2021
Musculoskeletal Features in Adults With X-linked Hypophosphatemia: An Analysis of Clinical Trial and Survey Data
Javaid MK, Ward L, Pinedo-Villanueva R, Rylands AJ, Williams A, Insogna K, Imel EA. Musculoskeletal Features in Adults With X-linked Hypophosphatemia: An Analysis of Clinical Trial and Survey Data. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e1249-e1262. PMID: 34636401, PMCID: PMC8852215, DOI: 10.1210/clinem/dgab739.Peer-Reviewed Original ResearchConceptsMusculoskeletal featuresClinical trialsHistory of fractureClinical Trials GroupAge 20 yearsClinical trial subjectsProportion of adultsMusculoskeletal manifestationsPain subgroupsSpinal stenosisGroup of adultsOverall prevalenceTrial groupLow prevalenceAge bandsTrial subjectsOnline survey participantsAdultsAgeSurgeryHigh ratePrevalenceXLHTrialsSurvey participants
2019
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period. Calcified Tissue International 2019, 105: 271-284. PMID: 31165191, DOI: 10.1007/s00223-019-00568-3.Peer-Reviewed Original ResearchConceptsWeek 48Adverse eventsWeek 24Sustained improvementTreatment-related serious adverse eventsOpen-label treatment periodSafety of burosumabDouble-blind placeboFatal adverse eventsSerious adverse eventsSerum phosphorus levelsPatient-reported outcomesSerum phosphorus concentrationRenal phosphate wastingHuman monoclonal antibodyContinued beneficial effectsHealing of fracturesRare genetic disorderMusculoskeletal morbidityPhysical functionContinuation periodMusculoskeletal impairmentsPhosphate wastingTreatment periodBurosumabClinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
Zhang C, Zhao Z, Sun Y, Xu L, JiaJue R, Cui L, Pang Q, Jiang Y, Li M, Wang O, He X, He S, Nie M, Xing X, Meng X, Zhou X, Yan L, Kaplan JM, Insogna KL, Xia W. Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. Bone 2019, 121: 212-220. PMID: 30682568, DOI: 10.1016/j.bone.2019.01.021.Peer-Reviewed Original ResearchAdolescentAdultChildChild, PreschoolChinaFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Association StudiesHumansInfantMaleMiddle AgedMutationPHEX Phosphate Regulating Neutral EndopeptidasePoint MutationRetrospective StudiesSex CharacteristicsYoung Adult
2016
Longitudinal increase in vitamin D binding protein levels after initiation of tenofovir/lamivudine/efavirenz among individuals with HIV
Hsieh E, Fraenkel L, Han Y, Xia W, Insogna KL, Yin MT, Zhu T, Cheng X, Li T. Longitudinal increase in vitamin D binding protein levels after initiation of tenofovir/lamivudine/efavirenz among individuals with HIV. AIDS 2016, 30: 1935-1942. PMID: 27124896, PMCID: PMC4949136, DOI: 10.1097/qad.0000000000001131.Peer-Reviewed Original ResearchConceptsTenofovir disoproxil fumarateVitamin DProcollagen type 1 N-terminal propeptideInitiation of TDFTenofovir/lamivudine/efavirenzVitamin D binding protein (VDBP) levelsCollagen type 1 cross-linked C-telopeptideIntact parathyroid hormone levelsCross-linked C-telopeptideIntact parathyroid hormoneParathyroid hormone levelsTotal procollagen type 1 N-terminal propeptideBinding protein levelsProtein levelsMulticenter clinical trialPlasma samplesOngoing multicenter clinical trialsN-terminal propeptideClinical characteristicsParathyroid hormoneBone lossFormation markersDisoproxil fumarateC-telopeptideBone resorption
2014
Increased bone resorption during tenofovir plus lopinavir/ritonavir therapy in Chinese individuals with HIV
