2021
Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia
Simpson C, Santoro A, Carpenter T, Insogna K. Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia. Journal Of The Endocrine Society 2021, 5: a27-a27. PMCID: PMC8089365, DOI: 10.1210/jendso/bvab048.052.Peer-Reviewed Original ResearchWeight/height z-scoreHeight z-scoreExcessive weight gainZ-scoreFibroblast growth factor 23Greater riskWeight gainRegular aerobic exerciseDirect pathogenic roleGrowth factor 23Impaired glucose metabolismVitamin D testingElderly normal individualsAbility of patientsAccelerated osteoarthritisAdult patientsPediatric patientsSerum levelsFactor 23Metabolic abnormalitiesAbnormal biomechanicsInsulin levelsAerobic exerciseInsulin sensitivityPathogenic roleNovel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype
Choksi I, Cox A, Robinson C, Bale A, Carpenter T. Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype. Osteoporosis International 2021, 32: 1239-1244. PMID: 33624138, DOI: 10.1007/s00198-021-05838-1.Peer-Reviewed Original ResearchConceptsVertebral compression fracturesNovel homozygous variantOsteogenesis imperfectaMultiple vertebral compression fracturesZ-scoreHomozygous variantBilateral tibial fracturesLumbar spine BMDTotal hip BMDEffectiveness of bisphosphonatesFemoral neck BMDHeight z-scoreHomozygous missense variantBroad phenotypic spectrumBisphosphonate therapyBP therapySpinal osteopeniaSymptomatic reliefClinical presentationRecurrent fracturesSpine BMDTibial fracturesCompression fracturesHip BMDNeck BMD
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
2019
Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score
Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen CY, Chang T, San Martin J, Carpenter TO. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. Bone 2019, 122: 76-81. PMID: 30772600, DOI: 10.1016/j.bone.2019.02.010.Peer-Reviewed Original ResearchConceptsRickets Severity ScoreSerum alkaline phosphataseSeverity scoreSevere self-reported painPediatric Outcomes Data Collection InstrumentPhase 2 clinical trialAlkaline phosphataseLess physical functionSelf-reported painSevere clinical featuresHeight z-scoreRadiographic Global ImpressionPediatric Orthopaedic SocietyIntra-rater reliabilitySubstantial inter-rater reliabilityClinical featuresClinical outcomesBilateral kneesGlobal ImpressionPhysical functionSubstantial intra-rater reliabilityWeek 64Clinical trialsBurosumab treatmentFunctional impairmentEfficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial
Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, Imel EA. Efficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial. The Lancet Diabetes & Endocrinology 2019, 7: 189-199. PMID: 30638856, DOI: 10.1016/s2213-8587(18)30338-3.Peer-Reviewed Original ResearchConceptsSerum phosphorus concentrationPhase 2 trialWeeks of treatmentAdverse eventsWeek 40Week 64Serum phosphorusPhosphatonin fibroblast growth factor 23Treatment-related adverse eventsFibroblast growth factor 23History of toothRickets Severity ScoreSafety of burosumabSerious adverse eventsInjection site reactionsKey secondary outcomesFavorable safety profileGrowth factor 23Severe food allergyHeight z-scoreKey inclusion criteriaRenal phosphate wastingHuman monoclonal antibodyRadiographic Global ImpressionYoung children