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

Manisha Korb; Allison Peck; Lindsay N Alfano; Kenneth I Berger; Meredith K James; Nupur Ghoshal; Elise Healzer; Claire Henchcliffe; Shaida Khan; Pradeep P A Mammen; Sujata Patel; Gerald Pfeffer; Stuart H Ralston; Bhaskar Roy; William W Seeley; Andrea Swenson; Tahseen Mozaffar; Conrad Weihl; Virginia Kimonis; VCP Standards of Care Working Group

doi:10.1186/s13023-022-02172-5

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

Journal article

Open access

Peer reviewed

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

Manisha Korb, Allison Peck, Lindsay N Alfano, Kenneth I Berger, Meredith K James, Nupur Ghoshal, Elise Healzer, Claire Henchcliffe, Shaida Khan, Pradeep P A Mammen, …

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

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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.

Amyotrophic Lateral Sclerosis - genetics

Cell Cycle Proteins - genetics

Humans

Mutation

Myositis, Inclusion Body

Osteitis Deformans - genetics

Standard of Care

Valosin Containing Protein - genetics

Details

Title: Subtitle: Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Creators: Manisha Korb - Orange
Allison Peck - Cure VCP Disease, Americus, GA, USA.
Lindsay N Alfano - Nationwide Children's Hospital
Kenneth I Berger - New York University
Meredith K James - Newcastle upon Tyne Hospitals NHS Foundation Trust
Nupur Ghoshal - Washington University in St. Louis
Elise Healzer - Thriving Hope Consulting, Vinton, IA, USA.
Claire Henchcliffe - University of California, Irvine
Shaida Khan - The University of Texas Southwestern Medical Center
Pradeep P A Mammen - The University of Texas Southwestern Medical Center
Sujata Patel - Wellness with Sujata, Wadsworth, OH, USA.
Gerald Pfeffer - University of Calgary
Stuart H Ralston - Cancer Research UK Edinburgh Centre
Bhaskar Roy - Yale University
William W Seeley - University of California, San Francisco
Andrea Swenson - University of Iowa
Tahseen Mozaffar - University of California, Irvine
Conrad Weihl - Washington University in St. Louis
Virginia Kimonis - University of California, Irvine
VCP 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
NLM abbreviation: Orphanet J Rare Dis
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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