NCT01353430 Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
| NCT ID | NCT01353430 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of California, Irvine |
| Condition | Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2007-11-15 |
| Primary Completion | 2030-12 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2007-11-15 with a primary completion date of 2030-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
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.
Contact & Investigator
Virginia Kimonis, MD
PRINCIPAL INVESTIGATOR
University of California, Irvine
Frequently Asked Questions
Who can join the NCT01353430 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT01353430 currently recruiting?
Yes, NCT01353430 is actively recruiting participants. Contact the research team at vkimonis@uci.edu for enrollment information.
Where is the NCT01353430 trial being conducted?
This trial is being conducted at Irvine, United States.
Who is sponsoring the NCT01353430 clinical trial?
NCT01353430 is sponsored by University of California, Irvine. The principal investigator is Virginia Kimonis, MD at University of California, Irvine. The trial plans to enroll 50 participants.