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

Last updated: June 13, 2025
Sponsor: University of California, Irvine
Overall Status: Active - Recruiting

Phase

N/A

Condition

Bone Neoplasm

Dementia

Sarcopenia

Treatment

N/A

Clinical Study ID

NCT01353430
#20075832
  • Ages > 18
  • All Genders
  • Accepts Healthy Volunteers

Study Summary

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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Inclusion criteria include all individuals with a combination of medical problemsincluding muscle and bone disease and their family members. Because historically VCPrelated muscle disease has been erroneously diagnosed with the following diagnoses,therefore if these patients also have a personal or family history of bone diseasethey 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

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 Design

Total Participants: 50
Study Start date:
November 15, 2007
Estimated Completion Date:
December 31, 2030

Connect with a study center

  • University of California, Irvine

    Irvine, California 92697-1385
    United States

    Active - Recruiting

Map preview placeholder

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.