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