The quest to understand and treat rare diseases poses unique challenges. Rare diseases, often referred to as orphan diseases, affect a small percentage of the population and are often neglected, however, within this complexity lies a crucial imperative: the need to engage marginalised communities in rare disease research and drug development processes.

We know that people experience the same disease differently therefore It’s essential that clinical trials include people with a variety of lived experiences and living conditions, as well as characteristics like race and ethnicity, age, sex, and sexual orientation. By fostering inclusivity, diversity, and collaboration, researchers and drug developers can gain deeper insights into the underlying causes of rare diseases, develop more effective treatments, and advance the cause of health equity for all.

But how do we engage with minority communities, empower them, and create lasting relationships long before we think about enrolling patients in a clinical trial?

Understanding the Minority Experience in Rare Disease
The first step is to understand that being a minority and facing a rare disease can be complex and challenging, often compounded by systemic barriers and disparities in healthcare access. Victoria Arteaga shares the isolation and stigma she faced when her three- year-old daughter was diagnosed in 2018 with SYNGPA,1 a rare genetic disease. As a Latina with a daughter with a rare genetic disease, Victoria quickly understood the unique challenges of navigating the healthcare system by other Hispanic families. “Language, cultural and georgraphical barriers.” From the moment of her daughter’s diagnosis, Victoria and her family have felt it was important to reach out to the Latino and Hispanic communities to promote awareness and support and seek a cure for this condition.

Today, Victoria is the Latin America Director of the SynGAP Research Fund (SRF)

and co-founder of the Sociedad Hispana de Enfermedades Raras (SHER) (Hispanic Society for Rare Diseases). In these roles, Victoria advocates to raise awareness of rare diseases and improve access to resources for this under-represented community. Victoria states: “Creating opportunities for dialogue, listening to concerns, and incorporating feedback into decision-making processes can help ensure that different initiatives are responsive to community needs.”

Empowering Advocacy and Self-advocacy

Education and awareness empower individuals within marginalised communities to advocate for their health needs and rights. By providing information about patient rights, available support services, and avenues for seeking assistance, these initiatives encourage self-advocacy and empower individuals to assert their voices in healthcare decision-making processes.

Deborah Requesens serves as the director of The Orphan Disease Centre’s JumpStart program at the University of Pennsylvania’s School of Medicine State University. The program serves to establish and progress research agendas in emerging and neglected rare diseases. Deborah states: “The JumpStart program works closely with patient groups and foundations, pharma and biotech, and the academic community to drive therapeutic development for rare diseases.”

Deborah, who is also the co-founder of SHER, shares the importance of engaging with minority communities to build capacity and trust. “It is crucial to engage with underserved populations, such as the Hispanic and Latino communities, early and often, in the drug development process. It takes time to build trust and these interactions will ensure the development of therapies with the entire population in mind.”

Lack of cultural and linguistic competency among healthcare providers can impact the quality of care received by Hispanic and Latinx individuals with rare diseases. “Effective communication, patient education, and culturally sensitive approaches to care are essential for ensuring understanding, trust, and adherence to treatment plans,” says Deborah. “We need to also empower and equip the healthcare providers, who may be from under-represented backgrounds themselves, with the information to share with patients and their families. Representation in all areas of healthcare is key.”