for people ages 18 years and up (full criteria)
Healthy Volunteers
healthy people welcome
at UC Irvine
study started
completion around
Principal Investigator
by Virginia Kimonis, MD (uci)



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.

Official Title

Characterization of Familial Myopathy and Paget Disease of Bone


Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone, Frontotemporal Dementia, Myopathy, IBMPFD - Inclusion Body Myopathy associated with, Paget's disease of bone and Frontotemporal Dementia, VCP gene - Valosin-containing protein gene, Muscular Diseases, Bone Diseases, Osteitis Deformans, Dementia, Alzheimer Disease, Primary Progressive Aphasia, Pick Disease of the Brain, VCP families


You can join if…

Open to people ages 18 years and up

  • Inclusion criteria include all individuals with a combination of medical problems including muscle and bone disease and their family members. Because historically VCP related muscle disease has been erroneously diagnosed with the following diagnoses, therefore if these patients also have a personal or family history of bone disease they will be considered eligible for the study:

    Muscle disorders considered include:

  • Limb Girdle Muscular Dystrophy
  • Myopathy
  • Inclusion body myopathy
  • FSH (Facioscapular muscular dystrophy) without the mutation
  • Scapuloperoneal muscular dystrophy
  • Amyotrophic Lateral Sclerosis
  • Non specific muscular dystrophy


  • Bone disorders including:
    • Paget disease of bone
    • Fibrous dysplasia
    • Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
    • Non-specific bone disease

      Eligible participants must also be:

  • Subjects must to 18 years or older
  • Subjects must to able to give consent
  • Adult family members or spouses over the age of 18 of the affected individuals

You CAN'T join if...

- Under the age of 18. Individuals who report a different unrelated diagnosis will be excluded from the study. Testing to confirm different diagnoses will not be performed, instead patient will be questioned for this information and records will be obtained for confirmation of appropriate testing. Those who are unable to provide consent for themselves will be excluded from participating in the study.


  • University of California, Irvine accepting new patients
    Irvine California 92697-1385 United States

Lead Scientist at University of California Health

  • Virginia Kimonis, MD (uci)
    Professor, Pediatrics, School of Medicine. Authored (or co-authored) 215 research publications


accepting new patients
Start Date
Completion Date
University of California, Irvine
Study Type
Expecting 50 study participants
Last Updated