2025
Switching From Active Vitamin d and Phosphate Supplementation to Burosumab Significantly Corrects Lower Limb Malalignment in Pediatric X-Linked Hypophosphatemia
Ward L, Imel E, Frumberg D, Dilworth L, Siener C, Chen Z, Krolczyk S, Carpenter T. Switching From Active Vitamin d and Phosphate Supplementation to Burosumab Significantly Corrects Lower Limb Malalignment in Pediatric X-Linked Hypophosphatemia. Journal Of Bone And Mineral Research 2025, zjaf079. PMID: 40511857, DOI: 10.1093/jbmr/zjaf079.Peer-Reviewed Original ResearchLower limb malalignmentLimb malalignmentLower-limb malalignmentBaseline height z scoreZ-scoreLower extremity deformitiesLimbs of patientsX-linked hypophosphatemiaAssociated with greater changesFactor analysisLower limb malformationsDisease monitoring programsHeight z-scoreChance of improvementExtremity deformitiesGauge improvementYounger ageVitamin DBurosumab treatmentMalalignmentTreating physicianPediatric populationPhosphate supplementationRenal phosphate wastingActive vitamin DX-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline
Khan A, Ali D, Appelman-Dijkstra N, Carpenter T, Chaussain C, Imel E, de Beur S, Florenzano P, Abu Alrob H, Aldabagh R, Alexander R, Alsarraf F, Beck-Nielsen S, Biosse-Duplan M, Cohen-Solal M, Crowley R, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid M, Khan S, Khan A, Lehman A, Lems W, Lewiecki E, McDonnell C, Mirza R, Morgante E, Morrison A, Portale A, Rhee Y, Rush E, Siggelkow H, Tetradis S, Tosi L, Ward L, Guyatt G, Brandi M. X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline. The Journal Of Clinical Endocrinology & Metabolism 2025, dgaf170. PMID: 40243526, DOI: 10.1210/clinem/dgaf170.Peer-Reviewed Original ResearchInternational Working GroupSystematic reviewX-linked hypophosphatemiaClinical practice guidelinesPatient-important outcomesCertainty of evidenceConventional therapyNo therapyDiagnosis of XLHPatient partnersPatient societiesAbsence of fractureMultidisciplinary teamPractice guidelinesInsufficient evidenceGlobal guidelinesGRADE methodologyTreated with conventional therapyNarrative reviewRenal phosphate wastingSymptomatic adultsEffective medical therapyAdultsWorking GroupPathogenic variantsCraniosynostosis among children with X-linked hypophosphatemia: A systematic review and meta-analysis
Fisch S, Tudor A, Benchekroun E, Landsberg W, Feldstein N, Lamb M, Carpenter T, Rundle A, Jacobson J, Neugut A, Freedberg D. Craniosynostosis among children with X-linked hypophosphatemia: A systematic review and meta-analysis. Bone 2025, 196: 117488. PMID: 40220947, DOI: 10.1016/j.bone.2025.117488.Peer-Reviewed Original ResearchX-linked hypophosphatemiaPrevalence of craniosynostosisPooled prevalenceSystematic reviewMeta-analysisRandom-effects modelWeb of SciencePediatric populationSkull abnormalitiesCohort studyImpaired phosphate reabsorptionElevated FGF23 levelsPrevalenceFemale predominanceCase seriesFGF23 levelsPhosphate reabsorptionGene variantsChildrenIncreased vigilanceCraniosynostosisAbnormal bone growthGenetic disordersHypophosphatemiaAbnormalitiesAdvancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program
Brandi M, Carpenter T, Fukumoto S, Haffner D, Imel E, Kanematsu M, McCullough K, Ozono K. Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program. Frontiers In Endocrinology 2025, 16: 1471127. PMID: 40260280, PMCID: PMC12009718, DOI: 10.3389/fendo.2025.1471127.Peer-Reviewed Original ResearchConceptsX-linked hypophosphatemiaRandomized clinical trialsExcessive fibroblast growth factor 23Human anti-FGF23 antibodyObservational studyPhosphate-regulating endopeptidase homologAnti-FGF23 antibodyFibroblast growth factor 23Renal phosphate wastingLong-term outcomesStudy of patientsLong-term observational studiesPatient-reported outcomesPatients evidenceOral phosphateDosing regimensBone turnoverDental healthSerum phosphateChronic hypophosphatemiaClinical decision-makingPhosphate wastingPathogenic variantsClinical trialsGastrointestinal disturbancesMethodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults
