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

Study 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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

 Yes
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

 Observational
Eligible Ages 18 Years and Over
Gender All
More Inclusion & Exclusion 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.

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

 NCT01353430
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

 University of California, Irvine
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

 Virginia Kimonis, MD
Principal Investigator Affiliation University of California, Irvine
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

 Other
Overall Status Recruiting
Countries United States
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

 Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone, Frontotemporal Dementia, Myopathy
Study Website: View Trial Website
Arms & Interventions

Arms

: VCP families

Patients with a personal or family history of VCP associated disease.

Interventions

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

University of California, Irvine, Irvine, California

Status

Recruiting

Address

University of California, Irvine

Irvine, California, 92697-1385

Site Contact

Virginia Kimonis, MD

[email protected]

949-824-0571

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