Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
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Purpose
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 |
|---|
|
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia Paget Disease of Bone Frontotemporal Dementia Myopathy |
| Study Type: | Observational |
| Study Design: | Observational Model: Case Control Time Perspective: Cross-Sectional |
| Official Title: | Characterization of Familial Myopathy and Paget Disease of Bone |
Whole blood, skin and muscle biopsy, urine sample, if available samples obtained from previous diagnostic evaluations such as muscle biopsy.
| Estimated Enrollment: | 50 |
| Study Start Date: | January 2000 |
| Estimated Primary Completion Date: | December 2025 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
VCP families
Patients with a personal or family history of VCP associated disease.
|
Eligibility| Ages Eligible for Study: | 18 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Individuals with a personal or family history of VCP associated disease.
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.
Contacts and Locations| 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 |
More Information
Additional Information:
Publications:
| Responsible Party: | Dr. Virginia Kimonis, MD, University of California, Irvine |
| ClinicalTrials.gov Identifier: | NCT01353430 History of Changes |
| Other Study ID Numbers: | VK2007-5832 |
| Study First Received: | January 26, 2011 |
| Last Updated: | May 12, 2011 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by University of California, Irvine:
|
IBMPFD - Inclusion Body Myopathy associated with Paget's disease of bone and Frontotemporal Dementia VCP gene - Valosin-containing protein gene |
Additional relevant MeSH terms:
|
Muscular Diseases Bone Diseases Dementia Osteitis Deformans Frontotemporal Dementia Aphasia, Primary Progressive Pick Disease of the Brain Musculoskeletal Diseases Brain Diseases Central Nervous System Diseases Nervous System Diseases Delirium, Dementia, Amnestic, Cognitive Disorders Mental Disorders |
Neuromuscular Diseases Frontotemporal Lobar Degeneration TDP-43 Proteinopathies Neurodegenerative Diseases Proteostasis Deficiencies Metabolic Diseases Aphasia Speech Disorders Language Disorders Communication Disorders Neurobehavioral Manifestations Neurologic Manifestations Signs and Symptoms |
ClinicalTrials.gov processed this record on May 21, 2013