Session Topic: Natural History Studies


A natural history (observational epidemiology) study is a type of clinical research project during which investigators collect health status information on human subjects over a time course of the disease or disorder. Unlike clinical trials, the aims of natural history studies are to observe the progress of the condition and not to intervene. Natural history studies are essential components of a comprehensive strategy for research aimed at advancing the detection, diagnosis, treatment, and prevention of diseases and disorders.

Serving a central role in disease research, data from natural history studies can facilitate and accelerate many new avenues of research including studies of pathophysiology, research translation, and disease burden. Natural history studies can also contribute to clinical research infrastructure such as patient registries and repositories of patient samples and images. Additionally, knowledge of the natural history of a disease is essential for the design of efficient clinical trials. Natural history studies can guide the selection of optimal outcome measures and cohort characteristics (age, stage of disease, etc.), thus increasing the likelihood of a successful trial.

NIH plays a very important role in the biomedical enterprise in supporting natural history studies. The pharmaceutical industry invests very little in this kind of study and yet the development of drugs and other interventions is critically dependent on information from natural history of disease studies. NIAMS, through the Extramural Program, supports natural history studies in common disease (e.g, Study of Osteoporotic Fractures, SOF), and rare diseases (e.g, Vasculitis Clinical Research Consortium, VCRC). Furthermore, the NIAMS Intramural Research Program supports natural history studies on myositis, systemic lupus erythematosus, periodic fever syndromes, rheumatoid arthritis, and other rheumatic diseases. There remain significant needs for additional studies in order to fill gaps in the overall NIAMS portfolio, particularly those involving rare and understudied diseases, to facilitate the design of cost-effective and clinically-meaningful trials, and to reassess the natural history of diseases that have evolved and may now be impacted with improvements in the standards of care.

Goals of the Session

  • To consider the role of natural history studies in the Institute’s overall strategy to promote the advancement of research on arthritis, musculoskeletal, and skin diseases.
  • To discuss how knowledge gained through natural history studies could help to overcome obstacles and realize opportunities in the study of common and rare diseases and facilitate the subsequent conduct of clinical trials.
  • To explore strategies for discriminating among opportunities in natural history studies by taking into consideration their feasibility, timeliness, and potential impact.

Key Questions

  • What are the obstacles to investigators for planning and conducting natural history studies in common and rare diseases within the NIAMS mission area?
  • Difficulty in achieving enrollment goals is a common problem with clinical trials and may be especially troublesome with observational studies since they do not offer the patient a treatment option. What are strategies to ensure that enrollment goals are achieved in natural history studies for common or rare diseases?
  • Natural history data can be collected through "stand alone" studies, as components of multi-project grants or centers, through clinical trials, through ancillary studies, or through the mining of existing databases. What are the characteristics of a natural history study that make it better suited for one type of support environment over another? How can NIAMS staff best guide investigators regarding the various strategies for supporting natural history studies?
  • Since it is not practical to conduct natural history studies for each disease within the NIAMS mission, are there groups of diseases that should be combined into larger studies based on common outcomes?
  • Are there novel and cost effective ways to conduct natural history studies through the use of large health care or administrative data bases?
  • How can we take into consideration the feasibility, timeliness, and potential impact of natural history studies in order to discriminate among opportunities for various common and rare diseases and disorders?
  • What are strategies for ensuring that data from natural history studies leads in a timely manner to knowledge about diseases that is applicable to clinical trial design, patient care, basic research, etc.?

Expected outcomes

This session will increase awareness among NIAMS staff regarding the characteristics of natural history studies and their importance in advancing disease research. Attendees will learn about the design of studies that NIAMS supports and the data collected from them. Program staff will be better qualified to guide investigators in the design of natural history studies and in funding strategies for such studies as a result of this retreat session.

Last Reviewed: 03/23/2010