1 |
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
|
|
Korb, Manisha; Peck, Allison; Alfano, Lindsay N; Berger, Kenneth I; James, Meredith K; Ghoshal, Nupur; Healzer, Elise; Henchcliffe, Claire; Khan, Shaida; Mammen, Pradeep PA; Patel, Sujata; Pfeffer, Gerald; Ralston, Stuart H; Roy, Bhaskar; Seeley, William W; Swenson, Andrea; Mozaffar, Tahseen; Weihl, Conrad; Kimonis, Virginia; VCP Standards of Care Working Group
|
|
In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
|
|
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.
|
|
Keyword:
2.1 Biological and endogenous factors; Amyotrophic Lateral Sclerosis; Brain Disorders; Cell Cycle Proteins; Clinical Research; Genetics & Heredity; Humans; Inclusion Body; Mutation; Myositis; Neurodegenerative; Neurological; Neurosciences; Osteitis Deformans; Other Medical and Health Sciences; Rare Diseases; Standard of Care; Valosin Containing Protein; VCP Standards of Care Working Group
|
|
URL: https://escholarship.org/uc/item/8mb0b802
|
|
BASE
|
|
Hide details
|
|
3 |
International Faculty's Perspectives on Organizational Culture and Management: A Three-Step Action Plan ...
|
|
|
|
BASE
|
|
Show details
|
|
4 |
International Faculty's Perspectives on Organizational Culture and Management: A Three-Step Action Plan ...
|
|
|
|
BASE
|
|
Show details
|
|
5 |
Proceedings of the International Conference on "Minority languages spoken or signed and inclusive spaces" ...
|
|
|
|
BASE
|
|
Show details
|
|
6 |
Proceedings of the International Conference on "Minority languages spoken or signed and inclusive spaces" ...
|
|
|
|
BASE
|
|
Show details
|
|
7 |
Members of the Polish Language Council on the Problems of Linguistic Diversity and Linguistic Inclusion in Poland
|
|
|
|
In: Social Inclusion ; 9 ; 1 ; 63-74 ; Social Inclusion and Multilingualism: The Impact of Linguistic Justice, Economy of Language and Language Policy (2022)
|
|
BASE
|
|
Show details
|
|
8 |
Towards Inclusion in Spanish Higher Education: Understanding the Relationship between Identification and Discrimination
|
|
|
|
In: Social Inclusion ; 9 ; 3 ; 81-93 ; Inclusive Universities in a Globalized World (2022)
|
|
BASE
|
|
Show details
|
|
9 |
Social Inclusion and Multilingualism: Linguistic Justice and Language Policy
|
|
|
|
In: Social Inclusion ; 9 ; 1 ; 1-4 ; Social Inclusion and Multilingualism: The Impact of Linguistic Justice, Economy of Language and Language Policy (2022)
|
|
BASE
|
|
Show details
|
|
10 |
What Constitutes a Local Public Sphere? Building a Monitoring Framework for Comparative Analysis
|
|
|
|
In: Media and Communication ; 9 ; 3 ; 85-96 ; Spaces, Places, and Geographies of Public Spheres (2022)
|
|
BASE
|
|
Show details
|
|
11 |
Two Linguas Francas? Social Inclusion through English and Esperanto
|
|
|
|
In: Social Inclusion ; 9 ; 1 ; 75-84 ; Social Inclusion and Multilingualism: The Impact of Linguistic Justice, Economy of Language and Language Policy (2022)
|
|
BASE
|
|
Show details
|
|
12 |
Relational Communication Spaces: Infrastructures and Discursive Practices
|
|
|
|
In: Media and Communication ; 9 ; 3 ; 28-39 ; Spaces, Places, and Geographies of Public Spheres (2022)
|
|
BASE
|
|
Show details
|
|
13 |
Multilingualism and Social Inclusion in Scotland: Language Options and Ligatures of the "1+2 Language Approach"
|
|
|
|
In: Social Inclusion ; 9 ; 1 ; 14-23 ; Social Inclusion and Multilingualism: The Impact of Linguistic Justice, Economy of Language and Language Policy (2022)
|
|
BASE
|
|
Show details
|
|
14 |
Towards Portuguese Sign Language Identification Using Deep Learning
|
|
|
|
BASE
|
|
Show details
|
|
15 |
CLIL as an inclusive approach. a didactic proposal to attend to diversity
|
|
|
|
BASE
|
|
Show details
|
|
16 |
Understanding cyberslacking intention during Covid-19 online classes: An fsQCA analysis
|
|
|
|
BASE
|
|
Show details
|
|
17 |
How can we recruit more men of African or African-Caribbean ancestry into our research? Co-creating a video to raise awareness of prostate cancer risk and the PROFILE study
|
|
|
|
BASE
|
|
Show details
|
|
18 |
La inclusividad lingüística en la educación multilingüe de California: coexistencia de las variedades y registros de lengua para enriquecer el aula de inmersión dual
|
|
|
|
BASE
|
|
Show details
|
|
19 |
Effects of Social Stories on Increasing Social Interaction and Engagement of Deaf and Hard of Hearing Students with Autism Spectrum Disorder in Inclusive Settings
|
|
|
|
In: UNF Faculty Publications (2022)
|
|
BASE
|
|
Show details
|
|
20 |
Welcoming and Inclusive Farmers Markets: A Community of Practice to Encourage Diversity, Equity, and Inclusion
|
|
|
|
In: Outcomes and Impact Quarterly (2022)
|
|
BASE
|
|
Show details
|
|
|
|