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

Launched by UNIVERSITY OF CALIFORNIA, IRVINE · May 12, 2011

Keywords

ClinConnect Summary

This clinical trial is studying a rare condition called Inclusion Body Myopathy associated with Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD). Researchers want to understand how changes in a specific gene (the VCP gene) lead to problems with muscles, bones, and thinking. They are looking for families who have members with muscle diseases, bone diseases like Paget's disease, or dementia, even if those individuals don’t show all the symptoms.

To participate, you need to be at least 18 years old and able to give your consent. You can join if you or a family member has muscle or bone issues, or if you have a family history of these conditions. Participants will provide blood and urine samples and answer questions about their health and family history. Some may be invited to the University of California, Irvine, for additional tests like MRIs and bone scans, but this is not required for everyone. Your privacy will be protected, as all samples will be coded. If you have any questions or think you might be eligible, please consider reaching out to learn more!

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• * Inclusion criteria include all individuals with a combination of medical problems including muscle and bone disease and their family members. Because historically VCP related muscle disease has been erroneously diagnosed with the following diagnoses, therefore if these patients also have a personal or family history of bone disease they will be considered eligible for the study:
• Muscle disorders considered include:
• • Limb Girdle Muscular Dystrophy
• • Myopathy
• • Inclusion body myopathy
• • FSH (Facioscapular muscular dystrophy) without the mutation
• • Scapuloperoneal muscular dystrophy
• • Amyotrophic Lateral Sclerosis
• • Non specific muscular dystrophy
• • AND
• * Bone disorders including:
• • Paget disease of bone
• • Fibrous dysplasia
• • Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
• • Non-specific bone disease
• Eligible participants must also be:
• • Subjects must to 18 years or older
• • Subjects must to able to give consent
• • Adult family members or spouses over the age of 18 of the affected individuals
• Exclusion Criteria:
• • Under the age of 18.
• • Individuals who report a different unrelated diagnosis will be excluded from the study. Testing to confirm different diagnoses will not be performed, instead patient will be questioned for this information and records will be obtained for confirmation of appropriate testing.
• • Those who are unable to provide consent for themselves will be excluded from participating in the study.