An observational study in Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone and Frontotemporal Dementia, sponsored by University of California, Irvine. Recruiting at 1 site in United States. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-06-18.
Sponsored by University of California, Irvine · 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.
21 studies on the registry are indexed under Osteitis Deformans; 1 is open to participants now.
Browse Osteitis Deformans studies →University of California, Irvine is the lead sponsor of 476 studies on the registry; 98 are open to participants now.
Of its 41 completed or terminated interventional studies of FDA-regulated products, 30 (73%) have results posted.
Counted across the registry records on this site, refreshed daily.
Individuals with a personal or family history of VCP associated disease.
Inclusion Criteria:
Muscle disorders considered include:
AND
Bone disorders including:
Eligible participants must also be:
Exclusion Criteria:
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.
Patients with a personal or family history of VCP associated disease.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
University of California, Irvine →