Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other disease-related issues and those brought by the pandemic.
Developed and led by the RDCRN Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, the research survey is one of the first nationwide efforts to measure how this public health crisis is challenging the 30 million people in the U.S. estimated to have one of about 7,000 known rare diseases.
The survey was prompted by discussions among scientists and patient advocacy groups about concerned voiced by patients, families, and caregivers regarding COVID-19. It aims for responses from at least 5,000 individuals with a rare disease or those caring for that person.
Participation is open to anyone diagnosed with a rare disease, defined in the U.S. as a disorder affecting less than 1 in every 200,000 people, up through 89 years old. Only adults can complete the survey, which RDCRN anticipates takes about 20 minutes.
“People affected by a rare disease, and families and caregivers, initially asked how to avoid the virus,” Tiina Urv, PhD, RDCRN program director, said in a press release. “Then they became concerned about access to medicines and maintaining medical care during the pandemic, and the status of clinical trials.
“They were concerned about meeting the medical challenges that they face every day. We were hearing enough anecdotally that we wanted to get a clearer picture of the problem,” Urv added.
Investigators also hope to incorporate survey results into natural history studies of these chronic and often genetic diseases.
Survey topics cover a range of issues, and people from given rare disease communities are expected to have needs and concerns that differ from other communities. Those concerns can include how to get medications or physical therapy, or how to navigate an emergency room if the situation arises.
“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 Maurizio Macaluso, MD, of Cincinnati Children’s, and project principal investigator. “This survey provides an opportunity for the rare disease community to get timely data on the challenges they face.”
Survey results may also help to answer questions about whether some patient subgroups fare better or worse after contracting COVID-19, or whether some are more susceptible to infection due to their disease.
Its overarching is to determine how the RDCRN, through its network of healthcare specialists and patient advocacy groups, can help to address concerns expressed by rare disease communities.
“As a leader in fostering innovative, collaborative clinical research to improve the lives of individuals with rare diseases, the RDCRN is uniquely positioned to carry out a survey like this,” said Anne Pariser, MD, director of the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research. “The network has the necessary infrastructure, disease expertise, and access to patients through patient organizations to find answers to important questions.”
The RDCRN is part of the Office of Rare Diseases Research, and is led by the National Institutes of Health’s NCATS in collaboration with nine other NIH agencies. It is composed of 20 funded clinical research groups working to better understand how rare diseases progress, and to develop better ways of diagnosing and treating them.
In collaboration with about 140 patient advocacy groups, researchers from multiple disciplines globally study hundreds of rare disorders. Worldwide, an estimated 400 million individuals are thought to have a rare disease.
“The 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,” Urv said.
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