TY - JOUR
T1 - Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
AU - the VCP Standards of Care Working Group
AU - Korb, Manisha
AU - Peck, Allison
AU - Alfano, Lindsay N.
AU - Berger, Kenneth I.
AU - James, Meredith K.
AU - Ghoshal, Nupur
AU - Healzer, Elise
AU - Henchcliffe, Claire
AU - Khan, Shaida
AU - Mammen, Pradeep P.A.
AU - Patel, Sujata
AU - Pfeffer, Gerald
AU - Ralston, Stuart H.
AU - Roy, Bhaskar
AU - Seeley, William W.
AU - Swenson, Andrea
AU - Mozaffar, Tahseen
AU - Weihl, Conrad
AU - Kimonis, Virginia
AU - Fanganiello, Roberto
AU - Lee, Grace
AU - Mahoney, Ryan Patrick
AU - Diaz-Manera, Jordi
AU - Evangelista, Teresinha
AU - Freimer, Miriam
AU - Lloyd, Thomas E.
AU - Keung, Benison
AU - Kushlaf, Hani
AU - Milone, Margherita
AU - Needham, Merrilee
AU - Palmio, Johanna
AU - Stojkovic, Tanya
AU - Villar-Quiles, Rocío Nur
AU - Wang, Leo H.
AU - Wicklund, Matthew P.
AU - Singer, Frederick R.
AU - Jones, Mallory
AU - Miller, Bruce L.
AU - Ahmad Sajjadi, S.
AU - Obenaus, Andre
AU - Geschwind, Michael D.
AU - Al-Chalabi, Ammar
AU - Wymer, James
AU - Chen, Nita
AU - Kompoliti, Katie
AU - Wang, Stephani C.
AU - Boissoneault, Catherine A.
AU - Cruz-Coble, Betsaida
AU - Garand, Kendrea L.
AU - Rinholen, Anna J.
AU - Tabor-Gray, Lauren
AU - Rosenfeld, Jeffrey
AU - Guo, Ming
AU - Peck, Nathan
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85123905023&partnerID=8YFLogxK
U2 - 10.1186/s13023-022-02172-5
DO - 10.1186/s13023-022-02172-5
M3 - Review article
C2 - 35093159
AN - SCOPUS:85123905023
SN - 1750-1172
VL - 17
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 23
ER -