2023
Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy
Boock V, Roy B, Pfeffer G, Kimonis V. Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy. Current Opinion In Neurology 2023, 36: 432-440. PMID: 37678339, DOI: 10.1097/wco.0000000000001184.Peer-Reviewed Original ResearchConceptsInclusion body myopathyPotential therapeutic targetValosin-containing proteinPaget's diseasePreclinical modelsTherapeutic approachesPotential therapyControl trialRare diseaseTherapeutic targetBody myopathyVivo modelFrontotemporal dementiaVCP mutationsMultisystem proteinopathyPathway involvementDiseaseTherapyMitochondrial dysfunctionTherapeutic developmentGene therapyMissense mutationsFunction activityATPase activityRCTs
2022
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet Journal Of Rare Diseases 2022, 17: 23. PMID: 35093159, PMCID: PMC8800193, DOI: 10.1186/s13023-022-02172-5.Peer-Reviewed Original ResearchConceptsStandard of careAmyotrophic lateral sclerosisCharcot Marie Tooth diseaseMultisystem proteinopathyFrontotemporal dementiaSupportive therapyValosin-containing proteinMarie Tooth diseaseExpert consensus recommendationsRare inherited disorderInclusion body myopathyMulti-gene panel sequencingSingle-gene testingNeuromuscular centerAppropriate pharmacotherapyMultidisciplinary carePaget's diseaseSecondary complicationsVCP diseaseMultisystem involvementMovement disordersPatient advocacy organizationsPhysical therapyPractice guidelinesConsensus recommendations