A recent associated disease summit brought together the rare disease community to discuss challenges in increasing disease awareness and clinical trials participation among underserved communities. The summit, organized by the Pulmonary Hypertension Association, included representatives from 34 organizations.
This is PHA’s third virtual summit on pulmonary hypertension and associated conditions. Participants included representatives from patient advocacy organizations, people with rare diseases and other stakeholders. They discussed the complexities of PH and how it intersects with other chronic conditions, explained Sara Tyghter, PHA’s director of Advocacy and Patient Engagement.
“It is important we focus our efforts to reach populations who may not have access to information about pulmonary hypertension and/or associated conditions to raise awareness about these conditions, hopefully leading to earlier diagnosis and treatment,” Tyghter said.
The half-day summit began with a presentation by Christopher King, MD, who explained that PH is more prevalent among patients with a large variety of diseases and conditions, although it’s rare in the general population. Those conditions include connective tissue disorders, sleep apnea, thyroid disease and stimulant use.
Patients including Chasta Posey (representing the Foundation for Sarcoidosis Research) and Jenna Olitsky (who has hereditary hemorrhagic telangiectasia) provided insights into their experiences living with two rare diseases. They described the difficulty in getting diagnosed for PH, finding community and participating in clinical trials.
Vinicio de Jesus Perez, MD, outlined some ways he works to improve access of care and promote diversity in medicine for those who come from resource-limited areas around the world, where PH causes differ. Since people immigrate from all over the world to the United States, he screens symptomatic patients from certain regions for rheumatic heart disease, high altitude PH and schistosomiasis, for example.
De Jesus Perez advocates for creating a global database of patient data, developing tailored guidelines for limited resource settings and establishing centers of excellence around the world where expertise exists. Providing access to approved drugs for those who participate in clinical trials is another way to address equity and inclusion issues among underserved communities, he said.
A zip code is a more accurate predictor of health than your genetic code, said Debbie Drell, director of membership for the National Organization for Rare Disorders. In a recent NORD survey of those with rare diseases, Drell said she was shocked to see one in five respondents experienced housing instability, food insecurity or worried about basic needs.
Mary McGowan, CEO of the Foundation for Sarcoidosis Research, described the success of an awareness campaign on African American Women and Sarcoidosis that reached over 500,000 people, along with a drive to improve clinical trial engagement with Black Americans called Accelerate Clinical Trial Equity in Sarcoidosis (ACTe NOW!).
The most common barrier they found among survey respondents was a lack of information, McGowan said. Trust, expense, lack of job flexibility and additional education about clinical trials also were cited as barriers.
