Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01353430|
Recruitment Status : Recruiting
First Posted : May 13, 2011
Last Update Posted : September 26, 2019
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.
|Condition or disease|
|Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia Paget Disease of Bone Frontotemporal Dementia Myopathy|
|Study Type :||Observational|
|Estimated Enrollment :||50 participants|
|Official Title:||Characterization of Familial Myopathy and Paget Disease of Bone|
|Study Start Date :||January 2000|
|Estimated Primary Completion Date :||December 2025|
|Estimated Study Completion Date :||December 2026|
Patients with a personal or family history of VCP associated disease.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01353430
|Contact: Virginia Kimonis, MD||949 824 firstname.lastname@example.org|
|United States, California|
|University of California, Irvine||Recruiting|
|Irvine, California, United States, 92697-1385|
|Contact: Virginia Kimonis, MD 949-824-0571 email@example.com|
|Principal Investigator: Virginia Kimonis, MD|
|Principal Investigator:||Virginia Kimonis, MD||University of California, Irvine|