Actively Recruiting
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
Led by University of California, Irvine · Updated on 2025-06-18
50
Participants Needed
1
Research Sites
1202 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
The investigators are researching families with inherited inclusion body myopathy (IBM) and/or Paget disease of bone (PDB) and/or dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene. Our main goal is to understand how changes in the VCP gene cause the muscle, bone and cognitive problems associated with the disease. The investigators are collecting biological specimen such as blood and urine samples, family and medical histories, questionnaire data of patients with a personal or family history of VCP associated disease. Participants do not need to have all symptoms listed above in order to qualify. A select group of participants may be invited to travel to University of California, Irvine for a two day program of local procedures such as an MRI and bone scan. Samples are coded to maintain confidentiality. Travel is not necessary except for families invited for additional testing.
CONDITIONS
Official Title
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals with muscle and bone diseases or their family members
- Diagnoses may include limb girdle muscular dystrophy, myopathy, inclusion body myopathy, facioscapular muscular dystrophy without mutation, scapuloperoneal muscular dystrophy, amyotrophic lateral sclerosis, or non-specific muscular dystrophy
- Bone disorders may include Paget disease of bone, fibrous dysplasia, diaphyseal medullary stenosis with malignant fibrous histiocytoma, or non-specific bone disease
- Participants must be 18 years or older
- Participants must be able to give consent
- Adult family members or spouses over 18 of affected individuals
You will not qualify if you...
- Younger than 18 years old
- Individuals with unrelated diagnoses not linked to the study conditions
- Those unable to provide consent for themselves
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of California, Irvine
Irvine, California, United States, 92697-1385
Actively Recruiting
Research Team
V
Virginia Kimonis, MD
CONTACT
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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