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

This study is currently recruiting participants.
Verified May 2011 by University of California, Irvine
Sponsor:
ClinicalTrials.gov Identifier:
NCT01353430
First Posted: May 13, 2011
Last Update Posted: May 13, 2011
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.
Information provided by:
University of California, Irvine
January 26, 2011
May 13, 2011
May 13, 2011
January 2000
December 2025   (Final data collection date for primary outcome measure)
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No Changes Posted
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Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
Characterization of Familial Myopathy and Paget Disease of Bone

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.

Not Provided
Observational
Observational Model: Case Control
Time Perspective: Cross-Sectional
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Retention:   Samples With DNA
Description:
Whole blood, skin and muscle biopsy, urine sample, if available samples obtained from previous diagnostic evaluations such as muscle biopsy.
Non-Probability Sample
Individuals with a personal or family history of VCP associated disease.
  • Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia
  • Paget Disease of Bone
  • Frontotemporal Dementia
  • Myopathy
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VCP families
Patients with a personal or family history of VCP associated disease.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
50
Not Provided
December 2025   (Final data collection date for primary outcome measure)

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

AND

  • 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.

Sexes Eligible for Study: All
18 Years and older   (Adult, Senior)
Yes
Contact: Sandra Donkervoort, MS, CGC 949 824 0521 sdonkerv@uci.edu
United States
 
 
NCT01353430
VK2007-5832
No
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Dr. Virginia Kimonis, MD, University of California, Irvine
University of California, Irvine
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Principal Investigator: Virginia Kimonis, MD University of California, Irvine
University of California, Irvine
May 2011