2024
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
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 symptoms
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
2021
Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3
Schiffmann R, Cox T, Dedieu J, Gaemers S, Hennermann J, Ida H, Mengel E, Mistry P, Musholt P, Sharma J, Zhang B, Peterschmitt J. Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3. Molecular Genetics And Metabolism 2021, 132: s95. DOI: 10.1016/j.ymgme.2020.12.229.Peer-Reviewed Original Research
2020
Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3
Schiffmann R, Cox T, Ida H, Mengel E, Mistry P, Crawford N, Gaemers S, Ji A, Peterschmitt M, Sharma J, Zhang Q, Fischer T. Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3. Molecular Genetics And Metabolism 2020, 129: s144-s145. DOI: 10.1016/j.ymgme.2019.11.382.Peer-Reviewed Original Research