Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy


Clinical Management

Poster Number: 24


Manisha Korb, MD, University of California, Irvine, Allison Peck, Cure VCP Disease, Lindsay Alfano, DPT, PCS, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Kenneth I. Berger, MD, NYU Grossman School of Med and André Cournand Pulmonary Physiology Laboratory, New York, USA, Meredith James, BAppSci, John Walton Muscular Dystrophy Research Centre, Nupur Ghoshal, MD, PhD, Washington University, St. Louis, Elise Healzer, MA, LMFT, Thriving Hope Consulting, Claire Henchcliffe, MD, PhD, University of California, Irvine, Shaida Khan, DO, University of Texas, Southwestern, Pradeep Mammen, MD, University of Texas, Southwestern, Sujata Patel, RhP, LFMP, Cure VCP Disease, Gerald Pfeffer, MD, PhD, University of Calgary, Stuart Ralston, MD, PRCP, University of Edinburgh, Bhaskar Roy, MD, Yale, William Seeley, MD, University of California, San Francisco, Andrea Swenson, MD, University of Iowa, Tahseen Mozaffar, MD, University of California, Irvine, CA, USA, Conrad Weihl, MD, PhD, Washington University School of Medicine, St. Louis, Virginia Kimonis, MD, MRCP, University of California, Irvine

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.