Rare/Orphan Diseases and the African American Community

February 28, 2023

How do we improve outcomes for an uncommon healthcare challenge in a community challenged with common healthcare issues?


The Orphan Drug Act defines a rare disease as a disease or condition that affects less than 200,000 people in the United States. Approximately 30 million people in the United States are affected by more than 7,000 rare diseases.

Many rare conditions are life-threatening, poorly studied, and with minimal, if any, medical treatments. Given the small populations and geographical diversity of patients, relief from rare/orphan disease illnesses is quite difficult.

The African American community can be significantly impacted due to common healthcare inequities to which they can be disproportionately impacted: poor access to primary care providers or preventative care, inadequate or lack of health insurance coverage, limited access to affordable healthcare options, minimal healthcare education, and lack of trust in healthcare providers or the healthcare system.

While it is currently understood that those of African descent have a higher prevalence of certain rare diseases such as sickle cell anemia, the question arises of how we can improve healthcare outcomes for these patients when they are struggling with the healthcare as mentioned above inequities for common diseases (e.g., diabetes, high blood pressure) and now have to deal with a rare disease that may not even have a treatment regimen or years of study.)

The approach will have to leverage multiple pathways of action:

1. Built Trust and Connections with Community

The creation of local, affordable healthcare community centers, is critical in restoring the trust of the African American community with that of the healthcare practitioner community. I-neighboring local. Ideas focused on bridging the gap between the healthcare practitioner, and the patient can turn management of healthcare from being a reactive to proactive activity through the establishment of trust with the healthcare practitioner community. In Chicago and NYC, for example, African American-owned urgent care centers opened as a way to help improve healthcare outcomes in the neighboring local communities.

2. Advocate for the Community.

Patient advocacy groups, such as the Rare Disease Diversity Coalition, have recently been launched to address the challenges faced by rare disease patients of color. This Coalition brings together rare disease experts, health and diversity advocates, and industry leaders to identify and advocate for evidence-based solutions to alleviate the disproportionate burden of rare diseases on communities of color. Groups such as this bring awareness of the existence of rare diseases to groups who may not know where to begin in receiving help.

3. Increase Minority Participation in Clinical Trials.

Given the historical lack of minority representation in clinical trials, several pharmaceutical companies (Pfizer, Boston Scientific-Close the Gap) and patient recruitment groups actively improve minority recruitment in clinical trials. This will allow a more comprehensive understanding of how a treatment can impact individuals across several demographic groups and create a greater sense of awareness and trust in the participation in and execution of clinical trials.

ProPharma’s role as a Research Clinical Organization allows us to use our end-to-end capabilities to partner with Pharmaceutical clients to help them address their needs: rare/orphan disease clinical trial execution, regulatory, quality/compliance, and manufacturing, while potentially complementing other stakeholders in addressing other rare disease-related challenges.

Ultimately, rare/orphan diseases will continue to be a challenge for all communities, including the African American community. Still, we can continue to chip away at improving awareness, building patient trust, and discovering treatments for these diseases via a multi-pronged approach.

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