Research

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Kimonis and Watts Laboratory | Patients and Families

Participating in Research

Please contact Virginia Kimonis via the information provided in the 'Contact Us' section of this site if you or someone you know is interested in participating in this study.

What does Participation Involve?

1) Release of my 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.

2) Sample collection:

  • Blood: Approximately two tablespoons will be required. There will be no charge to you or your insurance company for this testing.
  • Cheek Swab: This sample and part of the blood sample is used for collection of DNA.
  • Urine: Urine will be obtained to test for markers which are raised in Paget disease of bone. There will be no charge to you or your insurance company for the cost of this testing.

3) A physical and neurological examination may be required.

4) Taking of a medical history:

If you choose to participate, you will be asked to provide 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.

Only Dr. Kimonis and the lab members have access to the information you provide. This is confidential and will not be disclosed to any third parties including insurance companies, your doctor, or your employer. We are aware of issues surrounding genetic testing and this is purely research which will not enter your medical records.

FAQs

What kind of treatment options exist for IBMPFD?
Many of you have asked questions regarding treatment options. Thus far the best available treatment is bisphosphonates for Paget disease. There is no specific treatment for other aspects of the disorder. We recommend that you consult your physician for specific management issues pertaining to muscle disease or dementia.

How can I be tested for IBMPFD?
Now that we have identified several mutations in the VCP gene that cause IBMPFD, we can offer you genetic testing. There is no guarantee that we will identify a mutation in the VCP gene. If we identify a mutation, to be able to give you results, we first need to confirm the testing in a CLIA certified laboratory. This confirmation testing, results disclosure, and genetic counseling will only be done for those that choose to know if they have the mutation or not.

What does research participation involve?
Participation involves the release of your medical records, sample collection (blood, cheek swab, and urine), taking a medical history, and possibly a physical and neurological examination.

Who has access to the information I provide for research?
Only Dr. Kimonis and the lab members have access to the information you provide. This is confidential and will not be disclosed to any third parties including insurance companies, your doctor, or your employer. We are aware of issues surrounding genetic testing and this is purely research which will not enter your medical records.

Are there other ways to help?
Our funding currently is from the NIH and MDA. However, to fully understand IMBPFD, we are always expanding our studies. If you or anyone you know is interested in donating to this important cause please contact the Kimonis Lab via the information provided in the 'Contact Us' section of this site.

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