2022
Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults
Ansh A, Nester C, O'Brien C, Stabach P, Murtada S, Lester E, Khursigara G, Molloy L, Carpenter T, Ferreira C, Braddock D. Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults. The FASEB Journal 2022, 36 DOI: 10.1096/fasebj.2022.36.s1.r5311.Peer-Reviewed Original ResearchENPP1 deficiencyQuality of lifeMusculoskeletal complicationsReplacement therapyBrief Pain Inventory-Short FormPhysical Function Short FormAchilles tendon calcificationHealth-related qualityMajority of patientsCervical spine fusionPresence of enthesopathyAnalgesic medicationRegular chowResidual painAdult patientsDose escalationPhysical functionCardiovascular calcificationTendon calcificationAchilles tendonSpine fusionMurine modelHypophosphatemic ricketsEnzyme replacementPatients
2020
OR29-06 Burosumab Improves Biochemical, Skeletal, and Clinical Features of Tumor-Induced Osteomalacia Syndrome
Carpenter T, Miller P, Weber T, Peacock M, Insogna K, Kumar R, Luca D, Cimms T, Roberts M, de Beur S. OR29-06 Burosumab Improves Biochemical, Skeletal, and Clinical Features of Tumor-Induced Osteomalacia Syndrome. Journal Of The Endocrine Society 2020, 4: or29-06. PMCID: PMC7208350, DOI: 10.1210/jendso/bvaa046.403.Peer-Reviewed Original ResearchTumor-induced osteomalaciaCutaneous skeletal hypophosphatemia syndromeSerious adverse eventsAdverse eventsSerum phosphorusBone biopsyPhysical functioningMean physical component summary scoreOpen-label phase 2 studyPhysical component summary scoreOsteoid volume/bone volumeSurface/bone surfaceProximal muscle functionBrief Pain InventoryOsteoid surface/bone surfacePhase 2 studyComponent summary scoresTmP/GFRCrest bone biopsiesRenal phosphate wastingHuman monoclonal antibodyMineralization lag timeQuality of lifeExcess FGF23Bone scan