Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
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| ClinicalTrials.gov Identifier: NCT01353430 |
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Recruitment Status :
Recruiting
First Posted : May 13, 2011
Last Update Posted : May 13, 2011
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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 |
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| 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 |
| Observational Model: | Case Control |
| Time Perspective: | Cross-Sectional |
| Official Title: | Characterization of Familial Myopathy and Paget Disease of Bone |
| Study Start Date : | January 2000 |
| Estimated Primary Completion Date : | December 2025 |
| Group/Cohort |
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VCP families
Patients with a personal or family history of VCP associated disease.
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| Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
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
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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.
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: Sandra Donkervoort, MS, CGC | 949 824 0521 | sdonkerv@uci.edu |
| United States, California | |
| University of California, Irvine | Recruiting |
| Irvine, California, United States, 92697-1385 | |
| Contact: Sandra Donkervoort, MS CGC 949-824-0521 sdonkerv@uci.edu | |
| Principal Investigator: Virginia Kimonis, MD | |
| Principal Investigator: | Virginia Kimonis, MD | University of California, Irvine |
Publications of Results:
Other Publications:
| Responsible Party: | Dr. Virginia Kimonis, MD, University of California, Irvine |
| ClinicalTrials.gov Identifier: | NCT01353430 History of Changes |
| Other Study ID Numbers: |
VK2007-5832 |
| First Posted: | May 13, 2011 Key Record Dates |
| Last Update Posted: | May 13, 2011 |
| Last Verified: | May 2011 |
Keywords provided by University of California, Irvine:
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IBMPFD - Inclusion Body Myopathy associated with Paget's disease of bone and Frontotemporal Dementia VCP gene - Valosin-containing protein gene |
Additional relevant MeSH terms:
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Frontotemporal Dementia Pick Disease of the Brain Dementia Alzheimer Disease Muscular Diseases Aphasia, Primary Progressive Bone Diseases Osteitis Deformans Brain Diseases Central Nervous System Diseases Nervous System Diseases Neurocognitive Disorders Mental Disorders Tauopathies |
Neurodegenerative Diseases Musculoskeletal Diseases Neuromuscular Diseases Frontotemporal Lobar Degeneration TDP-43 Proteinopathies Proteostasis Deficiencies Metabolic Diseases Aphasia Speech Disorders Language Disorders Communication Disorders Neurobehavioral Manifestations Neurologic Manifestations Signs and Symptoms |