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The Study of Disease Severity in Adults with NF1

Overview: The Disease Severity Study Overview: The Tumor Growth Study General Information About NF1 FAQ About the Disease Severity Study FAQ About the Tumor Growth Study Diagnostic Criteria Online Resources for NF1 Study Updates Contact Information

Frequently Asked Questions About the Disease Severity Study

What is this study about?

We invite you to join a research study of neurofibromatosis type 1 (NF1) in adults at the National Institutes of Health (NIH). We are trying to answer a simple question: In a family with NF1, why do some family members have more serious disease than others? By asking this question, we hope to find the genes that control the seriousness - or severity - of NF1.

In 1990, scientists found that mutations (or changes) in the gene called NF1 cause neurofibromatosis type 1. Since that time, doctors and scientists have learned a lot about the disease. However, many questions about NF1 still remain. Families frequently ask why the disease is more serious in some family members than in others. Other questions may come to your mind. What kind of disease will I have? What kind of disease will my children have? What causes some people to have malignant cancers? What causes the learning disabilities in NF1?

With this study, we are trying to learn about the severity of neurofibromatosis type 1. At this time, severity is very difficult to predict. There are two reasons for this. First, the severity of the disease does not depend on where in the NF1 gene a person's mutation is located. Second, if a parent has serious disease, it does not necessarily mean that their child will have serious disease. Because of this, doctors cannot guess at the severity of the disease in a newly-diagnosed family member.

The goal of this study is to find the genes that control the severity of neurofibromatosis type 1. Ultimately, we hope that we can then use those genes to predict the kinds of medical problems a person with NF1 might have.

Why should I join the study, or, what's in it for me?

In NF1, there is a long history of cooperation between patients and doctors. Much progress has been made as a result of patients and doctors working together. 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? Most of the time, the blood helps a stranger in need, and not anyone known to the donator. For many people, it feels good to help others, and that is reason enough. The same is true for a research study. There may be no direct benefit to you, but by helping doctors learn about NF1, you are helping the wider community with NF1. Also, NF1 is an important disease that has taught doctors a lot about tumors and genetics. In joining a research study, you may also be helping a much larger group of people with tumors.
   
   
2. Learning. It is not unusual for a person with a rare disease (like NF1) to know more about their illness than their doctors! Joining a research study is a chance to spend time with doctors with a special interest in NF1. There is a lot of time to ask questions, to learn "what's new" and to better understand how NF1 affects a family. It is also a chance to share and learn about coping with a serious disorder.
   
   
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 doctor". However, we may be able to find doctors, and other medical professionals and support groups in your local area with experience with NF1

New information, treatments and in the future, a cure, for neurofibromatosis type 1 will only come from people with NF1 working together with doctors. Animal models of the disease (like mice) are helpful up to a point. But there is no replacement for studying the disease in a human being!

What we are trying to learn with the study?

The goal of this study is to find the genes that control the severity of neurofibromatosis type 1. Ultimately, we hope that we can then use those genes to predict the kinds of medical problems a person with NF1 might have.

What are we NOT trying to do?

1. We are NOT testing any new medication or procedure to treat or cure neurofibromatosis type 1.
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 NF1.
3. To enroll in our study, a person needs a diagnosis of neurofibromatosis type 1. We are not able to provide "first time" diagnosis or second opinions.

What is the approach of the study?

We are trying a new approach to find genes that may control the seriousness of neurofibromatosis type 1. Our method looks at how many copies of a gene are made in a cell (called gene expression). We think that big differences in the level of some genes might make a difference in the seriousness of the disease.

Who can participate?

To be in our study, a person must:

1. Have a diagnosis of neurofibromatosis type 1 made by a doctor. If you think that you might have NF1, we can suggest a doctor in your area who might be able to help you.
2. Have gone through puberty. This happens as a teenager. Most people in our study will be 16 years or older.
3. Have both biological parents willing to be involved with the study. It does not matter if they have neurofibromatosis type 1. Because this is a genetic study of families, adoptive or foster parents do not provide the information that we need. We will need to draw some blood from your parents. They do not need to come to NIH to do this (although they are welcome).
4. Be willing to come to the NIH in Bethesda, Maryland. We can pay for travel and lodging expenses.
5. Be able and willing to have an MRI of your spine (this involves lying still for about an hour).
6. Have a doctor to follow-up with you after your visit to NIH. For example, this can be a family doctor, a geneticist, a neurologist or an internist.

There are some reasons that may prevent you from joining the study. If you are pregnant or nursing, we ask that you join after your baby is born or you are finished nursing. Certain medications that you are taking now or have taken in the past may prevent you from joining the study.

What is involved in the study?

After we determine if you are able to join the study, we will ask your help in collecting your medical records. We will help arrange travel for you (and family members, in some cases) for a two-day visit to NIH in Bethesda, Maryland. We will ask your help in contacting your parents to enroll in the study. There will be some forms for you to sign.

At the NIH, we will ask you questions about your medical history and do a physical exam (like in any doctor's office). In addition, we will take some pictures of your eyes and your skin, get an MRI of your spine and draw some blood. We will ask you to consider a skin biopsy. You will stay at a local hotel (under contract to NIH) and not in the hospital.

There may be other studies that need to be done, depending on your medical history. We will explain the need for those studies to you before we order them. There will be plenty of time to discuss the genetics of neurofibromatosis type 1 and answer your questions. We can help you find doctors near you for follow-up.
At the end of your visit we will discuss our findings with you and share the results from your MRI of the spine. We will send you a letter summarizing your visit to you.

What about my privacy?

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 (Dr. Stewart).

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?

We will pay your travel and parking expenses. If you live locally (near the NIH) we cover your expenses to come to NIH for two days, including some meals. If you live further away, we will pay for your transportation to NIH (plane, car, train, etc), hotel, meals and expenses. Travel must be arranged by NIH.

Will I get paid for joining the study?

No, participants in the study do not receive any compensation other than travel and lodging expenses. There may be no benefit to you but we hope the results from the study will benefit families with neurofibromatosis type 1.

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

Yes. Watch these Web pages for updates on enrollment, publications and talks given by Drs. Stewart and Sloan as a result of this study. Direct contact with study participants via mass e-mail is difficult due to rules on patient privacy and confidentiality. We also welcome suggestions on how to make joining and participating in the study easier for patients and families.

How do I enroll?

You may contact either Dr. Jennifer Sloan (genetic counselor) at jsloan@mail.nih.gov or Dr. Douglas Stewart (principal investigator) at drstewart@mail.nih.gov.

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Last Reviewed: September 2, 2008