Characterization of Familial Myopathy and Paget Disease of Bone

Trial Information
Status: Recruiting
Location: See location...
Study Type: Observational

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.

Am I eligible for this trial?
Participation Requirements
Minimum Age:
Healthy Volunteers:
Accepts Healthy Volunteers

• 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

Where is this trial taking place?
United States
University of California, Irvine
Who do I contact about this trial?
Virginia Kimonis, MD
949 824 0571
When is this trial taking place?
Start Date: November 15, 2007
Estimated Completion Date: December 2026
How many participants will be in this trial?
Target number of participants: 50
What treatment is being studied in this trial?
VCP families
Patients with a personal or family history of VCP associated disease.
Who are the authors of this trial?

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