RecruitingNCT01353430

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

Characterization of Familial Myopathy and Paget Disease of Bone

Sponsor

University of California, Irvine

Enrollment

50 participants

Start Date

Nov 15, 2007

Study Type

OBSERVATIONAL

Conditions

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

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.

Eligibility

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This study characterizes inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) — a rare inherited condition caused by mutations in the VCP gene that can affect muscles, bones, and the brain. Because IBMPFD is frequently misdiagnosed as other muscle or bone conditions, the study is open to anyone with a combination of muscle and bone disease who may have VCP-related disease. Adult family members and spouses of affected individuals are also welcome. You may be eligible if... - You are 18 years of age or older - You have a combination of a muscle disorder (such as limb-girdle muscular dystrophy, myopathy, ALS, or other muscular dystrophy) AND a bone disorder (such as Paget's disease or fibrous dysplasia) - You are an adult family member or spouse of someone with such a combination of conditions - You are able to give informed consent You may NOT be eligible if... - You are under 18 years of age - You have a clearly different, unrelated diagnosis - You are unable to provide consent for yourself Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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