Carolyn M. Macica
About
Biography
Carolyn M. Macica, MS, PhD is the Associate Director of Research Operations and Development at Connecticut Children’s Research Institute. She also maintains joint professor appointments at the Frank H. Netter School MD of Medicine and Yale University School of Medicine in the department of pharmacology. Dr. Macica has also served as a consultant for Ultragenyx in the identification of clinical endpoints for adult X-linked hypophosphatemia.
Dr. Macica has combined her commitment to medical education with a pursuit of excellence in basic, clinical and translational research in the domain of phosphate-wasting disorders. Her scholarship includes research presentations at international and national meetings and publications in peer-review medical journals. She was recently awarded the 2022 Faculty Scholars Award at Quinnipiac University for the demonstration of a high level of commitment to producing outstanding scholarship. Her lab has provided valuable insight into the pathogenesis of the bony abnormalities that dominate the clinical picture in adults with these disorders in murine models and in controlled-patient studies. She also mentors medical and graduate students who work with her in a range of scholarly domains. A hallmark of Dr. Macica’s work is in interprofessional research and mentorship with faculty and students from multiple healthcare professions.
Dr. Macica has extensive service to the institutes she serves, but also to the community, including the Yale Center for Research Engagement Steering Committee which supports multiple partnerships with the New Haven community. She is also the creator of funded STEM and mentoring programs for socio-economically-disadvantaged children. The program has been recognized by the Quinnipiac’s Inclusion and Diversity Council, The Petit Foundation and most recently, was recognized with the 2022 Paul C. Montana Service Award that honors an individual who displays exceptional commitment to the mission, values and vision of the schools she serves. In addition, Dr. Macica founded and annually executes an interprofessional Rare Disease Day Symposium, an event that showcases patients, advocates, clinicians and researchers and is supported by a generous endowment and is CME accredited. She also serves as the academic advisor for the student chapter of the National Organization for Rare Diseases (NORD).
As Chairperson of the Scientific Advisory Board (SAB) for the national patient advocacy and education organization, the XLH Network, Inc., she serves as an advocate and liaison between the executive board, the SAB and the XLH patient population. She has also developed and deployed multiple scholarly health communication documents for the patient/clinician portal.
Appointments
Pharmacology
Associate Professor AdjunctPrimary
Other Departments & Organizations
Education & Training
- Postdoctoral Fellowship
- Yale University School of Medicine
- Postdoctoral fellowship
- Yale University (2000)
Research
Research at a Glance
Yale Co-Authors
Publications Timeline
Steven Tommasini, PhD
Leonard Kaczmarek, PhD
Joshua VanHouten, PhD
Julie Rose Hens, PhD, MS, BA
Karl Insogna, MD, FACP
Meina Wang, PhD
Publications
2023
Biomechanical Impact of Phosphate Wasting on Articular Cartilage Using the Murine Hyp Model of X‐linked hypophosphatemia
Macica C, Tommasini S. Biomechanical Impact of Phosphate Wasting on Articular Cartilage Using the Murine Hyp Model of X‐linked hypophosphatemia. JBMR Plus 2023, 7: e10796. PMID: 37808393, PMCID: PMC10556269, DOI: 10.1002/jbm4.10796.Peer-Reviewed Original ResearchAltmetricConceptsWT miceHyp miceMechanical propertiesArticular cartilageTrabecular bone volumeProgression of osteoarthritisEtiology of osteoarthritisRange of motionSubchondral bone plateOral phosphateDegenerative osteoarthritisTibial articular cartilageDaily livingAC stiffnessBone volumeTherapeutic restorationOsteoarthritisStructural stiffnessCompressive loadingMicePeak loadTherapyCellular changesMineral deficitStress relaxation
2022
Suspected cholinergic toxicity due to cevimeline hydrochloride and Bacopa monnieri interaction: a case report
Acquarulo B, Tandon P, Macica C. Suspected cholinergic toxicity due to cevimeline hydrochloride and Bacopa monnieri interaction: a case report. Journal Of Medical Case Reports 2022, 16: 253. PMID: 35765109, PMCID: PMC9241182, DOI: 10.1186/s13256-022-03479-4.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsSjögren's syndromePossible drug-herb interactionsPrimary care officesDrug-herb interactionsST-T changesCevimeline hydrochlorideClinical improvementUndesirable side effectsUrinary retentionCase presentationACare officesCase reportCholinergic toxicityCaucasian femaleHerbal supplementsSide effectsClinical relevanceDrug responsivenessCommon genetic variantsSyndromeDrugsPrevious nightCytochrome P450Genetic variantsSupplementation interactionAn Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia
Kanamalla K, Fuchs R, Herzog C, Steigbigel K, Macica C. An Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia. Journal Of The Endocrine Society 2022, 6: bvac094. PMID: 35795809, PMCID: PMC9249973, DOI: 10.1210/jendso/bvac094.Peer-Reviewed Original ResearchCitationsAltmetricConceptsAdult disordersConsiderable physical disabilityLower extremity ROMPhosphate-wasting disordersPhysical therapy prescriptionPhysical therapy recommendationsPT programKinetic chain exercisesPatient-centered studiesMusculoskeletal comorbiditiesExercise modificationsPatient goalsTherapy prescriptionFunctional improvementTherapy recommendationsClinical studiesActive rangeDaily livingProgression statusFunctional abilityXLHPhysical disabilityMinimal improvementFunctional effectsHypophosphatemiaThe Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice
