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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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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
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In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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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.
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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
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URL: https://escholarship.org/uc/item/8mb0b802
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| 2 |
The Genetics of Primary Ciliary Dyskinesia in Puerto Rico
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In: Diagnostics; Volume 12; Issue 5; Pages: 1127 (2022)
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Heritable changeability: Epimutation and the legacy of negative definition in epigenetic concepts
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In: ISSN: 0039-3681 ; Studies in History and Philosophy of Science Part A ; https://hal.archives-ouvertes.fr/hal-03464083 ; Studies in History and Philosophy of Science Part A, Elsevier, 2021, 86, pp.35 - 46. ⟨10.1016/j.shpsa.2020.12.006⟩ (2021)
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Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology ...
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| 5 |
The strength of morphophonological schemas: Consonant mutations in Polish
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In: Glossa: a journal of general linguistics; Vol 6, No 1 (2021); 25 ; 2397-1835 (2021)
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| 6 |
Artificial Intelligence, Machine Learning and Deep Learning in Ion Channel Bioinformatics
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In: Membranes ; Volume 11 ; Issue 9 (2021)
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Contemporary ghosts, moult of the novel ; Fantasmas contemporáneos, muda de la novela ; Fantômes contemporains, mue du roman
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In: Scientific Journal on Cultural Hybridizations and Migrants’ Identities; Núm. 2: ; 81-102 ; Revista científica sobre hibridaciones culturales e identidades migrantes; Núm. 2: ; Revue scientifique sur les hybridations culturelles et les identités migrantes; Núm. 2: ; 2660-6259 (2021)
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| 8 |
Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology
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| 9 |
Category-specific effects in Welsh mutation
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In: Glossa: a journal of general linguistics; Vol 5, No 1 (2020); 1 ; 2397-1835 (2020)
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| 10 |
Phonological contrast and phonetic variation : the case of velars in Iwaidja
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| 11 |
The inconspicuous substratum : Indigenous Australian languages and the phonetics of stop contrasts in English on Croker Island
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| 12 |
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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| 13 |
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
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| 14 |
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
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In: American journal of human genetics, vol. 105, no. 5, pp. 907-920 (2019)
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| 15 |
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018)
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| 16 |
The Historical Origin of Consonant Mutation in the Atlantic Languages
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In: Merrill, John Thomas Mayfield. (2018). The Historical Origin of Consonant Mutation in the Atlantic Languages. UC Berkeley: Linguistics. Retrieved from: http://www.escholarship.org/uc/item/1qn4m0bh (2018)
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| 17 |
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease
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In: International Journal of Molecular Sciences ; Volume 19 ; Issue 9 (2018)
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| 20 |
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
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In: Genetics in medicine, vol. 20, no. 7, pp. 778-784 (2018)
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