Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
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.
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia
Paget Disease of Bone
|Study Design:||Observational Model: Case Control
Time Perspective: Cross-Sectional
|Official Title:||Characterization of Familial Myopathy and Paget Disease of Bone|
Whole blood, skin and muscle biopsy, urine sample, if available samples obtained from previous diagnostic evaluations such as muscle biopsy.
|Study Start Date:||January 2000|
|Estimated Primary Completion Date:||December 2025 (Final data collection date for primary outcome measure)|
Patients with a personal or family history of VCP associated disease.
|Contact: Sandra Donkervoort, MS, CGC||949 824 firstname.lastname@example.org|
|United States, California|
|University of California, Irvine||Recruiting|
|Irvine, California, United States, 92697-1385|
|Contact: Sandra Donkervoort, MS CGC 949-824-0521 email@example.com|
|Principal Investigator: Virginia Kimonis, MD|
|Principal Investigator:||Virginia Kimonis, MD||University of California, Irvine|