Oral-Facial-Digital Syndromes (OFDS) Research Study - FAQ about Oral-Facial-Digital Syndromes Research Study

Oral-Facial-Digital Syndromes (OFDS) Research Study

Frequently Asked Questions About the Oral-Facial-Digital Syndromes Research Study

What is this study about?

We invite you to join a research study of Oral Facial Digital Syndromes (OFDS) at the National Institutes of Health (NIH).

Why should I join the study? Will I benefit?

Cooperation between patients and researchers has been vital to the progress that has been made in the study of the human genome.

People join research studies for many reasons. Three common reasons include:

1. Altruism. This simply means "a regard for others." For example, why do many people donate blood? Usually, the donation doesn't help anyone that the donor knows, but rather a stranger in need. For many people, it feels good to help others, and that is reason enough to donate. The same is true for a research study. There may be no direct benefit to you, but by helping doctors learn about OFDS, you are helping the wider community of people with OFDS.
    
2. Learning. Joining a research study is a chance to talk to medical professionals with a special interest in OFDS. There is a lot of time to ask questions, to learn "what's new" and to better understand how OFDS is inherited.
    
3. Advice. People join research studies to seek medical advice from doctors with special expertise and interest in their disease. This can range from confirmation of a diagnosis to guidance on a new problem. It is important to remember that doctors involved in research (such as those at NIH) work with, but cannot replace, your regular doctors.

What we are trying to learn with the study?

The goal of this study is to learn more about the Oral-Facial-Digital Syndromes. These conditions are very rare and are not well understood by doctors. The overlap in the features of the different types of OFDS can make them difficult to diagnose. We hope to learn more about the different types of OFDS, how they affect different people differently, and to determine which genes cause these conditions.

What are we NOT trying to do?

1. We are NOT testing any new medicine or procedure to treat or cure OFDS.
    
2. At the National Institutes of Health (NIH), we are interested in research. Although we are happy to provide advice for people enrolled in our study, we are not able to take over the long-term care of a person with OFDS.

What is the approach of the study?

People who participate in this study may be asked to come to the NIH for an in-person evaluation or may only be asked to send in a blood or other sample through the mail. We will collect blood samples from all participants to see if we can find the gene changes that cause OFDS.

What is involved in the study?

We will first see if you are eligible to join the study. There are two parts to the study: a laboratory part that involves studying your blood, and a clinical part with an evaluation at NIH in addition to the laboratory part. We will decide on a case-by-case basis if we will invite you to come to the NIH or if we will have you begin in the laboratory part. We are not able to ask everyone to travel to the NIH.

If you are in the laboratory part, we will ask that you send us a blood sample. We will help to coordinate getting the blood sample from your doctor and shipping it to us.

Both parts of the study include an informed consent discussion where a member of the research team will talk with you about the risks and benefits of the study and confirm that you are willing to join the study.

What happens if I visit the NIH?

If we do invite you to the NIH, we will help arrange travel for you (and some family members, in some cases) for a visit to the NIH in Bethesda, Maryland. We will pay for some of your travel expenses.

At the NIH, you will have an informed consent discussion to learn about the risks and benefits of the study and confirm that you are willing to join the study. You will meet with a geneticist who will ask about your medical and family history and do a physical exam (like in any doctor's office). In addition, we will design a set of evaluations based on your needs and concerns and on our research interests. We will explain the need for those studies to you. They may include imaging studies, like X-rays, and having blood drawn.

There will be plenty of time to discuss the genetics and inheritance of OFDS and to answer your questions. We can help you find doctors near you for follow-up. We will send a letter summarizing your visit to you.

What about my privacy?

We take privacy and confidentiality very seriously. Your medical information will be stored in a password-protected database and in a locked filing cabinet. Although we may share medical information with our colleagues, your name will not be used. Instead a code will be used that is unrelated to your name. The "key" to the code will be stored in a locked drawer in the office of the principal investigator.

What is the cost of the study?

The visit and all testing are free and there is no cost to you, your family, or your insurance company for this study.

What about travel?

In most cases, we will pay for all or some of your travel and parking expenses. This may include your transportation to the NIH (plane, car, train, etc), hotel, meals and expenses. Travel must be arranged by NIH. Note that we may not be able to pay all of your travel expenses.

Will I get paid for joining the study?

No, participants in the study do not receive any compensation other than some travel and lodging expenses. There may be no direct benefit to you but we hope the results from the study will eventually benefit other families with OFDS.

What are other resources to find out information about genetics and support groups?

• Genetic Alliance [geneticalliance.org]
  Advocacy, education and empowerment.
   
• Genetics Home Reference [ghr.nlm.nih.gov]
  Consumer-friendly information about the effects of genetic variations on human health.
   
• Frequently Asked Questions about Clinical Research
  Everything you need to know about clinical research.
   
• Genetic and Rare Disease Support Groups [kumc.edu]
  Lay advocacy and support groups, and information on genetic conditions and birth defects for professionals, educators and individuals.

Is there a way I can find out how my participation in this study made a difference?

We plan to post any findings and study updates on our Study Updates Web page. Please check back frequently to learn about any advances we have made!

How do I enroll?

The first step is to determine if you and/or your family are eligible to participate. Please see the Study Eligibility page for details, or call us at 1-800-411-1222. For TTY users, call 1-866-411-1010.