The more we know about rare diseases, the more likely we are to find safe and effective treatments

By: Janet Woodcock, M.D.

Janet WoodcockYou may be inclined to think that rare diseases affect only a tiny fraction of the more than 320 million people in our country. That’s true about a single rare disease. But there are about 7,000 rare diseases. If you add them all together, there are about 30 million – or almost one in ten — people in the U.S. with some form of rare disease. Sadly, although great progress has been made in some areas, many of these people have no FDA approved drug to cure their condition, help them feel better, or even slow the disease’s progress.

That’s why I am pleased about FDA’s support for an exciting new tool researchers are using to study rare diseases. It’s a new database with information about the diseases’ “natural history.”

“Natural history” is the scientific term to describe how a disease would progress with no treatment. Since a disease can affect different people differently, scientists must study many cases of a disease to acquire a thorough understanding of its natural history. Well-conducted studies of natural history can yield vital information about:

  • Biomarkers, demographic, genetic, and environmental variables that correlate with the course and stages of the disease;
  • Identification of patient subpopulations with different characteristics and effects of the disease;
  • Patient perspectives on what aspects of disease are most important to treat; and,
  • How to quantify those aspects so that they can serve as useful outcome measures for clinical trials.

But when it comes to rare diseases, their natural histories frequently are not fully understood because there are simply not enough cases that have been observed and studied. This lack of knowledge limits researchers’ ability to study rare diseases and develop new treatments. Knowledge of natural history is essential for developing more efficient clinical trial designs. It also could help reduce the length and cost of drug development and, possibly, contribute toward greater predictability of clinical development programs.

Recently The National Organization for Rare Diseases (NORD), has teamed up with the patient advocacy group that represents people with the rare disease known as Von Hippel Lindau disease. This is a condition with many debilitating symptoms that also predisposes individuals to benign and malignant tumors. The Von Hippel Lindau Alliance and NORD have created an online tool that enables people with this rare disease to enter information about their experiences with the disease, such as the progression of symptoms, and to add to this information at intervals throughout their lives.

This tool is now helping researchers compile valuable data about the natural history of Von Hippel Lindau disease. The even better news is that this tool is universal.  If it can be used effectively to help researchers better understand Von Hippel Lindau disease, it can do the same for other rare diseases as well!

Importantly, this online tool was developed with direct input from patients, as well as patient organizations, researchers, FDA, and other international drug regulatory agencies.

The natural history tool has important features such as these:

  • It protects  the security and privacy of personal information, while making valuable information available to a researcher or drug developer interested in creating a new therapy for a rare disease;
  • It can be used by patients or health care professionals;
  • It helps make sure that text and online tools data are accurate.

FDA is committed to working with patient advocates and other organizations to support natural history studies for rare diseases.  We encourage the use of natural history data collection tools to describe natural history for many rare diseases. It is our deeply felt hope and wish that we can then take steps toward developing and approving new therapies for persons with rare diseases.

Janet Woodcock, M.D., is the Director of FDA’s Center for Drug Evaluation and Research

For more information about the NORD patient registry tool, visit their website:

And please read: A Pivotal Moment for the Treatment of Rare Diseases — Address by Dr. Margaret A. Hamburg to the NORD Rare Diseases and Orphan Products Breakthrough Summit

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