Summary

Eligibility
for people ages 18 years and up (full criteria)
Healthy Volunteers
healthy people welcome
Location
at UC Irvine
Dates
study started
completion around
Principal Investigator
by Virginia Kimonis, MD (uci)

Description

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.

Official Title

Characterization of Familial Myopathy and Paget Disease of Bone

Keywords

Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone, Frontotemporal Dementia, Myopathy, IBMPFD - Inclusion Body Myopathy associated with, Paget's disease of bone and Frontotemporal Dementia, VCP gene - Valosin-containing protein gene, Muscular Diseases, Bone Diseases, Osteitis Deformans, Dementia, Alzheimer Disease, Primary Progressive Aphasia, Pick Disease of the Brain, VCP families

Eligibility

Location

  • University of California, Irvine accepting new patients
    Irvine California 92697-1385 United States

Lead Scientist at University of California Health

  • Virginia Kimonis, MD (uci)
    Professor, Pediatrics, School of Medicine. Authored (or co-authored) 221 research publications

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, Irvine
Links
Bibliography
ID
NCT01353430
Study Type
Observational
Participants
Expecting 50 study participants
Last Updated