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

June 13, 2025 updated by: Virginia Kimonis, University of California, Irvine

Characterization of Familial Myopathy and Paget Disease of Bone

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • California
      • Irvine, California, United States, 92697-1385
        • Recruiting
        • University of California, Irvine
        • Contact:
        • Principal Investigator:
          • Virginia Kimonis, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

14 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Individuals with a personal or family history of VCP associated disease.

Description

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 patients also have a personal or family history of bone disease they will be considered eligible for the study:

Muscle disorders considered include:

  • 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

AND

  • Bone disorders including:

    • Paget disease of bone
    • Fibrous dysplasia
    • Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
    • Non-specific bone disease

Eligible participants must also be:

  • 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 Criteria:

  • Under the age of 18.

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
VCP families
Patients with a personal or family history of VCP associated disease.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of California, Irvine

Investigators

  • Principal Investigator: Virginia Kimonis, MD, University of California, Irvine

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 15, 2007

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2030

Study Registration Dates

First Submitted

January 26, 2011

First Submitted That Met QC Criteria

May 12, 2011

First Posted (Estimated)

May 13, 2011

Study Record Updates

Last Update Posted (Actual)

June 18, 2025

Last Update Submitted That Met QC Criteria

June 13, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • #20075832

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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