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The Study of Neurofibroma Growth 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 Tumor Growth 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 adults, how fast (or how slow) do skin neurofibromas grow? By answering this question, we hope to lay the groundwork for future trials of new drugs to control the growth of neurofibromas. We also hope to find genes that control the growth of neurofibromas in 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. Some questions may come to your mind. How many skin tumors will I have? How fast will they grow and how large will they become?

With this study, we are trying to learn how fast or slow neurofibromas grow, and how often they appear. We also are looking for the genes that control the growth rate of the tumors. The results of this study may help us design future trials to test new drugs to treat the tumors. If we can find genes that control the growth rate of the tumors, we hope to use those genes to predict the approximate number of tumors 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 donor. 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 understand better 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 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 and doctors working together. 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?

There are three goals in this study. We hope to understand: 1) How fast (or slow) dermal neurofibromas (skin tumors) grow in NF1, 2) How often new tumors appear, and 3) What genes are involved in the growth of neurofibromas. Ultimately we hope that we can use this information to design trials to test new medicines in NF1 and use genes to predict the number of tumors a person with NF1 might have.

What we are 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 using three different ways to take pictures of small areas of skin of people with NF1. From the pictures we can make very precise measurements of the number and size of the tumors. Over time, we can track how much the tumors change in size, and how many new tumors appear. By doing this we will be able to more accurately say how fast the tumors grow, and how often they appear. These measurements will be important in any future study of a medication to control the growth rate of the tumors. We are also trying a new approach to find genes that may control the growth of the tumors. 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. Be between the ages of 20 and 50 years.
   
   
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 for a one-day visit. At the first visit you will have pictures taken, some blood drawn and the biopsy done. You will then need to return for half-day visits after 3, 6, 12, 18 and 24 months. Only pictures will be taken at the follow-up visits. We can pay for travel and lodging expenses.
   
   
5. Be able and willing to have a skin biopsy and a biopsy of a neurofibroma. This will done with numbing medicine. We will choose the neurofibroma to be removed. You will not be able to join the study if you have a history of bleeding problems. If you are on "blood thinner" medicine we will need a note for your doctor that it is OK for you to stop those medications for several days. We will do some blood tests to make sure you do not have a bleeding problem.
   
   
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 other reasons that you may not be able to join the study. Certain medications that you are taking now or 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 1-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 draw some blood, take some pictures of your skin using several different cameras and remove a neurofibroma and a small piece of normal skin.We may also remove a cherry hemangioma from the skin.

At the end of your visit we will discuss our findings with you and make arrangements with you for the return visits. 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 expenses, subject to NIH regulations. If you live locally (near the NIH) we cover your expenses to come to NIH for the first and follow-up visits. 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 (subject to NIH regulations). There may be no benefit to you but hopefully the results from the study will benefit families with neurofibromatosis type 1 in the future.

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

Yes. Watch this website for updates on publications and talks given by Dr. Stewart and Sarah Coombes as a result of this study. Rules on patient privacy and confidentiality make direct contact with study participants via mass e-mail difficult. 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 Sarah Coombes (genetic counselor) at coombessl@mail.nih.gov or Dr. Douglas Stewart (principal investigator) at drstewart@mail.nih.gov.

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Last Updated: April 6, 2009