Know Your Disease Landscape

Learn What is Known About Your Disease

You need to know what information has been published about your rare disease because it will help you identify any gaps in research, determine next steps, and prioritize your registry goals.

Explore these online resources:

• Genetic and Rare Diseases Information Center (GARD) provides easy-to-understand information about rare and genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS).
• Orphanet has a directory of ongoing research projects, clinical trials, registries, and biobanks.
• PubMed is a resource of the National Center for Biotechnology Information (NCBI), at the U.S. National Library of Medicine (NLM), located at the National Institutes of Health (NIH). PubMed has over 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. It is not only a great resource for finding information about rare disease research and for finding researchers.
• GeneReviews is an online resource written for and by healthcare providers that offers diagnosis, management, and other information about genetic conditions.

Find answers to these questions

Below are questions you may want to explore to learn more about your disease. As you begin gathering information, you may discover additional relevant information. If you can’t find information on a topic, you can make a note to discuss it with researchers.

• Disease features
  • What are the disease features (both frequent and rare)?
  • What organ systems are affected?
  • Is there variability in presentation of disease features from person to person? Is this variability observed even within the same family?
  • Are certain disease features only present in a subset of people living with the rare disease (e.g., age group, sex, geographical location)?
  • How do disease features vary or progress over a person’s lifetime?
• Cause
  • What is the cause?
  • Is there a known or suspected genetic and/or molecular cause?
  • Have any causes been ruled out?
  • Is the physiological basis of the disease known?
  • If the cause is genetic, is it inherited? Is the mode of inheritance (e.g., autosomal dominant, autosomal recessive) known?
• Diagnosis
  • Is there a specific age or age range in which people get diagnosed?
  • How is the disease diagnosed?
  • If the disease is genetic, is genetic testing available?
  • Does there appear to be a delay in diagnosis?
  • Does an ICD (International Classification of Diseases) code exist for the disease?
• Life expectancy
  • What is the life expectancy of the disease?
  • Does the life expectancy vary? If so, have the factors that can affect life expectancy been identified?
• Prevalence
  • How many people have been diagnosed with this rare disease?
  • Is it more common in a geographical location, ethnic group, sex, and/or age group?
• Treatment
  • Is there treatment available?
  • How many people respond to the available treatment?
  • How safe is the treatment?
  • Does it interfere with other medications?
  • How expensive is the treatment?
  • How is disease progression affected by available therapies?
• Other diseases
  • Are there other diseases with similar symptoms?
  • Do these diseases have treatment? Could the same treatment potentially be used to treat your rare disease?
  • Are the gene(s) or biological pathway involved in your disease associated with any other diseases?

Determine What Research is Being Done

Knowing what research is underway will provide insight into what is known about your disease and the current focus of researchers.

As you search the resources below, try to find out:

• What is being studied?
• Who is doing the research?
• Where are these researchers located?

Explore these online resources:

• ClinicalTrials.gov is a database of privately and publicly funded clinical studies carried out worldwide. It is a resource of the U.S. National Library of Medicine (NLM) at the National Institutes of Health (NIH). Read the “For Patients and Families” page to learn more.
• NIH RePORTer (Research Portfolio Online Reporting Tools) provides access to reports, data, and analyses of NIH research activities, including information on NIH expenditures and the results of NIH-supported research.
• ResearchMatch is an online tool created by academic institutions across the United States to assist people in finding research studies.

Identify Registry Stakeholders

You can set your registry up for success by identifying stakeholders early in the registry development process. Involving these individuals can help ensure that you have brought together people who possess the necessary skills and expertise to create and manage a registry. Speaking with the different members of your community either online (e.g., through forums, social media, websites) or in person (e.g., through talks, conferences, events) can help you determine the current understanding of your disease. Determine the main objectives of each stakeholder and clearly define the expected contributions for each role.

Registry stakeholders may include the following:

• Patients and their families/caregivers, patient advocacy groups
• Academic researchers
• Healthcare professionals who specialize in your disease
• Professional societies
• Biopharmaceutical industry partners
• Government and/or regulatory agencies

Resources