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Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01353430
Recruitment Status : Recruiting
First Posted : May 13, 2011
Last Update Posted : April 9, 2021
Information provided by (Responsible Party):
University of California, Irvine

Brief Summary:

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.

Condition or disease
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia Paget Disease of Bone Frontotemporal Dementia Myopathy

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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Characterization of Familial Myopathy and Paget Disease of Bone
Actual Study Start Date : November 15, 2007
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2026

VCP families
Patients with a personal or family history of VCP associated disease.

Biospecimen Retention:   Samples With DNA
Whole blood, skin and muscle biopsy, urine sample, if available samples obtained from previous diagnostic evaluations such as muscle biopsy.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Individuals with a personal or family history of VCP associated disease.

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01353430

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Contact: Virginia Kimonis, MD 949 824 0571

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United States, California
University of California, Irvine Recruiting
Irvine, California, United States, 92697-1385
Contact: Virginia Kimonis, MD    949-824-0571   
Principal Investigator: Virginia Kimonis, MD         
Sponsors and Collaborators
University of California, Irvine
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Principal Investigator: Virginia Kimonis, MD University of California, Irvine
Additional Information:
Publications of Results:

Other Publications:
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: University of California, Irvine Identifier: NCT01353430    
Other Study ID Numbers: VK2007-5832
First Posted: May 13, 2011    Key Record Dates
Last Update Posted: April 9, 2021
Last Verified: April 2021
Keywords provided by University of California, Irvine:
IBMPFD - Inclusion Body Myopathy associated with
Paget's disease of bone and Frontotemporal Dementia
VCP gene - Valosin-containing protein gene
Additional relevant MeSH terms:
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Muscular Diseases
Bone Diseases
Osteitis Deformans
Alzheimer Disease
Frontotemporal Dementia
Aphasia, Primary Progressive
Pick Disease of the Brain
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Neurodegenerative Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Frontotemporal Lobar Degeneration
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations