2023
Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia
Simpson C, Santoro A, Carpenter T, Deng Y, Parziale S, Insogna K. Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia. Journal Of The Endocrine Society 2023, 7: bvad116. PMID: 37860221, PMCID: PMC10583534, DOI: 10.1210/jendso/bvad116.Peer-Reviewed Original ResearchLipocalin-2Control subjectsGreater riskLevels of LCN2Excessive weight gainLevels of leptinSerum leptin levelsCirculating LevelsLCN2 levelsSerum levelsYear age cohortLeptin levelsMetabolic abnormalitiesRetrospective studyAge cohortsInsulin sensitivityHigh prevalencePatientsWeight gainXLHLeptinAge 2HypophosphatemiaObesityChildren
2022
Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study
Brandi ML, Jan de Beur S, Briot K, Carpenter T, Cheong HI, Cohen-Solal M, Crowley RK, Eastell R, Imanishi Y, Imel EA, Ing SW, Insogna K, Ito N, Javaid K, Kamenicky P, Keen R, Kubota T, Lachmann RH, Perwad F, Pitukcheewanont P, Portale A, Ralston SH, Tanaka H, Weber TJ, Yoo HW, Sun W, Williams A, Nixon A, Takeuchi Y. Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study. Calcified Tissue International 2022, 111: 409-418. PMID: 35927518, DOI: 10.1007/s00223-022-01006-7.Peer-Reviewed Original ResearchConceptsPhase 3 studySubgroup analysisPhysical functionMean serum phosphate concentrationPost-hoc subgroup analysesAdditional efficacy endpointsPlacebo-controlled periodDouble-blind placeboSerum phosphate concentrationEfficacy endpointPain domainPain medicationTreatment armsSymptomatic adultsOpioid/Western OntarioBurosumabPlaceboTest distanceHypophosphatemiaRelevant subgroupsTotal scoreEndpointConfidence intervalsSubgroup variables
2020
Long-term safety in adults with X-linked Hypophosphatemia (XLH) treated with Burosumab, a fully human monoclonal antibody against FGF23: Final results of a phase 3 trial
Kamenický P, Portale A, Carpenter T, Briot K, Imel E, Weber T, Pitukcheewanont P, Cheong H, de Beur S, Imanishi Y, Ito N, Lachmann R, Tanaka H, Perwad F, Zhang L, Skrinar A, Rees L, Insogna K, Investigators O. Long-term safety in adults with X-linked Hypophosphatemia (XLH) treated with Burosumab, a fully human monoclonal antibody against FGF23: Final results of a phase 3 trial. Bone Reports 2020, 13: 100654. DOI: 10.1016/j.bonr.2020.100654.Peer-Reviewed Original Research
2018
A Phase 3 randomized, double-blind, placebo-controlled study investigating the efficacy and safety of Burosumab, an anti-FGF23 antibody, in adult X-Linked Hypophosphatemia (XLH)
Kamenicky P, Lachmann R, Carpenter T, Cohen-Solal M, Eastell R, Brandi M, Crowley R, Ralston S, Javaid M, Keen R, Briot K, Il C, Imanishi Y, Ito N, Tanaka H, Zhang L, Theodore-Oklota C, Mealiffe M, Martin J, Insogna K. A Phase 3 randomized, double-blind, placebo-controlled study investigating the efficacy and safety of Burosumab, an anti-FGF23 antibody, in adult X-Linked Hypophosphatemia (XLH). Endocrine Abstracts 2018 DOI: 10.1530/endoabs.56.oc3.1.Peer-Reviewed Original Research
2016
Hypophosphatemia promotes lower rates of muscle ATP synthesis
Pesta DH, Tsirigotis DN, Befroy DE, Caballero D, Jurczak MJ, Rahimi Y, Cline GW, Dufour S, Birkenfeld AL, Rothman DL, Carpenter TO, Insogna K, Petersen KF, Bergwitz C, Shulman GI. Hypophosphatemia promotes lower rates of muscle ATP synthesis. The FASEB Journal 2016, 30: 3378-3387. PMID: 27338702, PMCID: PMC5024687, DOI: 10.1096/fj.201600473r.Peer-Reviewed Original ResearchConceptsMuscle ATP synthesisATP synthesisMuscle weaknessIsolated muscle mitochondriaSolute carrier familyWild-type littermate controlsSolute carrier family 34Carrier familyLower ratesInsulin-stimulated ratesMuscle mitochondriaChronic hypophosphatemiaHeart failureHypophosphatemic groupHypophosphatemic miceHypophosphatemiaLittermate controlsKnockout miceBlood PLow ratePlasma PPatientsSimilar findingsMember 1Plasma inorganic phosphateAn Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis
Peter P, Brownstein C, Yao G, Olear E, Simpson C, Agrawal P, Carpenter T, Insogna K. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis. AACE Clinical Case Reports 2016, 2: ee278-ee283. DOI: 10.4158/ep15944.cr.Peer-Reviewed Original ResearchWhole-exome sequencingForms of ricketsExome sequencingGrowth factor 23Classic clinical featuresClinical suspicionClinical featuresClinical presentationFactor 23Parathyroid hormoneDihydroxyvitamin D3Correct diagnosisMistaken diagnosisUnusual caseNutritional deficienciesRicketsPatientsDiagnosisDiseaseHypophosphatemiaGenetic defectsCompound heterozygotesCYP27B1Gene sequencing technologyXLH
2014
A randomized, double-blind, placebo-controlled, ascending, single-dose study of a human monoclonal anti-FGF23 antibody (KRN23) in X-linked hypophosphatemia
