What is this study trying to find out about inclusion body myopathy and related diseases?

This study is investigating how changes in the VCP gene cause muscle, bone, and cognitive problems in families with inherited inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. The research aims to better understand these diseases to help affected families. The University of California, Irvine is leading this study.

Who may be eligible for this inclusion body myopathy clinical trial?

Adults aged 18 or older with a personal or family history of muscle or bone diseases linked to VCP gene mutations may be eligible. Both men and women can participate. Participants must be able to give consent. Please review eligibility criteria for more details.

Is there any cost to participate in this inclusion body myopathy clinical trial?

Study-related care, including any tests and assessments, is provided at no cost. However, personal travel expenses may vary and are not guaranteed to be covered by the study.

Actively Recruiting

Age: 18Years +

All Genders

Healthy Volunteers

ID01353430

Study of Familial Muscle and Bone Disease Related to VCP Gene Mutations

Led by University of California, Irvine · Updated on 2025-06-18

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are studying families affected by inherited inclusion body myopathy IBM, Paget disease of bone PDB, and frontotemporal dementia FTD, conditions linked to changes in the VCP gene. The goal is to understand how mutations in this gene lead to muscle, bone, and cognitive problems seen in IBMPFD. This observational study involves adults with personal or family histories of these conditions or related muscle and bone disorders. Participants provide biological samples like blood and urine, share family and medical histories, and complete questionnaires about their health. Some participants may be invited to visit the University of California, Irvine, for a two-day program including local procedures such as MRI and bone scans. Travel is only required for those selected for additional testing. Throughout the study, samples are coded to protect participant privacy. The research team collects data to better understand the diseases impact on muscle, bone, and brain function. Participation involves sharing medical information and possibly undergoing imaging tests during the study period, which continues through December 2030.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 18Years +

All Genders

Healthy Volunteers

Eligibility Criteria

You may qualify if you...

Individuals with a combination of muscle and bone disease and their family members
Personal or family history of muscle disorders such as limb girdle muscular dystrophy, myopathy, inclusion body myopathy, facioscapular muscular dystrophy without mutation, scapuloperoneal muscular dystrophy, amyotrophic lateral sclerosis, or non-specific muscular dystrophy
Personal or family history of bone disorders including Paget disease of bone, fibrous dysplasia, diaphyseal medullary stenosis with malignant fibrous histiocytoma, or non-specific bone disease
Age 18 years or older
Able to give consent
Adult family members or spouses over 18 of affected individuals

You will not qualify if you...

Under the age of 18
Diagnosed with an unrelated condition not associated with VCP gene disease
Unable to provide consent for themselves

Research Team

Virginia Kimonis, MD

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