Diagnostics & Imaging Week
The National Institutes of Health (NIH; Bethesda, Maryland) rolled out plans to launch the first clinical studies of its Rare Diseases Clinical Research Network (RDCRN), which was funded at $71 million for the initiative in 2003.
More than 20 studies are expected to open in the next few months at about 50 sites across the U.S. and in several other countries including the UK, Japan and Brazil.
"The idea is that we're really trying to set up a model of research of rare diseases in which you use multiple research sites throughout the country, and in fact, there are several international studies as well focusing on particular diseases [with] a common protocol for many of the studies," Stephen Groft, director of the NIH Office of Rare Diseases (ORD), told Diagnostics & Imaging Week.
The emphasis will be on the genetic basis of these diseases, in essence requiring more "personalized" therapies.
Groft noted that the program is just launching the studies, although the overall funding from the NIH was made available for the program in late 2003.
"During the past year, we've gotten about 23 studies that have been approved by the NIH to start, and we're just in the process of rolling out the studies to people who have these diseases and provide ready access to research sites," Groft said.
He estimated that there are more than 6,000 rare disorders – specifically defined as a disease or condition affecting fewer than 200,000 persons in the U.S. But the cumulative effect is "a lot," he said. The NIH estimates that such diseases impact 25 million Americans.
A central data and technology coordinating center and 10 research consortia will be established to conduct these investigations.
"By studying the genetic component of these rare diseases, we hope to be able to better predict the course of the illnesses and provide more effective, personalized treatments for those afflicted," said Elias Zerhouni, MD, director of NIH. "Ultimately, this individualized approach, completely different from how we treat patients today, will allow us to prevent or to promptly treat the complications arising from these genetic disorders."
Groft said that when the NIH first began considering the program, it was due to the recognition that the government needed to "do more" to provide incentive to private pharmaceutical companies to conduct such studies, even though the patient populations are small and located across large geographic regions, making studies difficult to conduct.
The RDCRN has received five-year funding awards and is coordinated primarily by two NIH components – ORD and the National Center for Research Resources.
"Increased collaboration among researchers investigating rare diseases will not only lead to discoveries that will help prevent and treat these conditions but may also produce medical advances that will benefit the population in general," said Groft said in a statement, which he told D&IW would likely include the development of specialized diagnostic tests.
The initiative includes interventional trials to test new therapies or drugs, as well as longitudinal or natural history studies that will provide information about the characteristics of rare diseases and their progression over time. The data produced will be made publicly available with appropriate safeguards for patient confidentiality, NIH said.