Carpenter T, Imel E, Ruppe M, Weber T, Klausner M, Wooddell M, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna K, Peacock M. A randomized, double-blind, placebo-controlled, ascending, single-dose study of a human monoclonal anti-FGF23 antibody (KRN23) in X-linked hypophosphatemia. Bone Abstracts 2014 DOI: 10.1530/boneabs.3.pp90.Peer-Reviewed Original ResearchPharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) after ascending single-dose administration in patients with X-linked hypophosphatemia
Zhang X, Carpenter T, Imel E, Ruppe M, Weber T, Klausner M, Kawakami T, Ito T, Humphrey J, Insogna K, Peacock M. Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) after ascending single-dose administration in patients with X-linked hypophosphatemia. Bone Abstracts 2014 DOI: 10.1530/boneabs.3.pp91.Peer-Reviewed Original Research
2011
A clinician's guide to X‐linked hypophosphatemia
Carpenter TO, Imel EA, Holm IA, de Beur S, Insogna KL. A clinician's guide to X‐linked hypophosphatemia. Journal Of Bone And Mineral Research 2011, 26: 1381-1388. PMID: 21538511, PMCID: PMC3157040, DOI: 10.1002/jbmr.340.BooksConceptsTreatment guidelinesRenal phosphate wastingPathophysiologic featuresPrototypic disorderPhosphate wastingClinician's GuideMissed diagnosisSupport groupsConference recommendationsCommon formComplex disorderDearth of informationHypophosphatemiaDisordersGuidelinesPatientsScientific conferencesRicketsCliniciansDiseasePhysiciansDiagnosisWastingCalcitonin Administration in X-Linked Hypophosphatemia
Liu ES, Carpenter TO, Gundberg CM, Simpson CA, Insogna KL. Calcitonin Administration in X-Linked Hypophosphatemia. New England Journal Of Medicine 2011, 364: 1678-1680. PMID: 21524226, PMCID: PMC3162370, DOI: 10.1056/nejmc1010928.Peer-Reviewed Original Research
2010
Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status
Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM. Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status. The Journal Of Clinical Endocrinology & Metabolism 2010, 95: e352-e357. PMID: 20685863, PMCID: PMC2968736, DOI: 10.1210/jc.2010-0589.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAgedBone Density Conservation AgentsCalcitriolChildCircadian RhythmEnzyme-Linked Immunosorbent AssayFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedGlucuronidaseHumansKlotho ProteinsMaleMiddle AgedParathyroid HormonePhosphatesVitamin DConceptsSerum KlothoSerum FGF23Higher klotho levelsHospital research unitRenal phosphate handlingAcademic medical centerEffect of treatmentFibroblast growth factorKlotho levelsPTH secretionMedical therapySoluble KlothoDihydroxyvitamin DFGF23 regulationPhosphate handlingMedical CenterFGF23KlothoXLHCircadian variationGrowth factorPTHAdultsHypophosphatemiaTherapy
2009
Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice. Calcified Tissue International 2009, 85: 235-246. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.Peer-Reviewed Original ResearchMeSH KeywordsAchilles TendonAdolescentAdultAgedAnimalsBiomarkersCalcinosisChildDisease Models, AnimalDisease ProgressionFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedHumansMiceMice, Inbred C57BLMiddle AgedPatellar LigamentPhenotypeQuadriceps MuscleRadiographyRheumatic DiseasesTendinopathyTendonsYoung AdultConceptsFGF-23Fibroblast growth factor receptor 3Hyp miceMajority of patientsHigh circulating levelsPhosphate-regulating hormoneBone spur formationTendon insertion siteGrowth factor receptor 3Insertion siteLigament insertion sitesCirculating LevelsPhosphate excretionBone-forming osteoblastsHeterotopic calcificationOsteophyte formationHistological examinationMurine modelReceptor 3Spur formationHypophosphatemiaEnthesis fibrocartilageBone mineralizationBiochemical milieuMice
1984
Vitamin D metabolism and bone histomorphometry in a patient with antacid-induced osteomalacia
Godsall J, Baron R, Insogna K. Vitamin D metabolism and bone histomorphometry in a patient with antacid-induced osteomalacia. The American Journal Of Medicine 1984, 77: 747-750. PMID: 6486152, DOI: 10.1016/0002-9343(84)90378-4.Peer-Reviewed Original ResearchConceptsVitamin D metabolismD metabolismDihydroxyvitamin DBone histomorphometryNormal levelsAltered vitamin D metabolismPhosphate-binding antacidsVitamin D metabolitesHypophosphatemic osteomalaciaD metabolitesOsteomalaciaUndetectable levelsPatientsPossible roleHistomorphometryMetabolismMetabolitesHypophosphatemiaAntacidsPathogenesisIllnessResorptionElevated concentrationsLevelsIngestion
1980
Osteomalacia and Weakness From Excessive Antacid Ingestion
Insogna K, Bordley D, Caro J, Lockwood D. Osteomalacia and Weakness From Excessive Antacid Ingestion. JAMA 1980, 244: 2544-2546. PMID: 7431592, DOI: 10.1001/jama.1980.03310220042025.Peer-Reviewed Original ResearchConceptsAluminum hydroxide-containing antacidElevated alkaline phosphatase levelsSerum calcium levelsAlkaline phosphatase levelsAntacid ingestionBone painPhosphate malabsorptionSevere hypophosphatemiaX-ray filmsInitial laboratory studiesPhysician awarenessUrinary phosphorusPatient's failureDietary phosphateCalcium levelsPhosphatase levelsOsteomalaciaFurther studiesHypercalciuriaHypophosphatemiaMalabsorptionPainAntacidsFailureSyndrome