International Meeting Date
Friday, April 9 at 10:00 AM - 1:00 PM ET
Project Scope:
Establishing a Standard of Care through Expert Consensus
Need:
Because this condition is ultra-rare with disparate phenotypes, patients will see a multitude of doctors, some of whom might only see one VCP patient. The diagnosis, treatment and management of each patient is dependent upon each provider’s independent knowledge
Plan:
1. Survey a multitude of clinicians.
2. Divide the condition into different domains with a group of experts for each domain.
3. Hold a virtual meeting on April 9, 2020 where each expert or expert panel presents (10-20 minutes per domain).
4. Publish results of meeting in a medical journal with all participants acknowledged as authors or working group according to medical journal's guidelines.
5. Distribute and publicize the publication to patients and physicians through the Cure VCP Disease network.
Guidance :
Written segments will include:
-
some background
-
overview of the symptoms
-
incidence/ prevalence
-
diagnostic testing
-
management/surveillance
-
future directions/ clinical trials
Standard of Care Leadership Team
Manisha K. Korb, MD
University of California-Irvine
Assistant Professor at University of California-Irvine, Department of Neurology
Virginia Kimonis, MD
University of California-Irvine
Professor and Clinical Geneticist-Scientist at University of California-Irvine, Department of Pediatrics
Tahseen Mozaffar, MD, PhD
University of California-Irvine
Professor of Neurology and Orthopaedic Surgery, Director of UC Irvine-MDA ALS and Neuromuscular Center and Neuromuscular Program More Info
Chris Weihl, MD, PhD
Washington University -St. Louis
Expert Working Groups:
Genetic diagnosis / counseling:
Gerald Pfeffer, Roberto Fanganiello, Virginia Kimonis, Grace Lee, Ryan Mahoney, Elizabeth Healzer
Myopathy:
Bhaskar Roy, Tom Lloyd, Virginia Kimonis, Gerald Pfeffer, Johanna Palmio, Chris Weihl , Manisha Korb, Rolf Schröder, Jordi Diaz-Manera, Matt Wicklund, Nur Villar, Merille Needham, Tanya Stojkovic, Miriam Freimer, Teresinha Evangelista, Margherita Milone, Leo Wang, Hani Kushlaf
Frontotemporal Dementia (FTD):
Bill Seeley, Nupur Ghoshal, Seyed Ahmad Sajjadi, Andre Obenaus, Michael Geschwind
Paget's disease of bone (PDB):
Frederick Singer, Stuart Ralston, Michael Whyte
Amyotrophic lateral sclerosis (ALS):
Andrea Swenson, James Wymer, Shaida Khan, Tom Lloyd, Zachary Simmons, Ammar Al-Chalabi, Leonard van den Berg
Charcot-Marie-Tooth disease (CMT):
James Wymer, Tom Lloyd, Andrea Swenson, Tanya Stojkovic
Parkinsonism / Parkinson's Disease (PD):
Claire Henchcliffe, Nita Chen, Katie Kompoliti
Cardiomyopathy:
Shaida Khan, Pradeep Mammen, Virginia Kimonis, Stephani Wang
Pulmonary/ Respiratory therapy:
Tahseen Mozzaffar, Ken Berger
PT/ OT/ assistive and orthotic devices:
Lindsay Alfano, Meredith James, Betsaida Cruz-Coble, Anna Rinholen, Kendrea Garland, Catherine Boissoneault
Exercise: 10 min
James Wymer, Lindsay Alfano, Meredith James, Damien Chrzanowski
Supplements/ Nutrition:
Sujata Patel
Korb MK, Kimonis VE, Mozaffar T. (2020) Multisystem proteinopathy: where myopathy and motor neuron disease converge. Muscle and Nerve:1-13. https://doi.org/10.1002/mus.27097
Kimonis, V. Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia. 2007 May 25 [Updated 2019 Sep 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1476/
Teresinha Evangelista , Conrad C Weihl , Virginia Kimonis , Hanns Lochmüller , VCP related diseases Consortium, 215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands, Neuromuscul Disord. 2016 Aug; 26(8): 535–547
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5967615/
Powerpoint presentation of Organizational Meeting for the Development of a Standard of Care for VCP disease / IBMPFD / MSP-1 held on December 11th, 2020: