2017
Establishing and Validating an Ichthyosis Severity Index
Marukian NV, Deng Y, Gan G, Ren I, Thermidor W, Craiglow BG, Milstone LM, Choate KA. Establishing and Validating an Ichthyosis Severity Index. Journal Of Investigative Dermatology 2017, 137: 1834-1841. PMID: 28596001, DOI: 10.1016/j.jid.2017.04.037.Peer-Reviewed Original ResearchConceptsIchthyosis severityDisorders of keratinizationIntrarater intraclass correlation coefficientsIntraclass correlation coefficientTherapeutic responseClinical trialsClinical phenotypingLevels of severityBody sitesErythemaSeverity IndexSeverityInterrater reliabilityPerson evaluationDermatologistsVisual indexSubjectsIndexVisual standardsSettingKeratinizationTrialsDifferent settings
2014
Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting
van Steensel MAM, Coulombe PA, Kaspar RL, Milstone LM, McLean IWH, Roop DR, Smith FJD, Sprecher E, Schwartz ME. Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting. Journal Of Investigative Dermatology 2014, 134: 588-591. PMID: 24518109, PMCID: PMC3930927, DOI: 10.1038/jid.2013.392.Commentaries, Editorials and Letters
2010
Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials
Hickerson RP, Leachman SA, Pho LN, Gonzalez-Gonzalez E, Smith FJ, McLean WH, Contag CH, Leake D, Milstone LM, Kaspar RL. Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials. Journal Of Investigative Dermatology 2010, 131: 1029-1036. PMID: 21191405, DOI: 10.1038/jid.2010.372.Peer-Reviewed Original ResearchConceptsClinical trialsPachyonychia congenitaEnd pointPhase 1b clinical trialClinical end pointsRare skin disorderMolecular end pointsTypes of trialsImmune surveillancePatient-derived keratinocytesSkin disordersSustained inhibitionTreatment resultsRNAi-based therapeuticsRNA interferenceMRNA levelsTrialsTotal RNAHuman skinKeratinocyte culturesMRNAAmplifiable mRNATherapeuticsInhibitorsInhibition
2009
First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder
Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS, Kornbrust DJ, Smith FJ, McLean WI, Milstone LM, Kaspar RL. First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder. Molecular Therapy 2009, 18: 442-446. PMID: 19935778, PMCID: PMC2839285, DOI: 10.1038/mt.2009.273.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaPhase Ib clinical trialSubjective patient assessmentPhase Ib trialDose-escalation trialClinical efficacy measuresAutosomal dominant syndromeIb trialAdverse eventsWashout periodPatient assessmentEfficacy measuresPlantar callusClinical trialsPlantar keratodermaOpposite footSkin disordersSkin diseasesClinical settingDominant syndromeSatisfactory treatmentAdditional studiesTrialsGenetic disordersSiRNA
2008
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita
Leachman SA, Hickerson RP, Hull PR, Smith FJ, Milstone LM, Lane EB, Bale SJ, Roop DR, McLean WH, Kaspar RL. Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. Journal Of Dermatological Science 2008, 51: 151-157. PMID: 18495438, PMCID: PMC2587483, DOI: 10.1016/j.jdermsci.2008.04.003.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaQuantitative RT-PCRRT-PCRReal-time RT-PCRQuantitative real-time RT-PCRClinical efficacyGenetic skin disordersClinical trialsCandidate siRNASkin disordersRNA interferenceNovel therapeuticsPotent inhibitionTherapeutic siRNAsClinical applicationDisordersGenetic disordersPhysiciansCongenitaMutant allelesSiRNAHuman diseasesKeratin disordersPatientsDisease