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

Timeline:

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

Project Scope: 

Establish 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.

5. Distribute and publicize the publication to patients and physicians through the Cure VCP Disease network.

Guidance:

  1. 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/

  2. 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 allison@curevcp.org of changes to your working group or format.

Current Standard of Care Team

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Manisha K. Korb, MD

University of California-Irvine

Assistant Professor at University of California-Irvine, Department of Neurology

More Info

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Virginia Kimonis, MD

University of California-Irvine

Professor and Clinical Geneticist-Scientist at University of California-Irvine, Department of Pediatrics   

More Info

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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

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Chris Weihl, MD, PhD

Washington University -St. Louis

Professor of Neurology at Washington University School of Medicine in St. Louis  More Info

 

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 LochmüllerVCP 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: 

Reference Publications and Documents