2024
Item Response Theory Quantifies the Relationship Between Improvements in Serum Phosphate and Patient‐Reported Outcomes in Adults With X‐Linked Hypophosphatemia
Mehta K, Gosselin N, Insogna K, Barriere O, Quattrocchi E, Hruska M, Marsteller D. Item Response Theory Quantifies the Relationship Between Improvements in Serum Phosphate and Patient‐Reported Outcomes in Adults With X‐Linked Hypophosphatemia. Clinical Pharmacology & Therapeutics 2024, 116: 1343-1351. PMID: 39129452, DOI: 10.1002/cpt.3406.Peer-Reviewed Original ResearchPatient-reported outcomesPatient-reported outcome dataX-linked hypophosphatemiaItem response theory parametersBrief Fatigue Inventory scoreSerum phosphateWestern Ontario and McMaster Universities Osteoarthritis IndexTreatment-induced improvementMcMaster Universities Osteoarthritis IndexTreatment response biomarkersBrief Pain InventoryInventory scoresAssociated with improvementsPain InventoryOsteoarthritis IndexTreatment optimization strategiesDisability scoresPopulation pharmacokinetic-pharmacodynamic modelPhase III studySerum phosphate levelsRare bone diseasesExposure metricsPharmacokinetic-pharmacodynamic modelLongitudinal dataIII studies
2022
Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
Weber TJ, Imel EA, Carpenter TO, Peacock M, Portale AA, Hetzer J, Merritt JL, Insogna K. Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2022, 108: 155-165. PMID: 36072994, PMCID: PMC9759172, DOI: 10.1210/clinem/dgac518.Peer-Reviewed Original ResearchConceptsSerum phosphate levelsPatient-reported outcomesNormal rangeBurosumab therapyTreatment optionsEffective long-term treatment optionLong-term extension studyLong-term treatment optionNew safety findingsBone turnover markersLong-term administrationPhosphate levelsRespective normal rangesProportion of subjectsLong-term safetyLast doseAdult patientsClinical responseSafety findingsTurnover markersSerum phosphateBone biomarkersStudy endWeek 12Burosumab treatment
2014
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis. Journal Of The American Society Of Nephrology 2014, 25: 2366-2375. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/asn.2013101085.Peer-Reviewed Original ResearchConceptsIdiopathic hypercalciuriaDecreased tubular reabsorption of phosphateIncreased risk of kidney stone formationSerum 1,25(OH)2 vitamin DTubular reabsorption of phosphateAssociated with kidney stonesVitamin D levelsSolute carrier family 34Renal phosphate wastingDecreased serum phosphateHereditary hypophosphatemic ricketsHealthy family membersReabsorption of phosphateRisk of kidney stone formationRickets/osteomalaciaDecreased tubular reabsorptionKidney stone formationSLC34A3 mutationsIndependent of genotypeMedullary nephrocalcinosisSerum phosphateVitamin DDependent phosphate cotransporterTubular reabsorptionD levels
1992
A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets
Sullivan W, Carpenter T, Glorieux F, Travers R, Insogna K. A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets. The Journal Of Clinical Endocrinology & Metabolism 1992, 75: 879-885. PMID: 1517380, DOI: 10.1210/jcem.75.3.1517380.Peer-Reviewed Original ResearchConceptsSymptomatic adultsOral phosphateOsteoid volumeCessation of therapyUrinary calcium excretionSymptomatic adult patientsMean serum phosphateDihydroxyvitamin D3 therapyMineral apposition rateCalcium excretionD3 therapyRenal insufficiencyTertiary hyperparathyroidismAdult patientsDrug regimenJoint painMost patientsPretreatment serumProspective trialClinical courseSerum phosphateSymptom scoresBone biopsyCombined administrationCurrent treatment
1981
Effect of Age on Serum Immunoreactive Parathyroid Hormone and Its Biological Effects*
INSOGNA K, LEWIS A, LIPINSKI B, BRYANT C, BARAN D. Effect of Age on Serum Immunoreactive Parathyroid Hormone and Its Biological Effects*. The Journal Of Clinical Endocrinology & Metabolism 1981, 53: 1072-1075. PMID: 6270181, DOI: 10.1210/jcem-53-5-1072.Peer-Reviewed Original ResearchConceptsIPTH levelsElderly subjectsTubular maximum phosphate reabsorptionImmunoreactive parathyroid hormone levelsSerum immunoreactive parathyroid hormoneImmunoreactive parathyroid hormoneParathyroid hormone levelsBiological effectsCreatinine clearanceEffect of ageNephrogenous cAMPUrinary calciumCreatinine ratioSerum phosphateParathyroid hormoneBone lossCalcium ingestionBone resorptionPhosphate reabsorptionHormone levelsHealthy volunteersSignificant negative correlationSignificant positive correlationIPTHOlder volunteers