2020
Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study
Qureshi M, Patterson M, Clark V, Johnson J, Moutvic M, Driscoll S, Kemppainen J, Huston J, Anderson J, Badley A, Tebben P, Wackel P, Oglesbee D, Glockner J, Schreiner G, Dugar S, Touchette J, Gavrilova R. Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study. Journal Of Inherited Metabolic Disease 2020, 44: 502-514. PMID: 32677106, DOI: 10.1002/jimd.12285.Peer-Reviewed Original ResearchConceptsCardiac magnetic resonance imagingMagnetic resonance imagingOpen-labelCardiac endpointsLeft ventricular (LV) structureFriedreich Ataxia Rating ScaleImprovement of cardiac functionLV mass indexSingle-center trialFriedreich's ataxiaCompared to baselineAtaxia Rating ScaleNonstatistically significant improvementPhase IIFA diagnosisStatistically significant improvementNeurological outcomeSignificant improvementPediatric subjectsAdverse eventsProspective studyCardiac functionHeart failureCardiac structureEvaluate safety
2019
Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score
Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen CY, Chang T, San Martin J, Carpenter TO. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. Bone 2019, 122: 76-81. PMID: 30772600, DOI: 10.1016/j.bone.2019.02.010.Peer-Reviewed Original ResearchConceptsRickets Severity ScoreSerum alkaline phosphataseSeverity scoreSevere self-reported painPediatric Outcomes Data Collection InstrumentPhase 2 clinical trialAlkaline phosphataseLess physical functionSelf-reported painSevere clinical featuresHeight z-scoreRadiographic Global ImpressionPediatric Orthopaedic SocietyIntra-rater reliabilitySubstantial inter-rater reliabilityClinical featuresClinical outcomesBilateral kneesGlobal ImpressionPhysical functionSubstantial intra-rater reliabilityWeek 64Clinical trialsBurosumab treatmentFunctional impairment
2012
Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy
Tebben P, Milliner D, Horst R, Harris P, Singh R, Wu Y, Foreman J, Chelminski P, Kumar R. Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e423-e427. PMID: 22337913, PMCID: PMC3319216, DOI: 10.1210/jc.2011-1935.Peer-Reviewed Original ResearchConceptsSplice junction mutationElevated serum 1,25-dihydroxyvitamin DSerum 1,25-dihydroxyvitamin DAutosomal dominant transmissionCYP24A1 geneIntermittent hypercalcemiaUrinary calciumAnalysis of family membersDominant transmissionNormal rangeD concentrationsElevated 1,25-dihydroxyvitamin DReduced bone mineral densitySerum 24,25-dihydroxyvitamin DCYP24A1 gene mutationsElevated urinary calciumReduced urinary calciumBone mineral densityGenetic analysisGenetic basisElevated 1,25-dihydroxyvitamin D concentrationsStatistically significant reductionDecreased PTH concentrationsFamily membersGenes
2004
Fibroblast Growth Factor 23, Parathyroid Hormone, and 1α,25-Dihydroxyvitamin D in Surgically Treated Primary Hyperparathyroidism
Tebben P, Singh R, Clarke B, Kumar R. Fibroblast Growth Factor 23, Parathyroid Hormone, and 1α,25-Dihydroxyvitamin D in Surgically Treated Primary Hyperparathyroidism. Mayo Clinic Proceedings 2004, 79: 1508-1513. PMID: 15595334, DOI: 10.4065/79.12.1508.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkersDihydroxycholecalciferolsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsFollow-Up StudiesHumansHyperparathyroidismMaleMiddle AgedParathyroid GlandsParathyroid HormoneParathyroidectomyPostoperative CarePreoperative CareProbabilityProspective StudiesSampling StudiesSensitivity and SpecificitySeverity of Illness IndexStatistics, NonparametricTreatment OutcomeConceptsBone-specific alkaline phosphataseBone-specific alkaline phosphatase concentrationsFibroblast growth factor 23Primary hyperparathyroidismParathyroid hormoneSerum phosphorus concentrationFGF23 concentrationsSerum calciumSurgically treated primary hyperparathyroidismElevated serum calciumLow-normal rangeParathyroid hormone concentrationsAdult patientsPreoperative stateSerum phosphorusPostoperative stateHyperparathyroidismHealthy controlsFibroblast growth factorPatientsFGF23Growth factorSurgerySerumPhosphorus homeostasis