NCT01353430 · RECRUITING
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
This is a research study, not a drug trial. Investigators are collecting blood, urine, family histories and questionnaires from families with a rare inherited condition called IBMPFD, which affects muscle, bone and sometimes memory and thinking. It is caused by changes in the VCP gene. The goal is to understand how those changes cause symptoms. No phase was listed.
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.
The sponsor's own eligibility wording, lightly reformatted. The study team makes the final eligibility decision — worth discussing with your doctor.
Eligibility criteria as of 2025-06-18