When you hear “natural history,” you might think dinosaurs at the museum. But researchers also document the natural history of diseases.
That means gathering information of how a disease affects a person over a lifetime. If the disease is rare, that collected data is especially valuable and can lead to new understandings, breakthroughs and treatments. According to the U.S. National Organization for Rare Disorders, natural history studies can include diagnosis and treatment, testing samples, reports from clinicians and information from patients about their quality of life.
Natural history studies inform researchers about the subtleties of a disease, “things that are not in the textbooks, not in the literature,” Dr. Wen-Hann Tan, a physician in the Division of Genetics and Genomics at Harvard Medical School, said at a recent U.S. Food and Drug Administration webinar about rare diseases.
Since 2014, NORD has provided a growing registry platform for natural history studies along with partners, including the FDA, which supported the program with grant funds. As of late 2020, the IAMRARE program helped collect data for more than 40 rare conditions from 11,000 participants.
In the foreword to a book on the subject, Janet Woodcock, acting Commissioner of the FDA and Director of the Center for Drug Evaluation and Research, explained why natural history data is important in research.
The information collected “represents the enactment of strategies to harness the very type of knowledge so essential for the design and execution of clinical trials of potential new therapies, but which has been lacking in the rare disease space,” Woodcock wrote in “The Power of Patients: Informing Our Understanding of Rare Diseases.”
NORD says registry data can be used to unite the patient and research community; to develop treatments; to improve the quality of care; and to better manage health care.
But collecting that information can be burdensome for patients. Similar to ongoing efforts with clinical trials, researchers want to make it easier for patients to supply data for natural history studies. They want to prevent patients from dropping out because it takes too much time and effort.
“Everyone wants an intervention. No one wants to come in just for observation,” Tan said. “If we can make life as easy as possible for these participants can we retain them longer?”
To that end, programs are now combining study visits with clinical visits and synchronizing patient forms. Investigators also are gathering data through telehealth visits and home recordings.
Having a body of data about a rare disease can speed up work on potential treatments because investigators don’t have to “start from scratch,” Tan said.
Engaging patients and families in gathering their own data also can reduce visits to the clinic, said Martin Ho, Associate Director of Science for Patient Inputs and Real-World Patient Evidence at the FDA’s Center for Biologics Evaluation and Research.
His office recently developed an app that allows patients to enter data via their smartphones. They can receive physical assessments via a tablet device.
Patient-friendly technology and procedures offer a win-win, he said. Researchers benefit from a broader pool of data, which is especially important in rare diseases. And patients ultimately benefit from enhanced treatment based on that data.