2025
X-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 variantsX-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 certaintySAT-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 wasting
2020
X-linked Hypophosphatemia (XLH): Burosumab Significantly Improved Rickets and Standing Height Z-Score Compared with Conventional Therapy in Children with XLH
Hart M, Olear E, Chen A, Couto I, Imel E, Carpenter T, Dahir K, Black M. X-linked Hypophosphatemia (XLH): Burosumab Significantly Improved Rickets and Standing Height Z-Score Compared with Conventional Therapy in Children with XLH. Journal Of Pediatric Nursing 2020, 52: 111. DOI: 10.1016/j.pedn.2020.02.025.Peer-Reviewed Original Research
2015
Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease
Connor J, Olear EA, Insogna KL, Katz L, Baker S, Kaur R, Simpson CA, Sterpka J, Dubrow R, Zhang JH, Carpenter TO. Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. The Journal Of Clinical Endocrinology & Metabolism 2015, 100: 3625-3632. PMID: 26176801, PMCID: PMC4596038, DOI: 10.1210/jc.2015-2199.Peer-Reviewed Original ResearchConceptsSevere dental diseaseHospital research unitDental diseaseDisease severityXLH patientsMajor long-term morbidityActive vitamin D metaboliteAdult XLH patientsLong-term morbidityVitamin D metabolitesAdult lifeMultiple logistic regressionRadiographic skeletal surveySignificant predictorsProportion of adultsConventional therapyD metabolitesSkeletal surveyLower riskExposure variablesLogistic regressionDiseaseEnthesopathySkeletal deformitiesTreatment variables
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