PharmaVOICE Blog Post

Insights on Natural History Studies in Rare Diseases and Genetic Biomarkers

Posted By: Dan Limbach
April 1, 2019

Provided by Evidera

The increasing development of orphan drugs and precision medicine has led to novel needs in terms of real-world evidence generation. A key area recently highlighted in the FDA’s updated draft guidance on rare diseases is the recommendation of natural history studies to better characterize patient populations and delineate target populations. Natural history studies are epidemiological studies that focus on describing the frequency, features, and evolution of a disease by collecting real-world data from groups of patients suffering from this disease. These studies are often performed by biotech and pharmaceutical companies early in the clinical development process to support and guide the design of clinical trial and drug development studies.

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In the last few years, natural history studies have started to include genetic testing to describe specific genetic profiles as part of the features of the patient population, or as a screening criterion to identify the target population. The introduction of genetic testing within a fully noninterventional setting poses regulatory and ethical issues that are addressed differently by approval bodies (ethics committees, regulatory agencies, privacy committees, etc.) across the globe, highlighting the need for ongoing interpretation of the current regulations.

 Key points in the paper:

  • Increased focus on rare diseases and precision medicine
  • The role of natural history studies in the drug development strategy
  • The emergence of genetic biomarkers in real-world evidence generation
  • Regulatory Interpretation of Genetic Testing in Natural History Studies
  • Operational Approach to Natural History Studies with Genetic Testing

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About the Blog Poster: Dan Limbach

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