Macica CM, Luo J, Tommasini SM. The Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice. Calcified Tissue International 2022, 111: 313-322. PMID: 35618776, DOI: 10.1007/s00223-022-00989-7.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsUltimate strengthLoading conditionsMaximum strainNormal loading conditionsTensile testsMechanical propertiesTensile stiffnessWT miceHyp miceMechanical loadingMechanical stressBiomechanical testingSoft boneStiffnessBone matrixAlkaline phosphataseMajor comorbiditiesAchilles insertionClinical picturePhysical functionMechanical adaptationHyperplastic expansionMurine modelTriceps suraeStrength
2021
Creation of an Evidence-Based Physical Therapy Program for Adults with XLH: Translational Application of an Interprofessional Clinical Study
Kanamalla K, Fuchs R, Herzog C, Steigbigel K, Macica C. Creation of an Evidence-Based Physical Therapy Program for Adults with XLH: Translational Application of an Interprofessional Clinical Study. Journal Of The Endocrine Society 2021, 5: a260-a260. PMCID: PMC8089516, DOI: 10.1210/jendso/bvab048.528.Peer-Reviewed Original ResearchConceptsLower Extremity Functional ScaleBerg Balance ScaleBalance ScaleActivities-specific Balance Confidence ScaleLifelong metabolic diseasePT programBalance Confidence ScaleIntestinal phosphate absorptionPhysical therapy programMusculoskeletal comorbiditiesStandard therapyClinical pictureBalance exercisesDegenerative arthritisActive ROMLower extremitiesClinical studiesFunctional scalesDaily livingFunctional capacityFunctional abilityFunctional comorbiditiesTrunk swayAdult disordersMetabolic diseases
2020
Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed-Methods Study
Hughes M, Macica C, Meriano C, Doyle M. Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed-Methods Study. Journal Of Patient-Centered Research And Reviews 2020, 7: 176-188. PMID: 32377551, PMCID: PMC7197891, DOI: 10.17294/2330-0698.1727.Peer-Reviewed Original ResearchCitationsConceptsFunctional outcomePhysical findingsPhysical therapy assessmentBurden of diseaseMetabolic bone diseaseHealth care providersPhysical comorbiditiesDental abscessChronic painDegenerative arthritisProvider awarenessBone diseaseCare providersTherapy assessmentNew treatmentsPhysical debilitationOccupational therapyDiagnostic imagingXLHMixed-methods studyHypophosphatemiaPainAdulthoodDiseaseAdequate assessmentOsteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-linked Hypophosphatemia
Steele A, Gonzalez R, Garbalosa JC, Steigbigel K, Grgurich T, Parisi EJ, Feinn RS, Tommasini SM, Macica CM. Osteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2020, 105: dgaa064. PMID: 32047911, PMCID: PMC8416779, DOI: 10.1210/clinem/dgaa064.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsMusculoskeletal comorbiditiesGait analysisPassive ROMLifelong metabolic diseaseWeight-bearing jointsHealth care teamDiagnosis of XLHInterprofessional health care teamsKinematic gait analysisMusculoskeletal manifestationsClinical presentationMusculoskeletal disabilityDegenerative arthritisPhysical functionRadiologic imagingCervical spineGoniometric rangeDaily livingFunctional limitationsTrunk swayMetabolic diseasesMusculoskeletal functionAnkle jointSynovial jointsXLH
2019
The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
Skrinar A, Dvorak-Ewell M, Evins A, Macica C, Linglart A, Imel E, Theodore-Oklota C, San Martin J. The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey. Journal Of The Endocrine Society 2019, 3: 1321-1334. PMID: 31259293, PMCID: PMC6595532, DOI: 10.1210/js.2018-00365.Peer-Reviewed Original ResearchCitationsAltmetricConceptsPatient-reported outcomesActive vitamin DParents/caregiversVitamin DMean ageExcess fibroblast growth factor 23Joint pain/stiffnessFibroblast growth factor 23Pain/stiffnessGrowth factor 23History of fractureSubstantial disease burdenBurden of diseaseHuman monoclonal antibodyTibia/fibulaAssistive device useSymptom onsetFactor 23Spinal stenosisPhysical functionDisease burdenDisease manifestationsPhysical functioningCurrent treatmentAbnormal gait
2018
Joint replacement in X-linked hypophosphatemia
Mills E, Iorio L, Feinn R, Duignan K, Macica C. Joint replacement in X-linked hypophosphatemia. Journal Of Orthopaedics 2018, 16: 55-60. PMID: 30662239, PMCID: PMC6324762, DOI: 10.1016/j.jor.2018.12.007.Peer-Reviewed Original ResearchCitationsAltmetricConceptsMean followOsteoarthritis Outcome Score-Physical Function Short FormPhysical Function Short FormHOOS-PS scoresKOOS-PS scoresTotal knee arthroplastyTotal joint arthroplastyTotal hip arthroplastySevere degenerative osteoarthritisKnee arthroplastyPatient surveyDegenerative osteoarthritisJoint arthroplastyHip arthroplastyAseptic looseningJoint replacementArthroplastyPolyethylene wearHypophosphatemiaShort formFollowKneeScoresPatientsOsteoarthritisVibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia
Amenta E, King HE, Petermann H, Uskoković V, Tommasini SM, Macica CM. Vibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia. Therapeutic Advances In Chronic Disease 2018, 9: 268-281. PMID: 30719271, PMCID: PMC6348532, DOI: 10.1177/2040622318804753.Peer-Reviewed Original ResearchCitationsConceptsUnaffected controlsPhosphate-wasting disordersWild-type micePersistent osteomalaciaDegenerative arthritisPeriodontal diseasePrimary teethPermanent teethFemoral cortical boneAdult disordersNeutral endopeptidaseHyp miceBone remodelingBiochemical milieuXLHCommon formCortical boneUse of dentinHypophosphatemiaSignificant differencesTeethInactivating mutationBoneUnaffected individualsMice
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