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Developing a Standard of Care Heading

International Meeting Date
Friday, April 9 at 10:00 AM - 1:00 PM ET

Project Scope: 

Establishing 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 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

Headshot of Manisha K. Korb, MD

Manisha K. Korb, MD

University of California-Irvine

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

More Info

Headshot of Virginia Kimonis, MD

Virginia Kimonis, MD

University of California-Irvine

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

More Info

Headshot of Tahseen Mozaffar, MD, PhD

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

Headshot of Chris Weihl, MD, PhD

Chris Weihl, MD, PhD

Washington University -St. Louis

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


Expert Working Groups:  

Genetic diagnosis / counseling:

Gerald Pfeffer, Roberto Fanganiello, Virginia Kimonis, Grace Lee, Ryan Mahoney, Elizabeth Healzer



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


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.

 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:

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

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

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