INCLUSION BODY MYOPATHY STUDY

Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) is an uncommon, adult-onset disorder that has been studied in more than two dozen families in the United States and other countries.

Affected individuals may show one or a combination of the three conditions. About 90 percent of the affected persons in the study have myopathy or muscle weakness, particularly of the shoulder and hip girdles, which can lead to loss of walking ability and even death by complications of respiratory and cardiac failure.

About half of affected study participants have Paget disease of the bone characterized by abnormal rates of bone growth that can result in bone pain, enlargement, and fractures. Premature frontotemporal dementia affecting behavior and personality is seen in one-fourth to one-third of affected individuals.

In 2003, the Kimonis lab identified the gene causing IBMPFD as valosin-containing protein, or VCP (also called CDC48 and p97) (Nature Genetics 2004.36: 377-381). An evolutionary gene, VCP is common in basic life forms and is involved in several vital cellular processes. The lab found that six possible mutations in the VCP gene resulted in IBMPFD. Further, there appears to be a mutation "hot-spot," meaning that the majority of mutations are found in the same region within VCP.

Now that IBMPFD has been clinically and genetically characterized, the next step to develop potential treatments is to identify the specific ways in which the VCP mutations affect patients at the cellular level. 

Scientists in the Kimonis lab who have funding from the Muscular Dystrophy Association (MDA) and National Institutes of Health (NIH) are working on molecular genetics experiments to decipher the mechanisms within the cell that are at the root of IBMPFD.

For more information about IBMPFD, contact David Sweetman, a patient advocate, who maintains a website: www.ibmpfd.com, which offers a message board, contact information for research groups, and a variety of other useful information for patients, caregivers, and researchers.

Participating in the study

If you or someone you know is interested in participating in the IBMPFD study, please contact Sandra Donkervoort, MS, or contact us. 

The study involves:

• Release of medical records
  We will ask your doctor and/or your hospital for your medical records only with your written consent. This is to gather more information about your condition.
• Sample collection
  Blood: About two tablespoons is required. There is no charge to you or your insurance company for this testing.
  Cheek swab: This sample and part of the blood sample is used for the collection of DNA.
  Urine: A urine sample is obtained to test for markers that indicate Paget's disease of bone. There is no charge to you or your insurance company for this testing.
  Skin sample: If you chose to do so, you may be asked to submit a skin sample through a skin biopsy for further analysis of your condition.
• Examination
  A physical and neurological examination may be required.
• Taking of a medical history
  If you choose to participate, you will be asked for information about yourself, your children, siblings, grandparents, and possibly other members of your family. This information may include age, ethnic background, health status, and the biological relationship between individuals.