The National Institutes of Health’s National Center for Advancing Translational Sciences (NCATS) has launched a new study to learn how the COVID-19 pandemic is impacting individuals with rare diseases.
Life threatening rare diseases collectively affect an estimated 30 million people in the United States, half of whom are children, according to NIH. The study—to be conducted in conjunction with the Rare Diseases Clinical Research Network (RDCRN) and nine other NIH institutes and centers—will inform how to support the rare disease community during the COVID-19 pandemic, and any future pandemics.
The RDCRN Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center developed the survey and will lead the research, according to NIH. The online survey will interview 5,000 people with a rare disease, or caretakers of those with a rare disease. Authors of the study consider it to be the first of its kind to quantify the impact of a health crisis on the rare disease community in the U.S.
“We hope the study questionnaire will help us better estimate the proportion of rare disease patients who have been diagnosed with COVID-19, and find out how they are affected; whether or not they had COVID-19,” said project principal investigator Maurizio Macaluso, M.D., Dr.P.H. at Cincinnati Children’s. “This survey provides an opportunity for the rare disease community to get timely data on the challenges they face.”
Survey questions will focus on how well patients are able to get the care they need, including mental health care, researchers said. It will also try to discover concerns related to the various specific rare diseases. “Groups of people with different rare diseases and the community will have different needs and concerns, whether it is how to get needed medications or physical therapy to navigating an emergency room in a medical crisis,” researchers added.
NIH researchers said they believe the survey data may help them tease out answers to many other questions related to the rare disease community, including how well certain subgroups fare when faced with COVID-19.
RDCRN Program Director Tiina Urv, Ph.D., said people with rare diseases have concerns about their care during this time of pandemic, including how they will access their medications and the status of clinical trials. “We were hearing enough anecdotally that we wanted to get a clearer picture of the problem,” she said. “This survey is a great example of how the consortia and patient groups are working together as a network to make a difference for the entire rare disease community.”
Ultimately, the researchers hope the survey will help determine how the RDCRN can respond to the rare disease community’s concerns by providing information and advice through its network. The RDCRN—led by NIH’s National Center for Advancing Translational Sciences (NCATS) in collaboration with nine other NIH Institutes and Centers—is comprised of 20 recently funded clinical research consortia focused on rare diseases. It includes scientists from different disciplines at hundreds of clinical sites around the world, working with 140 patient advocacy groups, to study more than 200 rare diseases.
Anne Pariser, M.D., director of the NCATS Office of Rare Diseases Research, said she believes RDCRN is in “a unique position” to conduct the survey. “The network has the necessary infrastructure, disease expertise, and access to patients through patient organizations to find answers to important questions,” she said.
Information on how to participate in the survey can be found here.