TY - JOUR
T1 - Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy
AU - Roy, Bhaskar
AU - Peck, Allison
AU - Evangelista, Teresinha
AU - Pfeffer, Gerald
AU - Wang, Leo
AU - Diaz-Manera, Jordi
AU - Korb, Manisha
AU - Wicklund, Matthew P.
AU - Milone, Margherita
AU - Freimer, Miriam
AU - Kushlaf, Hani
AU - Villar-Quiles, Rocio Nur
AU - Stojkovic, Tanya
AU - Needham, Merrilee
AU - Palmio, Johanna
AU - Lloyd, Thomas E.
AU - Keung, Benison
AU - Mozaffar, Tahseen
AU - Weihl, Conrad Chris
AU - Kimonis, Virginia
N1 - Funding Information:
Bhaskar Roy has served as a consultant for Alexion Pharmaceuticals, now part of AstraZeneca, Takeda Pharmaceuticals and Argenx. No direct conflicts related to this work. Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Johanna Palmio, Virginia Kimonis does not have any conflicts of interest to disclose. Jordi Diaz‐Manera has served on advisory boards for Sanofi‐Genzyme, Sarepta, Amicus, Lupin, Astellas and Jansen. He has received payments for presenting in conferences by Sanofi‐Genzyme, Amicus and Sarepta. He has received funding for research by Spark, Sanofi‐Genzyme and Boehringer‐Ingelheim. Manisha Korb has served on advisory boards and the speakers bureau for Biogen. Matthew Wicklund, MD has no conflicts as relates to this manuscript; Unrelated to this manuscript: Research funding from Alexion, Edgewise, Acceleron, Avidity, Orphazyme, Sarepta, ML Bio, Roche, Avidity, Harmony; Served on advisory boards for Amicus, Edgewise, ML Bio, Sanofi‐Genzyme, Sarepta, Spark; No employment for or stock in any pharmaceutical company Margherita Milone has received research support from the Neurology Department and Center for Clinical and Translational Science, care center grant award from the Muscular Dystrophy Association (MDA 497263), and compensation to serve as associate editor of Neurology Genetics. Miriam Freimer has served on the advisory boards for UCB, Argenx, Alexion, CSL Behring, Takeda. Dr. Freimer receives research support from Amicus, Orphazyme, Catalyst, Fulcrum, Ionis, Momenta, Roche, UCB. Merrilee Needham has received honoraria for participation in educational events and Advisory Boards for Biogen, Roche, Sanofi‐Aventis and Abcuro. None of these were related to this Manuscript. Thomas E. Lloyd has received consulting fees or research support from Aavogen, Abata Therapeutics, Abcuro, Acceleron, DrenBio, EMD Serano, Kezar Life Sciences, Ono Pharma, Orphazyme, Pharnext, Regenecy, Sarepta, and Takeda. Benison Keung: No direct conflict of interest related to this study. Conrad Chris Weihl has served on advisory boards for Acceleron, Sarepta, Abata, and Orphazyme, and as a consultant for Sarepta. Tahseen Mozaffar has served in an advisory capacity for Abbvie, Alexion, Amicus, Argenx, Audentes, Maze Therapeutics, Modis, Momenta, Ra Pharmaceuticals, Sanofi‐Genzyme, Sarepta, Spark Therapeutics, UCB, and Ultragenyx. He serves on the speaker's bureau for Sanofi‐Genzyme. Dr. Mozaffar serves on the medical advisory board for the Myositis Association, Neuromuscular Disease Foundation, Myasthenia Gravis Foundation of California and Myasthenia Gravis Foundation of America. Dr. Mozaffar receives research funding from the Myositis Association, the Muscular Dystrophy Association, the National Institutes for Health and from the following sponsors: Alexion, Amicus, Argenx, Audentes, Bristol‐Myers‐Squib, Cartesian Therapeutics, Grifols, Momenta, Ra Pharmaceuticals, Sanofi‐Genzyme, Spark Therapeutics, UCB, and Valerion. He serves on the data safety monitoring board for Acceleron, Avexis, Sarepta, and the NIH.
Publisher Copyright:
© 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
PY - 2023/5
Y1 - 2023/5
N2 - 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 of VCP myopathy, and several working group sessions were conducted involving international experts to develop this provisional recommendation. VCP myopathy has a heterogeneous clinical phenotype and should be considered in patients with limb-girdle muscular dystrophy phenotype, or any myopathy with an autosomal dominant pattern of inheritance. Genetic testing is the only definitive way to diagnose VCP myopathy, and single-variant testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases can be considered. Muscle biopsy is important in cases of diagnostic uncertainty or lack of a definitive pathogenic genetic variant since rimmed vacuoles (present in ~40% cases) are considered a hallmark of VCP myopathy. Electrodiagnostic studies and magnetic resonance imaging can also help rule out disease mimics. Standardized management of VCP myopathy will optimize patient care and help future research initiatives.
AB - 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 of VCP myopathy, and several working group sessions were conducted involving international experts to develop this provisional recommendation. VCP myopathy has a heterogeneous clinical phenotype and should be considered in patients with limb-girdle muscular dystrophy phenotype, or any myopathy with an autosomal dominant pattern of inheritance. Genetic testing is the only definitive way to diagnose VCP myopathy, and single-variant testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases can be considered. Muscle biopsy is important in cases of diagnostic uncertainty or lack of a definitive pathogenic genetic variant since rimmed vacuoles (present in ~40% cases) are considered a hallmark of VCP myopathy. Electrodiagnostic studies and magnetic resonance imaging can also help rule out disease mimics. Standardized management of VCP myopathy will optimize patient care and help future research initiatives.
UR - http://www.scopus.com/inward/record.url?scp=85151984449&partnerID=8YFLogxK
U2 - 10.1002/acn3.51760
DO - 10.1002/acn3.51760
M3 - Review article
C2 - 37026610
AN - SCOPUS:85151984449
SN - 2328-9503
VL - 10
SP - 686
EP - 695
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
IS - 5
ER -