Determine Patients’ Needs

Natural History Study

Natural history study databases contain more detailed clinical information over time, such as age at diagnosis, symptoms, medical images, and test results. Data may be entered by patients, their caregivers, or healthcare professionals.

  • Type of information stored may include: 
    • Patient contact information.
    • Clinical information as it becomes available, such as:
      • Diagnosis
      • Signs and symptoms
      • Medical images
      • Test results.
    • Patient experiences, such as:
      • Effect on quality of life.
      • Positive and negatives of current treatments.
    • Family and caregiver perspectives.
    • Clinicians experience.
  • Purpose: Data from natural history studies is more complex than that found in contact registries, and can inform every part of the therapy development process, as well as benefit your disease community in other ways. A natural history study registry can:
    • Notify patients within the registry when a clinical trial or research opportunity becomes available.
    • Provide information to help researchers and clinicians understand the disease course over time (natural history), as well as validate animal models.
    • Better characterize the disease. This can include:
      • Range in types and severity of signs and symptoms among patients.
      • Changes in signs and symptoms over time.
      • If genetic, determine whether there is a correlation between genotype and phenotype.
      • Environmental factors.
    • Characterize patient population.
      • Identify subgroups within the population.
    • Understand the day-to-day effects of the disease on the lives of patients and their families from their perspective.
      • Highlight areas of unmet medical need.
      • Uncover environmental and lifestyle factors.
    • Inform research priorities from patient and clinical perspectives.
    • Establish diagnostic criteria.
    • Develop clinical care guidelines.
    • Ensure patients are receiving established clinical guidelines.
    • Identify biomarkers.
    • Collect patient-reported outcomes and other clinical outcomes, which can be used to identify outcome measures to be used in clinical trials. 
    • Increase patient participation and retention in clinical trials.
    • Compile data from the patient perspective that can be used by the FDA as part of their marketing review process.
    • Amass data to advocate for expanded insurance coverage for therapies and services.
    • Track safety and effectiveness of new therapies after FDA marketing approval. 
  • Advantages:
    • If the disease and the patient population are not well characterized, the data from a natural history study can affect every stage of the therapy development process.
    • Rewards the entire disease community quickly through development of clear diagnostic criteria or clinical management guidelines.
    • Raises awareness of disease in medical, academic, and pharmaceutical communities.
    • Provides your patient community with a sense of momentum and increase interest in participation in research.
    • Long term rewards include development of more effective, safe treatments.
    • Ultimate reward is a cure for the disease.
  • Challenges:
    • Can be costly and time consuming to establish and maintain.
    • May have to overcome patient population concerns about sharing health records or personal experiences. 
    • May be difficult to determine the most important information to collect, especially when disease causes symptoms in multiple organ systems. 
    • Requires outreach beyond your group’s members to attain a representative population.
    • Collecting too much data can make analysis more difficult.
    • Requires Informed Consent, Institutional  Review Board (IRB) approval, and Health Insurance Portability and Accountability Act (HIPAA) certification.
  • Grants and more:
    • The FDA Orphan Products Natural History Grants Program is a program funding natural history studies for rare diseases in order to guide therapy development. This funding can also support studies targeted at the validation of biomarkers or the development of clinical outcome measures. 
    • Natural History Clinical Trials (2016) is a video from a session at the Global Genes Rare Patient Advocacy Summit regarding the importance of natural history studies and ways in which they can contribute to rare disease research. The presentation also provides information about resources that can help with engagement in natural history studies.

Resources

Natural History Study
FAQ Orphan Products Natural History Grants Program U. S. Food and Drug Administration (FDA) (link)
OOPD Grant Application Overview U. S. Food and Drug Administration (FDA) (link)
Building a Registry
Rare Diseases Registry Program (RaDaR) National Center for Advancing Translational Sciences (NCATS) (link)