Drug development for rare diseases: a case for patient-centricity, equity, and access to clinical trials

Abstract Purpose Clinical trials often represent the only viable treatment option for many rare disease patients. However, these patients face significant barriers to participation, including cognitive and physical limitations, geographic disparities, misdiagnosis, and socioeconomic challenges, with minority groups being particularly affected. We chose to focus on clinical trials because they serve as a pivotal step in translating scientific advancements into tangible treatment options, making them a critical area for intervention. While the broader challenges in orphan drug development and commercialization are acknowledged, this study specifically targets the barriers to clinical trial access. Overcoming these obstacles is essential for improving patient outcomes and accelerating the availability of new treatments. By identifying these key challenges and proposing actionable solutions, this paper explores how regulatory frameworks can be adapted to incorporate patient-centric approaches and health equity principles, ultimately enhancing access to clinical trials and treatments for rare disease patients. Method A two-pronged study was conducted. Group A involved a focus group discussion with 19 rare disease subject matter experts (SMEs) in regulation, policy, and healthcare. Group B consisted of 10 individuals directly connected to rare diseases. Semi-structured interviews were conducted to explore participants’ experiences and concerns regarding access to clinical trials, equity, and patient-centricity. The aim was to understand how these factors impact participation in clinical trials and the development of treatments. Results Three major impediments to accessing healthcare for the rare disease population were identified: inconsistent government regulations, inadequate support networks (financial and treatment gaps), and insufficient information on rare diseases. These regulatory inconsistencies, particularly between the USA and other countries, lead to delayed diagnoses and treatments. While emotional support is available, gaps remain in financial and treatment assistance. Additionally, significant information deficits exist for both patients and healthcare providers. Participants underscored the importance of incorporating patients and caregivers early in the drug development process to ensure treatments meet their needs and are inclusive. Conclusion This study highlights the importance of adapting regulatory frameworks to integrate health equity and patient-centric approaches, improving clinical trial access and the overall treatment process for rare disease patients. By incorporating patient voices early in the drug development cycle, clinical trials can become more inclusive and effective, ensuring that treatments are both relevant and accessible to underserved populations.