With the goal of advancing treatment of rare neurological diseases – or rare diseases of any type – the National Organization for Rare Disorders (NORD) has launched innovative new research initiatives in recent years to help patient advocacy organizations develop a precious asset: data to support better understanding of diseases and research that might lead to life-altering diagnostics or treatments.
Dr. Aliza Fink
“Most rare diseases still don’t have approved therapies, and the problem is often a lack of the basic information needed to advance research,” explained Aliza Fink, DSc, the director of research programs at NORD. “Our goal is to help patient organizations play a key role in the collection, analysis, and sharing of data to support better understanding of how a disease presents, its natural history, the types and severity of symptoms, and other unanswered questions.”
Over the past 2 decades, the Internet, social media, and other communications resources have provided patient organizations with unprecedented reach. As a result, these organizations are in a unique position to connect patients and caregivers around the world – those dealing with even the rarest of rare diseases – and become a repository of information on the disease and the patient experience.
Since the late 1980s, NORD has had a research grants program, and the grants this program provides to academic researchers have led to numerous significant discoveries and publications, as well as to two products that ultimately were approved by FDA. More recently, however, NORD’s research programs have been expanded to include an initiative known as IAMRARE, in which patient advocacy organizations are trained to conduct observational research and host natural history studies and registries on a platform developed by NORD.
“We work with the patient groups to determine what types of data would be most important to drive research, help develop the methodology for data collection, and advise them on protocols for supporting the quality and integrity of the data,” Dr. Fink said. “By systematically collecting data from the patients and families they serve, these groups are in a position to contribute enormously to understanding the disease and advancing research.”
NORD also helps with the practical aspects of conducting research of sufficient quality to be publishable, such as providing groups with guidelines and best practices for developing medical advisory committees, creating templates and materials to streamline their project’s submission to institutional review boards, ensuring data security and privacy in accordance with Health Insurance Portability and Accountability Act criteria, and developing other expected standards for data collection and analysis.
Unlike even academic medical centers with an interest in a given rare disease, leading patient advocacy groups for these specific disorders have unmatched access to affected patients and families. This includes patients being managed in diverse settings or those not yet receiving care at all. By harnessing this patient population to record the signs, symptoms, disease course, and other information, the patient advocacy groups can contribute greatly to the pool of available data and ultimately what is known about the disease.