Understanding IBMPFD: Muscle, Bone, and Brain Disease

This study is looking into a genetic condition called IBMPFD (Inclusion Body Myopathy with Paget's Disease of Bone and Frontotemporal Dementia). This condition causes problems with muscles, bones, and thinking, and is linked to changes in the VCP gene. Researchers want to understand how these VCP gene changes lead to these health issues. You may be able to join if you or your family have a history of muscle disease (myopathy), bone disease (Paget's disease), or dementia (frontotemporal dementia), even if you don't have all these symptoms. The study aims to enroll 50 participants. The current recruitment status is unclear.

Study design
This is an observational study, meaning researchers will collect information without providing any specific treatments. It aims to include 50 participants.
What's involved
Participants will provide biological samples like blood and urine, share their family and medical histories, and complete questionnaires.
Compensation
Not stated in the trial record.
Follow-up
Not specified.

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NCT01353430

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

Recruiting
Not specifiedAges 18+Observational
University of California, Irvine
~50 participants
Updated 2025-06-18 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring

A primary outcome measure isn't published for this study.

Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia
Paget Disease of Bone
Frontotemporal Dementia
Myopathy
1 sites across 1 states
California1
  • Virginia Kimonis, MD · PRINCIPAL_INVESTIGATOR · University of California, Irvine

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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
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

Exclusion

Under the age of 18.