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

NCT01353430 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2025-06-18

No results posted yet for this 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.

Conditions

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

Sponsors & Collaborators

  • University of California, Irvine

    lead OTHER

Principal Investigators

  • Virginia Kimonis, MD · University of California, Irvine

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2007-11-15
Primary Completion
2030-12-31
Completion
2030-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01353430 on ClinicalTrials.gov