Hsieh E, Fraenkel L, Xia W, Hu YY, Han Y, Insogna K, Yin MT, Xie J, Zhu T, Li T. Increased bone resorption during tenofovir plus lopinavir/ritonavir therapy in Chinese individuals with HIV. Osteoporosis International 2014, 26: 1035-1044. PMID: 25224293, PMCID: PMC4334679, DOI: 10.1007/s00198-014-2874-3.Peer-Reviewed Original ResearchConceptsHuman immunodeficiency virusLopinavir/ritonavirBone turnover markersBone resorption marker levelsResorption marker levelsNon-Chinese populationsAntiretroviral therapyTreatment failureImmunodeficiency virusMarker levelsSkeletal metabolismC-terminal cross-linking telopeptideLopinavir/ritonavir therapyTreatment-naïve patientsFirst-line therapyBone resorption markersProcollagen type 1Multi-center trialPlasma samplesChinese individualsN-terminal propeptideType 1 collagenRitonavir therapyTurnover markersResorption markersEffect of Paricalcitol on Circulating Parathyroid Hormone in X-Linked Hypophosphatemia: A Randomized, Double-Blind, Placebo-Controlled Study
Carpenter TO, Olear EA, Zhang JH, Ellis BK, Simpson CA, Cheng D, Gundberg CM, Insogna KL. Effect of Paricalcitol on Circulating Parathyroid Hormone in X-Linked Hypophosphatemia: A Randomized, Double-Blind, Placebo-Controlled Study. The Journal Of Clinical Endocrinology & Metabolism 2014, 99: 3103-3111. PMID: 25029424, PMCID: PMC4154090, DOI: 10.1210/jc.2014-2017.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAlkaline PhosphataseBone Density Conservation AgentsChildDouble-Blind MethodErgocalciferolsFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsHumansHyperparathyroidismMaleMiddle AgedParathyroid HormonePhosphorusPlacebosProspective StudiesTreatment OutcomeVitamin DYoung AdultConceptsRenal phosphate thresholdGlomerular filtration rateBone scanSerum phosphorusFiltration rateXLH patientsEffect of paricalcitolUse of paricalcitolPlacebo-treated subjectsElevated PTH levelsSerum calcium levelsSuppression of PTHHospital research unitSerum alkaline phosphatase activityPTH levelsCreatinine levelsSecondary outcomesStandard therapyUrinary calciumPlacebo subjectsParathyroid hormoneSerum calciumAlkaline phosphatase activityD levelsSkeletal improvement
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
2003
Torus Palatinus: A New Anatomical Correlation with Bone Density in Postmenopausal Women
Belsky JL, Hamer JS, Hubert JE, Insogna K, Johns W. Torus Palatinus: A New Anatomical Correlation with Bone Density in Postmenopausal Women. The Journal Of Clinical Endocrinology & Metabolism 2003, 88: 2081-2086. PMID: 12727958, DOI: 10.1210/jc.2002-021726.Peer-Reviewed Original ResearchConceptsBone densityTorus palatinusPostmenopausal womenZ-scoreDual energy x-ray absortiometryNormal postmenopausal womenPostmenopausal female subjectsBody mass indexBone mineral densityBone density measurementsBone density assessmentHigher bone densityMass indexCaucasian womenMineral densityCommunity physiciansUnselected populationAnatomical correlationLumbar vertebraeFemale subjectsDensity assessmentPalatinusOral exostosesWomenPossible correlation
1999
Bone Densities in Patients Receiving Isotretinoin for Cystic Acne
Leachman SA, Insogna KL, Katz L, Ellison A, Milstone LM. Bone Densities in Patients Receiving Isotretinoin for Cystic Acne. JAMA Dermatology 1999, 135: 961-965. PMID: 10456346, DOI: 10.1001/archderm.135.8.961.Peer-Reviewed Original ResearchConceptsCystic acneBone densityWard's triangleCalcium metabolismHealthy control subjectsYoung menIsotretinoin useOral isotretinoinPatient groupControl subjectsMean changeHealthy volunteersControl groupAcnePatientsMeasurable alterationsIsotretinoinFurther studiesOsteoporosisDecreased densityRetinoidsMetabolismMenBoneDirect effect
1996
24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study
Carpenter TO, Keller M, Schwartz D, Mitnick M, Smith C, Ellison A, Carey D, Comite F, Horst R, Travers R, Glorieux FH, Gundberg CM, Poole AR, Insogna KL. 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study. The Journal Of Clinical Endocrinology & Metabolism 1996, 81: 2381-2388. PMID: 8964881, DOI: 10.1210/jcem.81.6.8964881.Peer-Reviewed Original ResearchConceptsD3 supplementationStandard treatmentSkeletal lesionsClinical research center studyCorrection of hyperparathyroidismImprovement of ricketsPlacebo-controlled trialD supplementationRachitic abnormalitiesNephrogenous cAMPPTH secretionStandard therapyPTH valuesSerum phosphorusCenter studyRadiographic featuresBone biopsyOsteoid surfaceBone diseaseMurine modelHypophosphatemic ricketsUseful adjunctCalcium homeostasisHyperparathyroidismXLHLetters to the Editor
