Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
Study Details
Study Description
Brief 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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
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Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| VCP families Patients with a personal or family history of VCP associated disease. |
Outcome Measures
Primary Outcome Measures
Eligibility Criteria
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:
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Limb Girdle Muscular Dystrophy
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Myopathy
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Inclusion body myopathy
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FSH (Facioscapular muscular dystrophy) without the mutation
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Scapuloperoneal muscular dystrophy
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Amyotrophic Lateral Sclerosis
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Non specific muscular dystrophy
AND
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Bone disorders including:
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Paget disease of bone
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Fibrous dysplasia
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Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
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Non-specific bone disease
Eligible participants must also be:
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Subjects must to 18 years or older
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Subjects must to able to give consent
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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.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University of California, Irvine | Irvine | California | United States | 92697-1385 |
Sponsors and Collaborators
- University of California, Irvine
Investigators
- Principal Investigator: Virginia Kimonis, MD, University of California, Irvine
Study Documents (Full-Text)
None provided.More Information
Additional Information:
Publications
- Kimonis VE, Fulchiero E, Vesa J, Watts G. VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. Biochim Biophys Acta. 2008 Dec;1782(12):744-8. doi: 10.1016/j.bbadis.2008.09.003. Epub 2008 Sep 18. Review.
- Llewellyn KJ, Walker N, Nguyen C, Tan B, BenMohamed L, Kimonis VE, Nalbandian A. A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy. PLoS One. 2015 Jul 2;10(7):e0131995. doi: 10.1371/journal.pone.0131995. eCollection 2015.
- VK2007-5832