Recruiting

Observational Study

Sponsor:

UCLA

Code:

NCT01353430

Conditions

Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia

Paget Disease of Bone

Frontotemporal Dementia

Myopathy

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Study Details

Brief 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.

Conditions

Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia

Paget Disease of Bone

Frontotemporal Dementia

Myopathy

Study ID

NCT01353430

Start date

Nov 15, 2007

Status verified date

Jun, 2025

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

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 Design

Enrollment

50 participants

Anticipated

Interventions and Outcome Measures

Arms

VCP families

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

Central Contacts and Locations

Central contacts

Virginia Kimonis, MD

949 824 0571vkimonis@uci.edu

Locations

University of California, Irvine

Recruiting

Irvine, California, United States, 92697-1385

Contacts

Virginia Kimonis, MD

949-824-0571vkimonis@uci.edu

Principal Investigator:

Virginia Kimonis, MD

More Information

Sponsor

University of California, Irvine

Last update posted

Jun 18, 2025

Last verified

Jun, 2025

Keywords

  • IBMPFD - Inclusion Body Myopathy associated with
  • Paget's disease of bone and Frontotemporal Dementia
  • VCP gene - Valosin-containing protein gene

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of California, Irvine on 2025-06-18.