Provisional practice recommendation for the management of Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy myopathy in VCP-associated multisystem proteinopathy

Valosin-containing protein ( VCP )-associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety percent of patients with VCP-associated MSP have myopathy, but there is no consensus-based guideline. The goal of this working group was to develop a best practice set of provisional recommendations for VCP myopathy which can be easily implemented across the globe. As an initiative by Cure VCP Disease Inc., a patient advocacy organization, an online survey was initially conducted to identify the practice gaps in VCP myopathy. All prior published literature on VCP myopathy was reviewed to better understand the different aspects of management

[1]  Sruthi S. Nair,et al.  Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study , 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

[2]  V. Kimonis,et al.  Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis , 2022, Genes.

[3]  M. Raman,et al.  The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1) , 2022, Neurobiology of Disease.

[4]  W. Seeley,et al.  Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy , 2022, Orphanet Journal of Rare Diseases.

[5]  M. Monticone,et al.  Effect of Muscular Exercise on Patients With Muscular Dystrophy: A Systematic Review and Meta-Analysis of the Literature , 2020, Frontiers in Neurology.

[6]  J. Statland,et al.  Phenotypic diversity in an international Cure VCP Disease registry , 2020, Orphanet Journal of Rare Diseases.

[7]  S. Baker,et al.  Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation , 2020, Neuromuscular Disorders.

[8]  J. Vissing,et al.  Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies , 2020, Neurology.

[9]  C. Weihl.  Sporadic Inclusion Body Myositis and Other Rimmed Vacuolar Myopathies. , 2019, Continuum.

[10]  E. Mercuri,et al.  MYO-MRI diagnostic protocols in genetic myopathies , 2019, Neuromuscular Disorders.

[11]  P. Alves,et al.  Advanced MRI Patterns of Muscle Disease in Inherited and Acquired Myopathies: What the Radiologist Should Know , 2019, Seminars in Musculoskeletal Radiology.

[12]  Brian A. Maxwell,et al.  ULK1 and ULK2 Regulate Stress Granule Disassembly Through Phosphorylation and Activation of VCP/p97. , 2019, Molecular cell.

[13]  V. Kimonis,et al.  A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene , 2018, Neuromuscular Disorders.

[14]  T. Matsukawa,et al.  Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation , 2018, Neurobiology of Aging.

[15]  Vanessa M. Scarfone,et al.  Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery , 2017, PloS one.

[16]  Seward B. Rutkove,et al.  Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy , 2017, Annals of neurology.

[17]  Asan,et al.  Familial Early-Onset Paget’s Disease of Bone Associated with a Novel hnRNPA2B1 Mutation , 2017, Calcified Tissue International.

[18]  Prashant Mishra,et al.  Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants , 2017, eLife.

[19]  M. Povitz,et al.  Respiratory management of patients with neuromuscular disease: current perspectives , 2016, Degenerative neurological and neuromuscular disease.

[20]  J. Pedroso,et al.  One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia , 2016, Journal of the Neurological Sciences.

[21]  Lyell K. Jones,et al.  Clinical spectrum of valosin containing protein (VCP)‐opathy , 2016, Muscle & nerve.

[22]  C. Gilissen,et al.  Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders , 2016, European Journal of Human Genetics.

[23]  T. Yousry,et al.  MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study , 2016, The Lancet Neurology.

[24]  I. Illa,et al.  Muscle MRI in muscular dystrophies , 2015, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

[25]  A. Pestronk,et al.  SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles , 2015, Neurology.

[26]  K. Bushby,et al.  Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK , 2015, Journal of Neurology, Neurosurgery & Psychiatry.

[27]  Yaffa R Rubinstein,et al.  NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection. , 2015, Contemporary clinical trials.

[28]  Charles D. Smith,et al.  Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia , 2015, Journal of Genetic Counseling.

[29]  O. Hardiman,et al.  A multidisciplinary clinic approach improves survival in ALS: a comparative study of ALS in Ireland and Northern Ireland , 2014, Journal of Neurology, Neurosurgery & Psychiatry.

[30]  S. Blanton,et al.  A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. , 2014, Brain : a journal of neurology.

[31]  V. Kimonis,et al.  The Influence of Diet and Exercise on the Physical Health of Affected Individuals with VCP Disease , 2014 .

[32]  M. Versluis,et al.  Quantitative MRI and strength measurements in the assessment of muscle quality in Duchenne muscular dystrophy , 2014, Neuromuscular Disorders.

[33]  Lorne Zinman,et al.  Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis , 2014, Nature Neuroscience.

[34]  M. Benatar,et al.  Motor neuron involvement in multisystem proteinopathy , 2013, Neurology.

[35]  J. Platt,et al.  Genotype–phenotype studies of VCP‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia , 2013, Clinical genetics.

[36]  O. Bieri,et al.  Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy , 2013, Journal of Neurology.

[37]  S. Ajroud‐Driss,et al.  SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. , 2011, Archives of neurology.

[38]  V. Kimonis,et al.  Inclusion body myopathy with Paget disease of bone and frontotemporal dementia , 2011 .

[39]  Sonja W. Scholz,et al.  Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , 2010, Neuron.

[40]  V. Kimonis,et al.  Autosomal Dominant Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia , 2005, Alzheimer disease and associated disorders.

[41]  A. Wilkinson,et al.  AAA+ superfamily ATPases: common structure–diverse function , 2001, Genes to cells : devoted to molecular & cellular mechanisms.

[42]  J. Bronstein,et al.  Valosin-containing protein mutation and Parkinson's disease. , 2012, Parkinsonism & related disorders.

[43]  Kathryn Fitch,et al.  The RAND/UCLA Appropriateness Method User's Manual , 2001 .