clinicNeurological assessmentSevere thrombocytopeniaReplacement therapySevere splenomegalyFamily historyGenotype/phenotype studiesSevere hepatomegalyPatientsOsteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center
Basiri M, Ghaffari M, Ruan J, Murugesan V, Kleytman N, Belinsky G, Akhavan A, Lischuk A, Guo L, Klinger K, Mistry P. Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center. ELife 2023, 12: e87537. PMID: 37249220, PMCID: PMC10317498, DOI: 10.7554/elife.87537.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapySubstrate reduction therapyAvascular osteonecrosisTertiary referral centerGaucher diseaseReferral centerTreatment initiationGD patientsImiglucerase enzyme replacement therapyResidual disease activityAnti-drug antibodiesYears of treatmentType of therapyRare inborn errorMixed-effects logistic modelGD1 patientsSpleen statusDisease activityClinical outcomesRisk stratificationReplacement therapyIndependent correlatesMultiple therapiesReduction therapyHigh riskThe Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158
Mistry P, Kishnani P, Balwani M, Charrow J, Hull J, Weinreb N, Cox T. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158. Journal Of Clinical Medicine 2023, 12: 3269. PMID: 37176709, PMCID: PMC10179580, DOI: 10.3390/jcm12093269.Peer-Reviewed Original ResearchOsteonecrosis in the era of Gaucher disease therapies
Basiri M, Ruan J, Belinsky G, Yang R, Guo L, Klinger K, Mistry P. Osteonecrosis in the era of Gaucher disease therapies. Molecular Genetics And Metabolism 2023, 138: 107020. DOI: 10.1016/j.ymgme.2022.107020.Peer-Reviewed Original Research