Our team greatly appreciates your participation. This 18 question survey is expected to take 10-15 minutes to complete. The purpose of this survey is to understand your current diagnosis, treatment, and monitoring plan for a patient with this condition. These survey responses will be used (1) to aid in discussion and (2) to compile for publication.
Your response and collaboration on this project are valued, even if you may only have one patient. Because of the disparate phenotypes, our team has asked clinicians from multiple backgrounds to complete this survey, so some of the questions may or may not apply to the type of care you have provided.
Clinical Survey for VCP disease / IBMPFD / MSP-1
International Meeting Date
Friday, April 9 at 11:00 AM - 2:00 PM EST
January 15 - Targeted Date to have contributors and working groups finalized
January 30 - Survey submittal deadline
March 26 - Paragraphs due
April 5 - Slides due
April 9 - 11:00 - 2:00 EST standard of care meeting
Establish a Standard of Care through Expert Consensus
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
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.
5. Distribute and publicize the publication to patients and physicians through the Cure VCP Disease network.
Paragraphs: Written segments should include some background/overview of the symptoms, incidence/ prevalence, diagnostic testing, management, surveillance, and future directions/ clinical trials. A model for this project is the 215th ENMC International Workshop on VCP-related multi-system proteinopathy. The article can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5967615/
Working Groups: Your expert group may divide the research, written segments and presentations in the manner you feel works best for your domain. Please meet with the colleagues in your sub-group by January15th to determine a group lead and the best way to subdivide the research and presentation. Please inform email@example.com of changes to your working group or format.
Current Standard of Care Team
Current Format and Expert Teams:
Genetic diagnosis / counseling: 15 min
Confirmed: Roberto Fanganiello, Virginia Kimonis, Gerald Pfeffer
Myopathy: 20 min
Confirmed: Tom Lloyd, Virginia Kimonis, Gerald Pfeffer, Johanna Palmio, Chris Weihl (biopsy aspect), Manisha Korb, Rolf Schröder, Jordi Diaz-Manera, Matt Wicklund, Bhaskar Roy, Nur Villar, Merille Needham, Tanya Stojkovic, Miriam Freimer, Teresinha Evangelista, Margherita Milone
Frontotemporal Dementia (FTD): 20 min
Confirmed: Nupur Ghoshal, Seyed Ahmad Sajjadi, Andre Obenaus (imaging aspect), Michael Geschwind
Paget's disease of bone (PDB): 20 min
Confirmed: Frederick Singer, Stuart Ralston, Michael Whyte
Amyotrophic lateral sclerosis (ALS): 15 min
Confirmed: James Wymer, Shaida Khan, Tom Lloyd, Andrea Swenson, Zachary Simmons, Angela Genge
Charcot-Marie-Tooth disease (CMT): 10 min
Confirmed: James Wymer, Tom Lloyd, Andrea Swenson, Tanya Stojkovic
Parkinsonism / Parkinson's Disease (PD): 10 min
Confirmed: Claire Henchcliffe
Cardiomyopathy: 10 min
Confirmed: Shaida Khan, Pradeep Mammen
Pulmonary/ Respiratory therapy: 10 min
Confirmed: Tahseen Mozzaffar, Ken Berger
PT/ OT/ assistive and orthotic devices: 10 min
Confirmed: Lindsay Alfano, Meredith James, Betsaida Cruz-Coble
Exercise: 10 min
Confirmed: James Wymer, Lindsay Alfano, Meredith James, Damien Chrzanowski (Australia)
Supplements/ Nutrition: 10 min
Confirmed: 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
Powerpoint presentation of Organizational Meeting for the Development of a Standard of Care for VCP disease / IBMPFD / MSP-1 held on December 11th, 2020: