2022
Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants
Mosallaei D, Hao M, Antaya RJ, Levian B, Kwong A, Cogan J, Hamilton C, Schwieger-Briel A, Tan C, Tang X, Woodley DT, Chen M. Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants. JAMA Dermatology 2022, 158: 366-374. PMID: 35234826, PMCID: PMC8892363, DOI: 10.1001/jamadermatol.2021.5992.Peer-Reviewed Original ResearchConceptsNonrandomized clinical trialIntravenous gentamicinJunctional epidermolysis bullosaNonsense variantDermal-epidermal junctionGentamicin treatmentClinical trialsEpidermolysis bullosaPopulation of patientsLaminin-332Low-dose gentamicinTotal activity scoreHome infusion servicesLong-term safetyDisease activityGentamicin therapySecondary outcomesLaminin-332 expressionPediatric patientsPrimary outcomeActivity scoreClinical outcomesAvailable therapiesNephrotoxic effectsOtotoxic effects
2020
861 Intravenous gentamicin therapy for junctional epidermolysis bullosa patients harboring nonsense mutations
Hao M, Antaya R, Cogan J, Hamilton C, Hou Y, Kwong A, Woodley D, Chen M. 861 Intravenous gentamicin therapy for junctional epidermolysis bullosa patients harboring nonsense mutations. Journal Of Investigative Dermatology 2020, 140: s112. DOI: 10.1016/j.jid.2020.03.877.Peer-Reviewed Original Research