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Rare Diseases

Why the Patient Voice Is Key to Progress in Rare Disease Research

Vanessa Boulanger, M.Sc.

Director of Research Programs, National Organization for Rare Disorders

Since the NORD Research program launched over 30 years ago, our belief in the power of research to create meaningful change for people living with rare diseases and their families has only strengthened. 

Today, patient registries — studies based on patient-reported information used to collect and store data about a disease or condition, procedure, treatment, or medical device — are changing the landscape of rare disease research. Patient registries provide valuable information about a disease to help scientists develop treatments by identifying candidates for clinical trials, building connections among patients, supporting specific research goals, and helping to develop standards of care for patients.

These registries, along with natural history studies, are transforming how patients and caregivers inform and shape medical research and science for rare diseases. 

In 2014, NORD developed and launched the IAMRARE™ registry program with guidance from patients, caregivers, researchers, and clinicians, as well as key opinion leaders from regulatory agencies, including the U.S. Food and Drug Administration (FDA) and National Institutes of Health. Through building strong partnerships within the community and working with leading scientific experts, NORD’s registry program is well-positioned to address knowledge gaps and help facilitate the development of discoveries that can save lives.  

Identifying challenges

In 2019, NORD and Trio Health published “The Power of Patients: Informing Our Understanding” based on natural history data collected in NORD’s registry program. In the book, six rare disease organizations partnered to share patient stories and first-hand experiences to complement findings from the natural history studies, bringing to light many of the challenges and frustrations faced by the rare disease community. 

Making the most of the valuable information collected through patient registries with the goal of speeding much-needed rare disease drug development is at the heart of a new project called the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP). Funded by the FDA and in collaboration with the Critical Path Institute, RDCA-DAP represents a new hope for treatments for the millions of Americans impacted by rare diseases. 


By bringing data contributed by patients together with electronic health records, genomic testing results, clinical trial data, and more, machine learning and the latest technology can be used to further undertake cross-disease analysis and build models that can illustrate what the progression of a disease looks like. That means better clinical trial modeling, faster rare disease characterization, and a more efficient process for drug development for rare diseases. 

RDCA-DAP means developing the cures of tomorrow today, if patients, caregivers, advocacy groups, scientists, clinicians, and industry all work together.

Together we are strong

Through these and other initiatives, including FDA Listening Sessions and disease-specific, Patient-Focused Drug Development meetings that culminate in valuable “Voice of the Patient” reports researchers and drug developers can use, patients and caregivers are increasingly playing a central role in working toward a brighter future. 

With 90 percent of the more than 7,000 rare diseases still lacking an FDA-approved treatment, that progress is vital to the lives of the more than 25 million Americans affected by rare diseases. As we say at NORD, “Alone we are rare. Together we are strong.”

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