Study of Inherited Muscle and Bone Diseases

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

Recruiting Observational Study
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia Paget Disease of Bone Frontotemporal Dementia Myopathy
No Placebo Group Every participant receives an active treatment — no one gets a placebo. Healthy Volunteers Welcome You do not need to have the condition being studied to take part. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
18 and older
Sex
Any
Study type
Observational
Participants needed
50 (estimated)
Sponsor
University of California, Irvine · Other
Who this trial is looking for

This trial is looking for people with inherited muscle and bone diseases, as well as their family members. Participants will provide blood and urine samples and may travel for additional tests like MRIs.

Are You a Good Fit for This Trial?

You may be able to join if

  • I am 18 years or older
  • I have muscle disorders
  • I have bone disorders
  • I can give my consent
  • I am a family member of someone with these conditions

You may not be able to join if

  • I am under the age of 18
  • I have a different unrelated diagnosis
  • I am unable to provide consent for myself

Summarized in plain language from this trial's official eligibility criteria. The full criteria are further down this page — only the research team can confirm whether you qualify.

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About This Trial
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 …
Trial Locations
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Eligibility Criteria
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 patient…
Contacts

Virginia Kimonis, MD

949 824 0571

vkimonis@uci.edu

CONTACT