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 DConsistent reduction in rate of fracture with setrusumab therapy in patients with osteogenesis imperfecta: month 14 data from phase 2 of the orbit study
Picaro L, Gottesman G, Carpenter T, Velasco D, Wallace M, Smith P, Imel E, Luca D, Byers H, Krolczyk S, Lewiecki E. Consistent reduction in rate of fracture with setrusumab therapy in patients with osteogenesis imperfecta: month 14 data from phase 2 of the orbit study. Endocrine Abstracts 2025 DOI: 10.1530/endoabs.110.p4.Peer-Reviewed Original ResearchX-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 abscessP052: Durable fracture rate reduction in patients with OI with setrusumab treatment: 14-month data from phase 2 of the Orbit study
Byers H, Gottesman G, Carpenter T, Velasco D, Wallace M, Smith P, Imel E, Luca D, Krolczyk S, Lewiecki E. P052: Durable fracture rate reduction in patients with OI with setrusumab treatment: 14-month data from phase 2 of the Orbit study. Genetics In Medicine Open 2025, 3: 102896. DOI: 10.1016/j.gimo.2025.102896.Peer-Reviewed Original Research
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 certainty6820 Assessing The Efficacy And Safety Of Setrusumab For Osteogenesis Imperfecta: Updated Phase 2 Data From The Phase 2/3 Orbit Study
Gottesman G, Carpenter T, Wallace M, Smith P, Imel E, Wang H, Byers H, Krolczyk S, Lewiecki E. 6820 Assessing The Efficacy And Safety Of Setrusumab For Osteogenesis Imperfecta: Updated Phase 2 Data From The Phase 2/3 Orbit Study. Journal Of The Endocrine Society 2024, 8: bvae163.358. PMCID: PMC11454541, DOI: 10.1210/jendso/bvae163.358.Peer-Reviewed Original Research12605 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 listsSAT-283 Tumor-Induced Osteomalacia Disease Monitoring Program: A Longitudinal Cohort Study on An Ultra-Rare Disease
De Beur S, Dahir K, Imel E, Zanchetta M, Li J, Hetzer J, CiÄźeroÄźlu O, Carpenter T. SAT-283 Tumor-Induced Osteomalacia Disease Monitoring Program: A Longitudinal Cohort Study on An Ultra-Rare Disease. Journal Of The Endocrine Society 2024, 8: bvae163.2316. PMCID: PMC12047137, DOI: 10.1210/jendso/bvae163.2316.Peer-Reviewed Original ResearchTumor-induced osteomalaciaGroup 1Group 2Group 3Burosumab treatmentTreatment of tumor-induced osteomalaciaData cutoff dateDiagnosis to enrollmentSafety of burosumabComplete surgical removalRenal phosphate wastingHuman monoclonal antibodyEfficacy of burosumabLong-term safetyAge of subjectsTime of enrollmentBone painMean doseLongitudinal cohort studyMesenchymal tumorsSurgical removalMusculoskeletal painClinical manifestationsConventional therapyPhosphate wastingCorrection of Paradoxical Mineralization in Murine CKD-MBD by ENPP1 Enzyme Biologics
Kato H, Kim H, Ishaq T, Sims D, Srivastava S, Stabach P, Carpenter T, O'Neill W, Braddock D. Correction of Paradoxical Mineralization in Murine CKD-MBD by ENPP1 Enzyme Biologics. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024sre0cym1. DOI: 10.1681/asn.2024sre0cym1.Peer-Reviewed Original ResearchFamilial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries
Goldsweig B, Yilmaz R, Waikar A, Brownstein C, Carpenter T. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries. Journal Of Bone And Mineral Research 2024, 39: 1406-1411. PMID: 39163488, DOI: 10.1093/jbmr/zjae137.Peer-Reviewed Original ResearchFamilial hypocalciuric hypercalcemiaCalcium-sensing receptor geneLow calcium formulaParathyroid hormoneHypocalciuric hypercalcemiaSerum calciumUrinary calcium excretionElevated serum calciumAutosomal-dominant mannerWhole-exome sequencingExtracellular calcium-sensingMonths of ageMild hyperparathyroidismPTH levelsCalcium excretionIdiopathic hypoparathyroidismNewborn girlInactivating variantsRare formPathogenic variantsDownstream signaling proteinsManagement quandaryBenign conditionsReceptor geneExome sequencingENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia
Reichenberger E, O’Brien K, Hatori A, Carpenter T, van de Wetering K, Flaman L, Howe J, Ortiz D, Sabbagh Y, Chen I. ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. JBMR Plus 2024, 8: ziae103. PMID: 39165910, PMCID: PMC11334334, DOI: 10.1093/jbmrpl/ziae103.Peer-Reviewed Original ResearchPlasma PPi levelsCraniometaphyseal dysplasiaEctopic calcificationKnock-in (KI) miceCraniofacial bonesAutosomal dominant craniometaphyseal dysplasiaPPi levelsSkeletal phenotypeForamen magnumIncreased bone massEnzyme replacement therapyGenetic bone disordersMetaphyses of long bonesKnock-inSevere headacheReplacement therapyFacial palsyNeural foraminaNeurological symptomsInhibitor of mineralizationReplicates many featuresMouse modelBone disordersENPP1 activityCraniofacial hyperostosisHealthcare Resource Use Associated With Tumor-Induced Osteomalacia: A Literature Review
de Beur S, Dahir K, Imel E, Zanchetta M, Williams A, Li Z, Webb N, Crowe V, Johnson B, Carpenter T. Healthcare Resource Use Associated With Tumor-Induced Osteomalacia: A Literature Review. The Journal Of Clinical Endocrinology & Metabolism 2024, 110: 102-113. PMID: 38913723, PMCID: PMC11651676, DOI: 10.1210/clinem/dgae431.Peer-Reviewed Original ResearchTumor-induced osteomalaciaHealthcare resource useResection outcomesCase reportHigher probability of tumor recurrenceSecrete fibroblast growth factor 23Probability of tumor recurrenceAssociated with tumor-induced osteomalaciaFibroblast growth factor 23Symptoms to diagnosisHealthcare resource burdenTumor recurrenceParaneoplastic syndromeTumor resectionAssociated with greater usePharmacological treatmentDisease characteristicsImaging testsPatientsMusculoskeletal symptomsTargeted literature reviewResource useOrthopedic surgeryProgressive disabilityMean timeQuantitative correlation of ENPP1 pathogenic variants with disease phenotype
Ansh A, Stabach P, Ciccone C, Cao W, De La Cruz E, Sabbagh Y, Carpenter T, Ferreira C, Braddock D. Quantitative correlation of ENPP1 pathogenic variants with disease phenotype. Bone 2024, 186: 117136. PMID: 38806089, PMCID: PMC11227391, DOI: 10.1016/j.bone.2024.117136.Peer-Reviewed Original ResearchEctonucleotide pyrophosphatase/phosphodiesterase 1Pathogenic variantsDisease phenotypeEnzyme velocityCompound heterozygotesEnzyme activityVariable enzyme activityAutosomal dominant phenotypeHigh-throughput assayAutosomal recessive formInnate immune responseENPP1 variantsDamaging variantsENPP1 deficiencyCole diseaseDominant phenotypeAutosomal dominant diseaseCatalytic velocityRecessive formEnzymePhenotypeWT levelsBio-active moleculesClinical phenotypeDominant diseaseImpact 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
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