VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder.
Virginia E Kimonis, Erin Fulchiero, Jouni Vesa...
https://pubmed.ncbi.nlm.nih.gov/18845250Actively Recruiting
Age: 18Years +
All Genders
Healthy Volunteers
ID01353430
Characterization of Familial Myopathy and Paget Disease of Bone
Led by University of California, Irvine · Updated on 2025-06-18
50
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying families affected by inherited inclusion body myopathy (IBM), Paget disease of bone (PDB), and frontotemporal dementia (FTD), conditions linked to changes in the VCP gene. The goal is to understand how mutations in this gene lead to muscle, bone, and cognitive problems seen in IBMPFD. This observational study involves adults with personal or family histories of these conditions or related muscle and bone disorders. Participants provide biological samples like blood and urine, share family and medical histories, and complete questionnaires about their health. Some participants may be invited to visit the University of California, Irvine, for a two-day program including local procedures such as MRI and bone scans. Travel is only required for those selected for additional testing. Throughout the study, samples are coded to protect participant privacy. The research team collects data to better understand the disease's impact on muscle, bone, and brain function. Participation involves sharing medical information and possibly undergoing imaging tests during the study period, which continues through December 2030.
CONDITIONS
Brief Title
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
Who Can Participate
Age: 18Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Individuals with a combination of muscle and bone disease and their family members
- Personal or family history of muscle disorders such as limb girdle muscular dystrophy, myopathy, inclusion body myopathy, facioscapular muscular dystrophy without mutation, scapuloperoneal muscular dystrophy, amyotrophic lateral sclerosis, or non-specific muscular dystrophy
- Personal or family history of bone disorders including Paget disease of bone, fibrous dysplasia, diaphyseal medullary stenosis with malignant fibrous histiocytoma, or non-specific bone disease
- Age 18 years or older
- Able to give consent
- Adult family members or spouses over 18 of affected individuals
You will not qualify if you...
- Under the age of 18
- Diagnosed with an unrelated condition not associated with VCP gene disease
- Unable to provide consent for themselves
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Long-term Monitoring
Duration - Up to December 2030
Participants with a personal or family history of VCP associated disease are observed over time to characterize the condition.
Trial Site Locations
Total: 1 location
1
University of California, Irvine
Irvine, California, United States, 92697-1385
Actively Recruiting
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Research Team
V
Virginia Kimonis, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Published Research Related To This Trial
A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy.
Katrina J Llewellyn, Naomi Walker, Christopher Nguyen...
https://pubmed.ncbi.nlm.nih.gov/26134519VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD.
Emilie Tresse, Florian A Salomons, Jouni Vesa...
https://pubmed.ncbi.nlm.nih.gov/20104022Pathological consequences of VCP mutations on human striated muscle.
Christian U Hübbers, Christoph S Clemen, Kristina Kesper...
https://pubmed.ncbi.nlm.nih.gov/16984901Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts.
Jouni Vesa, Hailing Su, Giles D Watts...
https://pubmed.ncbi.nlm.nih.gov/19828315Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.
Conrad C Weihl, Alan Pestronk, Virginia E Kimonis
https://pubmed.ncbi.nlm.nih.gov/19380227Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
Virginia E Kimonis, Sarju G Mehta, Erin C Fulchiero...
https://pubmed.ncbi.nlm.nih.gov/18260132Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
G D J Watts, D Thomasova, S K Ramdeen...
https://pubmed.ncbi.nlm.nih.gov/17935506APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).
Sarju G Mehta, Giles D J Watts, Jennifer L Adamson...
https://pubmed.ncbi.nlm.nih.gov/17224685Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations.
Mark S Forman, Ian R Mackenzie, Nigel J Cairns...
https://pubmed.ncbi.nlm.nih.gov/16783167