Frequently Asked Questions about the NCI study and fibrolamellar research

Below are a series of common questions about the National Cancer Institute’s “Natural History Study of Rare Solid Tumors” and its importance to fibrolamellar research.

The Natural History Study of Rare Solid Tumors studies people with rare tumors over time. The goal of this study is to collect information from rare tumor patients to learn how each tumor type grows and develops. This will help researchers understand these rare tumors better so that they can develop new treatments.

One of the reasons that natural history studies are so important to rare diseases like fibrolamellar is that they help the disease to be better understood. A natural history study examines the characteristics of the disease and how they progress over time, and potentially identify patterns that might otherwise go unnoticed. A longitudinal natural history study can track the complete course of the disease from its inception. It is intended to describe all aspects of the disease and identify the demographics, genetics, environmental impact, and other variables that correlate with the disease and outcomes.

Once significant natural history study data is available for a disease like fibrolamellar, it can help with patient care. It can help identify the best practices of care as well as point out key research priorities. It can potentially identify meaningful biomarkers. Information obtained from a natural history study can also play an important role in drug development, from drug discovery to the design of clinical studies intended to support a drug’s approval. Because patient outcome measures are the basis for determining the success of clinical trials, the significance of natural history data cannot be over emphasized. Without a natural history study in place defining the progression of fibrolamellar, it could be difficult to determine how any new therapy has changed the disease progression. In addition, a natural history study could be potentially used to support regulatory submissions in rare diseases like fibrolamellar, since patient populations are small and the opportunity to include a placebo or control group in trials may be limited.

A natural history study looks at the natural changes caused by a disease over time in a patient population. The importance of the natural history is that it provides researchers with a baseline to examine how the disease progresses so that future studies of treatment options can determine if the treatment is effective. In some cases, the natural history study could potentially serve as the ‘control group’ for a clinical trial. It may also allows researchers to see previously unforeseen patterns in the disease progression. Because it is a study, the results will be compiled, published and shared.

A registry on the other hand is not a study. It is a set of data. A natural history study usually has a start and stop point and a defined set of questions asked and analyses conducted.  A registry is continuous.   The information in the registry may sometimes be the same as that in a natural history study, and a natural history study often uses data from a registry, but a registry is not a study. It is data set that could be used to conduct studies, including those that assess natural history, diagnosis, treatment, quality of life, healthcare providers, clinical reporting, clinical testing, etc.

FCF believes that the NCI study is an important initiative for the fibrolamellar community to support for several reasons. Because it is an established study, it allows a faster “time to market” than developing a new independent study. In addition, it will

  • Provide the opportunity to involve researchers from the National Cancer Institute, a world-class research institution, directly in fibrolamellar-related research
  • Leverage existing federal funding from the “Cancer Moonshot” initiative, increasing the total research funding focused on fibrolamellar
  • Offer direct benefits to participating fibrolamellar patients, since the study team will share any clinically actionable mutation information discovered from genetic testing with the patient and his/her medical team
  • Enable significant leverage and operational efficiencies, since many elements of the natural history studies will be shared across many rare cancer types
  • Incorporate fibrolamellar-specific analyses and questions in the study.

The Natural History Study of Rare Solid Tumors is not a treatment trial, so it is not testing whether an experimental treatment will work or if it is safe. Because you are not exposed to an experimental treatment, natural history studies are considered very safe and have very minimal risks.

NCI will collect medical records and imaging from you or your physician to be reviewed by the study team. They will also collect samples of your tumor that may be available from a prior biopsy or surgery. You will be asked to send a saliva sample to NCI. Additionally, you will be asked to fill out questionnaires about your medical history, your family’s medical history, and how having a rare tumor impacts your life, all of which you can do online from home or through paper forms the NCI will mail to you. Based on a review of your medical records, you may be invited to the NIH Clinical Center to meet with experts who will perform additional tests and answer questions. You may also be invited to participate in focus groups about how living with a rare tumor affects your life, but you do not have to participate in these groups. All participants will receive an annual follow-up form from NCI to record any changes in their health.

Your saliva and tumor samples will be used to perform genetic testing. NCI will combine your data with data from other people with fibrolamellar. If they collect blood, they will look at what kinds of cells and molecules are in your bloodstream that might affect your tumor. They will also look at immune cells in your tumor samples. Your samples may also be stored for future research. NCI may share the information they learn with other scientists while protecting your privacy to allow many researchers to work on new treatments for fibrolamellar.

Some of the results will be returned, but some will not. The NCI study team will test your tumor for common cancer mutations and the results may suggest drugs that could treat your tumor. If the study team suspects that cancer may run in your family, they may test your blood or saliva for mutations, as well. If any clinically actionable mutations associated with your disease are identified in your tumor samples, the NCI study team will contact you and your doctor to share those results.

Some of the genetic testing the NCI study team will perform is to find new mutations and this is not the same as having genetic testing ordered by a doctor. If new mutations are identified, the NCI team will share with you the combined results from many people with your tumor, but will not tell you the results from your tumor alone.

The study will not charge you or your insurance company for any genetic testing that is done.

Yes. You can continue to receive treatment for fibrolamellar while participating in the Natural History Study, but you will not receive treatment through the study itself since it is not a treatment trial. You can continue to receive any care recommended by your medical providers or participate in any ongoing clinical trial. If the study team is aware of any clinical trials you may be eligible for, they will help you learn more about those trials.

For more information about trials enrolling fibrolamellar patients, visit FCF’s clinical trials page.

No. Participants can provide saliva samples and other information from home. However, based on a review of your medical records, you may be invited to the NIH Clinical Center at a future date to meet with experts who will perform additional tests and answer any questions you may have.

This study is open to broad participation by fibrolamellar patients who are under 39 years old. In order to perform the planned genomic testing, patients would ideally have had surgery to remove their tumor within the last 5 years, since degradation of older tissue can limit its usefulness for certain types of genetic analysis.

The NCI study and the FCF Biobank are separate and distinct initiatives. Participation in both projects is possible and encouraged. Patients can enroll in the NCI natural history study whether or not they have previously contributed tumor tissue to the FCF Biobank. If you have already contributed tissue to the FCF Biobank, Patty Cogswell, our Repository Manager, will contact you about having tissue sent to the NCI study on your behalf. We want to simplify and streamline the tumor donation process for fibrolamellar patients across all research initiatives. If you have surgery after beginning participation in the natural history study, tissue delivery to both initiatives can easily be coordinated.

One of the key roles that the FCF Biobank plays is to make tissue samples available to all researchers of the disease. The FCF Biobank has also been working closely with organizations such as the Broad Institute to use tissue donations to create tumor cell line cultures (cancer cell lines grown in petri dishes), organoid cultures (groups of cancer and supporting cells grown together) and xenograft models (cancer cells grown in special mice that lack immune systems). Each of these type of cancer “models” has strengths and weaknesses, but all are crucially needed by research teams to understand fibrolamellar biology and identify new treatment strategies.

To learn more or to enroll in the study, you can:

In addition, FCF is planning to host a virtual question and answer session with one of the leaders of MyPART where you can ask your questions directly to a member of the study team. Please contact us at if you are interested in attending that event once it is scheduled.