2025
Advancing 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 disturbances
2020
New Therapies for Hypophosphatemia-Related to FGF23 Excess
Athonvarangkul D, Insogna KL. New Therapies for Hypophosphatemia-Related to FGF23 Excess. Calcified Tissue International 2020, 108: 143-157. PMID: 32504139, DOI: 10.1007/s00223-020-00705-3.BooksConceptsTumor-induced osteomalaciaCutaneous skeletal hypophosphatemia syndromeEpidermal nevus syndromeAutosomal dominant hypophosphatemic ricketsAutosomal recessive hypophosphatemic ricketsHypophosphatemic ricketsForms of FGF23Treatment of XLHActive comparator trialsMainstay of therapyMonoclonal blocking antibodyNew treatment modalitiesMcCune-Albright syndromeRenal phosphate wastingRecessive hypophosphatemic ricketsDominant hypophosphatemic ricketsFGF23 excessComparator trialsSkeletal complicationsChronic hypophosphatemiaMusculoskeletal syndromeOngoing trialsClinical presentationTreatment modalitiesClinical trials
2019
Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X‐Linked Hypophosphatemia: A Phase 3, Single‐Arm, International Trial
Insogna KL, Rauch F, Kamenický P, Ito N, Kubota T, Nakamura A, Zhang L, Mealiffe M, San Martin J, Portale AA. Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X‐Linked Hypophosphatemia: A Phase 3, Single‐Arm, International Trial. Journal Of Bone And Mineral Research 2019, 34: 2183-2191. PMID: 31369697, PMCID: PMC6916280, DOI: 10.1002/jbmr.3843.Peer-Reviewed Original ResearchConceptsAdverse eventsWeek 48Fracture healingMore treatment-emergent adverse eventsTreatment-emergent adverse eventsProcedure-related adverse eventsOsteoid volume/bone volumeMost adverse eventsSerious adverse eventsTransiliac bone biopsiesSerum phosphorus concentrationPoor bone qualityRenal phosphate reabsorptionHuman monoclonal antibodyBone painPersistent osteomalaciaSubcutaneous burosumabPrimary endpointSkeletal complicationsAtraumatic fracturesChronic hypophosphatemiaSerum phosphorusDihydroxyvitamin DBone turnoverBone biopsy
2017
Overview of Phosphorus-Wasting Diseases and Need for Phosphorus Supplements
Macica C. Overview of Phosphorus-Wasting Diseases and Need for Phosphorus Supplements. 2017, 185-200. DOI: 10.1201/9781315119533-14.Peer-Reviewed Original ResearchPhosphate-wasting disordersTumor-induced osteomalaciaTypical Western dietTotal body phosphorusNet intestinal absorptionIntestinal absorptionModerate hypophosphatemiaChronic casesWestern dietRenal phosphate-wasting disordersOral phosphate saltsRenal phosphate wastingSevere hypophosphatemiaChronic hypophosphatemiaMuscle painRenal functionBody phosphorusClinical presentationMetabolic disturbancesSuch therapyPhosphate wastingBone diseaseHigh-protein foodsPediatric disordersDietary load
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 phosphate
2013
Chapter 16 Phosphatonins
Tebben P, Berndt T, Kumar R. Chapter 16 Phosphatonins. 2013, 373-390. DOI: 10.1016/b978-0-12-415853-5.00016-9.ChaptersMatrix extracellular phosphoglycoproteinSecreted frizzled-related protein 4Skeletal mineralizationAssociated with abnormal mineralizationActive vitamin D metaboliteFrizzled-related protein 4Fibroblast growth factor 23Vitamin D metabolitesRenal phosphate reabsorptionIntestinal phosphate absorptionPhosphaturic peptidesParathyroid hormoneD metabolitesChronic hypophosphatemiaPhosphate reabsorptionAbnormal mineralizationProtein 4Phosphorus homeostasisPhosphate homeostasisBone mineralizationEnergy homeostasisCell membrane integrityFGF23Phosphate absorption
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