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

Part of paid clinical trials in Irvine, California.

Sponsor
University of California, Irvine
Study ID
NCT01353430
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Nov 15, 2007
Status verified
Jun 2025
Primary completion
Dec 31, 2030
Completion
Dec 31, 2030

Study Design

Enrollment
50 participants (estimated)

Arms

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

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of California, IrvineIrvineCalifornia92697-1385
Virginia Kimonis, MD
[email protected]
949-824-0571
Virginia Kimonis, MD (PRINCIPAL_INVESTIGATOR)

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By research site
University of California, Irvine· Irvine, CA

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