Ali D, Khan A, Mirza R, Appelman-Dijkstra N, Brandi M, Carpenter T, Chaussain C, Imel E, de Beur S, Florenzano P, Morrison A, Alrob H, Alexander R, Alsarraf F, Beck-Nielsen S, Biosse-Duplan M, Cohen-Solal M, Crowley R, Dandurand K, Filler G, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid M, Khan S, Khan A, Lehman A, Lems W, Lewiecki E, McDonnell C, Morgante E, Portale A, Rhee Y, Siggelkow H, Tosi L, Ward L, Guyatt G. Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults. Journal Of Bone And Mineral Metabolism 2025, 43: 193-202. PMID: 40119067, DOI: 10.1007/s00774-025-01585-z.Peer-Reviewed Original ResearchConceptsCertainty of evidenceGRADE recommendationsImpact of medical interventionsManagement of "X-linked hypophosphatemiaX-linked hypophosphatemiaClinical practice guidelinesPatient-important outcomesRisk of biasNarrative literature reviewClinical practice surveyPatient partnersGuideline methodologistsGuideline panelFindings tablePractice guidelinesSystematic reviewPractice surveyMedical interventionsPregnant womenRecommendation strengthTreatment recommendationsInternational expertsPatient populationComprehensive guidelinesBody of evidenceCurrent Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience
Ali D, Alsarraf F, Abu Alrob H, Alexander R, Almoulia A, Appelman-Dijkstra N, Beck-Nielsen S, Biosse-Duplan M, Brandi M, Carpenter T, Chaussain C, Cohen-Solal M, Crowley R, Dandurand K, Florenzano P, Gagnon C, Goodyer P, Grimbly C, Hussein S, Imel E, de Beur S, Javaid M, Lehman A, Lems W, Lewiecki E, McDonnell C, Mirza R, Morgante E, Portale A, Rhee Y, Siggelkow H, Tosi L, Ward L, Guyatt G, Khan A. Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience. The Journal Of Clinical Endocrinology & Metabolism 2025, 110: e2347-e2361. PMID: 40111179, PMCID: PMC12190797, DOI: 10.1210/clinem/dgaf180.Peer-Reviewed Original ResearchConceptsX-linked hypophosphatemiaFollow-upManagement of "X-linked hypophosphatemiaPresence of bone painBlood pressureHistory of fractureSkeletal deformitiesEvaluation of childrenBone painDental infectionsRenal ultrasoundDental assessmentLaboratory profileChild follow-upRenal functionPHEX geneSerum phosphorusAssess painClinical examinationLactating womenFamily historyHypophosphatemiaAdult follow-upJoint involvementPatientsX-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline
Ali D, Carpenter T, Imel E, Ward L, Appelman-Dijkstra N, Chaussain C, de Beur S, Florenzano P, Abu Alrob H, Aldabagh R, Alexander R, Alsarraf F, Beck-Nielsen S, Biosse-Duplan M, Crowley R, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid M, Khan S, Khan A, Lehman A, Lems W, Lewiecki E, McDonnell C, Mirza R, Morgante E, Morrison A, Portale A, Rao C, Rhee Y, Rush E, Siggelkow H, Tetradis S, Tosi L, Guyatt G, Brandi M, Khan A. X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline. The Journal Of Clinical Endocrinology & Metabolism 2025, 110: 2055-2070. PMID: 39960858, PMCID: PMC12187519, DOI: 10.1210/clinem/dgaf093.Peer-Reviewed Original ResearchClinical practice guidelinesInternational Working GroupX-linked hypophosphatemiaClinical practice surveyPractice guidelinesMultidisciplinary healthcare professionalsPractice surveyManagement of "X-linked hypophosphatemiaPatient-important outcomesCertainty of evidenceCare of childrenNo therapyConventional therapyHealthcare professionalsDiagnosis of XLHPatient partnersMonitoring recommendationsTreatment of X-linked hypophosphatemiaMethodological expertsGRADE recommendationsSystematic reviewGenetic testingGRADE methodologyNarrative reviewDental complicationsSystematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia
Ali D, Mirza R, Hussein S, Alsarraf F, Alexander R, Abu Alrob H, Appelman-Dijkstra N, Biosse-Duplan M, Brandi M, Carpenter T, Chaussain C, Dandurand K, Filler G, Florenzano P, Fukumoto S, Grasemann C, Imel E, de Beur S, Morgante E, Ward L, Khan A, Guyatt G. Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2025, 110: 1205-1217. PMID: 39787354, PMCID: PMC12012687, DOI: 10.1210/clinem/dgaf011.Peer-Reviewed Original ResearchX-linked hypophosphatemiaConventional therapyLower limb deformitiesNo treatmentMedical therapyAdverse eventsManagement of "X-linked hypophosphatemiaTreatment-emergent adverse eventsObservational study of individualsObservational studyEfficacy of medical therapyPhysical health QoLAssessed risk of biasBurden of symptomsEffects of medical therapyOpen-label RCTRisk of biasCertainty of evidenceIncreased adverse eventsLimb deformitiesPost hoc studyWeb of ScienceHealth QoLStudy of individualsDental abscess
