Who can participate in the study?

Any individual who has been diagnosed with cherubism is eligible to participate. Sometimes it may not be clear whether it is cherubism or a very similar disorder. In such instances we will ask for doctors’ letters or x-rays.

If we do not find a known mutation in SH3BP2 it may be helpful to have certain family members participate as well.

What if I do not live close to UConn Health?

We can communicate with you by email and telephone. You do not have to come to UConn Health. However, if you live close by you are welcome to see us in person.

What do I need to do if I wish to participate?

You will be asked to donate a one-time saliva sample. If you have surgery we would also like to obtain bone tissue that would otherwise be discarded by the surgeon.

What are the procedures for participation?

To donate saliva:

1. You contact us by email or by phone at 866-512-9897 (toll free) or 860-679-2062.
2. We will establish whether you have cherubism and answer your questions about the study.
3. We will send you a saliva collection kit and a prepaid return envelope.
4. We will make an appointment to talk you through the consent form and the questionnaire. We will answer any question you may have.
5. You return the signed papers and the saliva sample by prepaid FedEx envelope.
6. We will also need clinical information like doctors’ letters or x-rays (by email or hard copies).

To donate tissue:

1. You will have gone through the recruitment procedures for the saliva collection.
2. Please let us know about any upcoming surgery and tell your doctor that you participate in this cherubism study.
3. We will arrange with your doctor to receive tissue that he would otherwise discard. No extra tissue will be removed. We will send special tubes to the doctor who will send them back via a prepaid FedEx envelope.
4. We may ask you to give us a tube of blood at the same time you have the surgery.

Why do we need these samples?

The saliva samples will be used to isolate DNA from the cells in the saliva. DNA is the material that makes up genes and chromosomes. We will look for mutations in the SH3BP2 gene or other candidate genes.

Tissue samples will be used to isolate cells and to study the differences to normal bone.

What about confidentiality and privacy?

All samples will be given a number and kept separate from the paperwork which links the number to your personal data. We will not pass any information on to your insurance. We will not enter our research data into any of your medical records.

Can I withdraw from the study?

If you choose to withdraw from the study after your sample has been obtained, we will destroy all records in our research files connecting your identity with your samples. This way samples can only be used anonymously from this point forward.

Can I obtain results from this study?

You can choose to receive general information about results once we have made significant progress. No research results pertaining to your person will be shared with you or any member of your family. We can send information about your own sample to your physician or genetic counselor who can explain the significance of the finding. This is to avoid any confusion about genetic information.

What if I have questions?

You can contact the study team at any time and we will give you contact information for regulatory entities that oversee our research.