Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)

Characterization of Familial Myopathy and Paget Disease of Bone

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01353430

Enrollment

Registered

2011-05-13

Start date

2007-11-15

Completion date

2030-12-31

Last updated

2025-06-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Frontotemporal Dementia, Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Myopathy, Paget Disease of Bone

Keywords

IBMPFD - Inclusion Body Myopathy associated with, Paget's disease of bone and Frontotemporal Dementia, VCP gene - Valosin-containing protein gene

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

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.

Countries

United States

Contacts

Primary ContactVirginia Kimonis, MD

vkimonis@uci.edu949 824 0571

Outcome results