2024
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia
Ali D, Mirza R, Alsarraf F, Hussein S, Abu Alrob H, Appelman-Dijkstra N, Beck-Nielsen S, Biosse-Duplan M, Brandi M, Carpenter T, Chaussain C, Cohen-Solal M, Crowley R, Dandurand K, Florenzano P, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Imel E, de Beur S, Lehman A, Lewiecki E, Morgante E, Ward L, Khan A, Guyatt G. Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2024, 110: 1767-1780. PMID: 39715351, PMCID: PMC12086399, DOI: 10.1210/clinem/dgae890.Peer-Reviewed Original ResearchX-linked hypophosphatemiaConventional therapyPatient-important outcomesNo treatmentModerate certaintyObservational studyAdult patientsManagement of "X-linked hypophosphatemiaEfficacy of medical therapyEffects of burosumabLow certaintyObservational study of individualsHigh-certainty evidenceAssessed risk of biasRisk of biasAbscess riskLow RoB.Medical therapyImprove painPain measuresBurosumabWeb of ScienceGRADE methodologyTherapyEvidence certainty12605 Two Systematic Reviews Of Treatment Efficacy On Patient Important Outcomes In Children X-linked Hypophosphatemia
Ali D, Mirza R, Hussein S, Alsarraf F, Alexander R, AbuAlrob H, Brandi M, Carpenter T, Dandurand K, Filler G, Florenzano P, Fukumoto S, Grasemann C, Imel E, De Beur S, Morgante E, Ward L, Khan A, Guyatt G. 12605 Two Systematic Reviews Of Treatment Efficacy On Patient Important Outcomes In Children X-linked Hypophosphatemia. Journal Of The Endocrine Society 2024, 8: bvae163.528. PMCID: PMC11453601, DOI: 10.1210/jendso/bvae163.528.Peer-Reviewed Original ResearchRandomized controlled trialsBurden of symptomsCertainty of evidenceLower limb deformitiesPhysical health quality of lifePhysical health QoLSystematic reviewKyowa KirinOpen-label designModerate certaintyTreatment-emergent adverse eventsHealth quality of lifeObservational studyReviewed reference listsHealth QoLPatient-important outcomesRisk of biasHigh-certainty evidenceQuality of lifeLimb deformitiesWeb of ScienceX-linked hypophosphatemiaPost hoc studyCertainty evidenceReference listsImpact of burosumab on lower limb alignment in children with X-linked hypophosphatemia
Frumberg D, Merritt J, Chen A, Carpenter T. Impact of burosumab on lower limb alignment in children with X-linked hypophosphatemia. Journal Of The Pediatric Orthopaedic Society Of North America 2024, 6: 100012. PMID: 40433251, PMCID: PMC12088215, DOI: 10.1016/j.jposna.2024.100012.Peer-Reviewed Original ResearchMechanical femoral-tibial angleLower limbsNeutral alignmentLower limb malalignmentLower limb alignmentLevel of Evidence IIIX-linked hypophosphatemiaLower limb deformitiesFemoral-tibial angleLower limb radiographsValgus limbsLimb malalignmentImpact of burosumabLimb alignmentLimb radiographsCrossover armAngular deformityNormal limbsLimb deformitiesLimbVarusMalalignmentClinically normal limbsHemiepiphysiodesisBaseline
1998
Osteocalcin Production in Primary Osteoblast Cultures Derived from Normal and Hyp Mice
Carpenter T, Moltz K, Ellis B, Andreoli M, McCarthy T, Centrella M, Bryan D, Gundberg C. Osteocalcin Production in Primary Osteoblast Cultures Derived from Normal and Hyp Mice. Endocrinology 1998, 139: 35-43. DOI: 10.1210/en.139.1.35.Peer-Reviewed Original ResearchExposure to 1,25(OH)2D3Hyp micePrimary osteoblast culturesOsteoblast culturesOsteocalcin productionHuman X-linked hypophosphatemiaMurine osteoblastsMaturation-dependent fashionOsteocalcin messenger RNAHyp mouse modelEffects of 1,25(OH)2D3Response to 1,25(OH)2D3X-linked hypophosphatemiaMessenger RNASpecies-specific effectsInhibit osteoblast differentiationRegulation of osteocalcinMurine culturesIn vivo milieuMutant strainPrimary culturesStimulate osteocalcinDay 9MiceOsteocalcin
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply