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

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2011 by University of California, Irvine
Information provided by:
University of California, Irvine Identifier:
First received: January 26, 2011
Last updated: May 12, 2011
Last verified: May 2011

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.

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

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Characterization of Familial Myopathy and Paget Disease of Bone

Resource links provided by NLM:

Further study details as provided by University of California, Irvine:

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.

Estimated Enrollment: 50
Study Start Date: January 2000
Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)
VCP families
Patients with a personal or family history of VCP associated disease.


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
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.

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01353430

Contact: Sandra Donkervoort, MS, CGC 949 824 0521

United States, California
University of California, Irvine Recruiting
Irvine, California, United States, 92697-1385
Contact: Sandra Donkervoort, MS CGC    949-824-0521   
Principal Investigator: Virginia Kimonis, MD         
Sponsors and Collaborators
University of California, Irvine
Principal Investigator: Virginia Kimonis, MD University of California, Irvine
  More Information


Responsible Party: Dr. Virginia Kimonis, MD, University of California, Irvine Identifier: NCT01353430     History of Changes
Other Study ID Numbers: VK2007-5832
Study First Received: January 26, 2011
Last Updated: May 12, 2011
Health Authority: United States: Institutional Review Board

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:
Frontotemporal Dementia
Pick Disease of the Brain
Frontotemporal Lobar Degeneration
Aphasia, Primary Progressive
Bone Diseases
Muscular Diseases
Osteitis Deformans
Brain Diseases
Central Nervous System Diseases
Communication Disorders
Delirium, Dementia, Amnestic, Cognitive Disorders
Language Disorders
Mental Disorders
Metabolic Diseases
Musculoskeletal Diseases
Nervous System Diseases
Neurobehavioral Manifestations
Neurodegenerative Diseases
Neurologic Manifestations
Neuromuscular Diseases
Proteostasis Deficiencies
Signs and Symptoms
Speech Disorders
TDP-43 Proteinopathies processed this record on November 25, 2015