Kerstetter J, Insogna K. Letters to the Editor. Nutrition Reviews 1996, 54: 66-67. PMID: 9053828, DOI: 10.1111/j.1753-4887.1996.tb03860.x.Books
1994
Dietary hypercalciuria in patients with calcium oxalate kidney stones
Burtis W, Gay L, Insogna K, Ellison A, Broadus A. Dietary hypercalciuria in patients with calcium oxalate kidney stones. American Journal Of Clinical Nutrition 1994, 60: 424-429. PMID: 8074077, DOI: 10.1093/ajcn/60.3.424.Peer-Reviewed Original ResearchConceptsCalcium excretionFree dietDietary hypercalciuriaKidney stonesUrinary calcium excretionHigh sodium intakeCalcium oxalate stonesHypercalciuric patientsSodium excretionUnselected patientsDietary sodiumSodium intakeDietary calciumDietary factorsDietary habitsPatientsHypercalciuriaExcretionOxalate stonesDietary proteinDietMultiple regression analysisCalciumStonesIntakeNocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia
Carpenter TO, Mitnick MA, Ellison A, Smith C, Insogna KL. Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 1994, 78: 1378-1383. PMID: 8200940, DOI: 10.1210/jcem.78.6.8200940.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsFrequency of hyperparathyroidismMean iPTH valueNephrogenous cAMP excretionPathogenesis of nephrocalcinosisInitiation of therapyVitamin D preparationsGroup of patientsOnset of treatmentExaggerated secretionParathyroid statusIPTH valuesTertiary hyperparathyroidismParathyroid functionUntreated patientsOccasional complicationCAMP excretionHyperparathyroidismPhosphopenic ricketsD preparationsPatientsControl individualsRicketsIntact hormoneNocturnal rise
1992
A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets
Sullivan W, Carpenter T, Glorieux F, Travers R, Insogna K. A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets. The Journal Of Clinical Endocrinology & Metabolism 1992, 75: 879-885. PMID: 1517380, DOI: 10.1210/jcem.75.3.1517380.Peer-Reviewed Original ResearchConceptsSymptomatic adultsOral phosphateOsteoid volumeCessation of therapyUrinary calcium excretionSymptomatic adult patientsMean serum phosphateDihydroxyvitamin D3 therapyMineral apposition rateCalcium excretionD3 therapyRenal insufficiencyTertiary hyperparathyroidismAdult patientsDrug regimenJoint painMost patientsPretreatment serumProspective trialClinical courseSerum phosphateSymptom scoresBone biopsyCombined administrationCurrent treatmentSerum Parathyroid Hormone Level Is Elevated in Some Patients With Disorders of Keratinization
Milstone LM, Ellison AF, Insogna KL. Serum Parathyroid Hormone Level Is Elevated in Some Patients With Disorders of Keratinization. JAMA Dermatology 1992, 128: 926-930. PMID: 1320849, DOI: 10.1001/archderm.1992.01680170058005.Peer-Reviewed Original ResearchConceptsDisorders of keratinizationPityriasis rubra pilarisPTH levelsSecondary hyperparathyroidismPTH valuesSerum parathyroid hormone levelsNormal PTH valuesParathyroid hormone valuesSerum PTH valuesParathyroid hormone levelsSerum PTH levelsElevated PTH levelsHigh calcium dietIchthyosis linearis circumflexaCongenital ichthyosiform erythrodermaSecond patientBullous congenital ichthyosiform erythrodermaExact prevalenceCalcium metabolismHormone valuesHormone levelsPatientsActive PTHPhysiologic significanceDifferent disorders
1990
Vitamin D metabolism in chronic childhood hypoparathyroidism: Evidence for a direct regulatory effect of calcium
Carpenter T, Insogna K, Boulware S, Mitnick M. Vitamin D metabolism in chronic childhood hypoparathyroidism: Evidence for a direct regulatory effect of calcium. The Journal Of Pediatrics 1990, 116: 252-257. PMID: 2299496, DOI: 10.1016/s0022-3476(05)82883-5.Peer-Reviewed Original Research