Survey to Explore COVID-19 Impact on rare diseases community

Rare Daily Staff

The National Institutes of Health-supported Rare Diseases Clinical Research Network (RDCRN) has launched a survey to determine the impact of the COVID-19 pandemic on individuals with rare diseases, their families, and their caregivers.

Results will shed light on the needs of people with rare diseases during the COVID-19 pandemic and other potential health crises, in addition to informing future research efforts, NIH said.

The research survey, developed and led by the RDCRN Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, is one of the first efforts nationwide to quantify the impact of a health crisis on the rare disease community.

The impetus for the survey began through conversations among network researchers and patient advocacy organizations. Patients, families, and caregivers were worried about how COVID-19 might affect them.

“People affected by a rare disease, and families and caregivers, initially asked how to avoid the virus,” said RDCRN Program Director Tiina Urv. “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.” 

The survey is seeking responses from at least 5,000 people with a rare disease or caring for someone who has a rare disease. The survey will be distributed online to participants. In addition, some RDCRN-funded scientists plan to incorporate survey results into natural history studies, which follow patients to chart the progression and course of a disease. The survey is open to anyone with a rare disease, along with family and caregivers, and is not limited to the diseases studied within the RDCRN.

Questions in the research survey focus on a range of topics, from a patient’s ability to get proper care for a rare disease or condition to mental and emotional health. The survey asks what their concerns are as a person with a rare disease, or as family members and caregivers. 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.

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 of medical experts and patient advocacy groups.

“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 at Cincinnati Children’s. “This survey provides an opportunity for the rare disease community to get timely data on the challenges they face.”

The researchers also think the survey data may help them tease out answers to many other questions. For example, do some subgroups of people with rare disease fare better or worse with the virus? Are certain individuals more prone to infection because of their underlying rare condition or disease?

“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, director of the NCATS Office of Rare Diseases Research, which oversees the RDCRN. “The network has the necessary infrastructure, disease expertise, and access to patients through patient organizations to find answers to important questions.” 

Photo: Anne Pariser, director of the NCATS Office of Rare Diseases Research