Trials / Recruiting
RecruitingNCT01353430
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
- Status
- Recruiting
- Phase
- —
- Study type
- Observational
- Enrollment
- 50 (estimated)
- Sponsor
- University of California, Irvine · Academic / Other
- Sex
- All
- Age
- 18 Years
- Healthy volunteers
- Accepted
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.
Conditions
- Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia
- Paget Disease of Bone
- Frontotemporal Dementia
- Myopathy
Timeline
- Start date
- 2007-11-15
- Primary completion
- 2030-12-01
- Completion
- 2030-12-01
- First posted
- 2011-05-13
- Last updated
- 2025-06-18
Locations
1 site across 1 country: United States
Source: ClinicalTrials.gov record NCT01353430. Inclusion in this directory is not an endorsement.