Journal article
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Orphanet journal of rare diseases, Vol.17(1), pp.23-23
01/29/2022
DOI: 10.1186/s13023-022-02172-5
PMCID: PMC8800193
PMID: 35093159
Abstract
Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget's disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, working groups collaborated to generate expert consensus recommendations in 10 key areas: genetic diagnosis, myopathy, FTD, PDB, ALS, Charcot Marie Tooth disease (CMT), parkinsonism, cardiomyopathy, pulmonology, supportive therapies, nutrition and supplements, and mental health. In April 2021, facilitated discussion of each working group's conclusions with consensus building techniques enabled final agreement on the proposed standard of care for VCP patients. Timely referral to a specialty neuromuscular center is recommended to aid in efficient diagnosis of VCP MSP via single-gene testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases. Additionally, regular and ongoing multidisciplinary team follow up is essential for proactive screening and management of secondary complications. The goal of our consortium is to raise awareness of VCP MSP, expedite the time to accurate diagnosis, define gaps and inequities in patient care, initiate appropriate pharmacotherapies and supportive therapies for optimal management, and elevate the recommended best practices guidelines for multidisciplinary care internationally.
Details
- Title: Subtitle
- Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
- Creators
- Manisha Korb - OrangeAllison Peck - Cure VCP Disease, Americus, GA, USA.Lindsay N Alfano - Nationwide Children's HospitalKenneth I Berger - New York UniversityMeredith K James - Newcastle upon Tyne Hospitals NHS Foundation TrustNupur Ghoshal - Washington University in St. LouisElise Healzer - Thriving Hope Consulting, Vinton, IA, USA.Claire Henchcliffe - University of California, IrvineShaida Khan - The University of Texas Southwestern Medical CenterPradeep P A Mammen - The University of Texas Southwestern Medical CenterSujata Patel - Wellness with Sujata, Wadsworth, OH, USA.Gerald Pfeffer - University of CalgaryStuart H Ralston - Cancer Research UK Edinburgh CentreBhaskar Roy - Yale UniversityWilliam W Seeley - University of California, San FranciscoAndrea Swenson - University of IowaTahseen Mozaffar - University of California, IrvineConrad Weihl - Washington University in St. LouisVirginia Kimonis - University of California, IrvineVCP Standards of Care Working Group
- Resource Type
- Journal article
- Publication Details
- Orphanet journal of rare diseases, Vol.17(1), pp.23-23
- DOI
- 10.1186/s13023-022-02172-5
- PMID
- 35093159
- PMCID
- PMC8800193
- ISSN
- 1750-1172
- eISSN
- 1750-1172
- Grant note
- MR/L501529/1 / Medical Research Council ALCHALABI-TALBOT/APR14/926-794 / Motor Neurone Disease Association MR/R024804/1 / Medical Research Council R01AR074457 / NIH HHS UL1 TR001414 / NCATS NIH HHS UL1 TR001863 / NCATS NIH HHS G0600974 / Medical Research Council P50HD087351 / NIH HHS ALCHALABI-DOBSON/APR14/829-791 / Motor Neurone Disease Association
- Language
- English
- Date published
- 01/29/2022
- Academic Unit
- Neurology
- Record Identifier
- 9984303022102771
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