Rare disease clinical trials: The need for more patient- and site-centricity

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Treatment of rare diseases, affecting up to 5.9% of the global population (about 300 million people), pose a formidable challenge, with over 7,000 clinically defined rare diseases, 72% of which are genetic and 70% starting in childhood,of which 90% of these are lacking in an FDA-approved treatment. Clinical trials play a vital role in addressing these unmet needs in a bid to improve the lives of patients living with rare diseases.

The global rare diseases treatment market, valued at $119.6 billion in 2021, is set to grow at a compound annual growth rate (CAGR) of 12.8% from 2022 to 2030, reflecting the industry's increasing focus on these conditions. Advanced Clinical partnered on an online global survey to explore the challenges and opportunities in rare disease research, with a particular focus on patient-centricity and site efficiency. This article reviews those survey results along with providing some insightful takeaways on rare disease trials.

Could you tell us why understanding the patients’ perspective is so vital? ​

Rare disease patients often face a challenging diagnostic journey, leading to them being more actively involved in seeking out care. Their unique perspective is crucial in designing studies that minimize patient burden and fit into their daily lives. Hybrid and decentralized clinical trials (DCTs) can offer convenient options, with 85% of survey respondents expressing interest in participating in a clinical research study if home visits were available as part of the study.

Listening to patients’ perspectives can help to provide insights into the daily challenges and treatment adherence issues that patients may face in everyday life. Taking the time to listen to their perspective aids in building trust with patients and overall enhances the clinical research participation experience.

Is there a high interest in rare disease clinical trials? ​

Yes, encouragingly, 95% of survey respondents who participated in a clinical research study expressed willingness to participate again. However, for those who had not yet participated, lack of awareness about relevant clinical trials (56%) and uncertainty about how to participate (28%) were common barriers. Thus, increasing awareness and understanding of clinical trials is vital.

Respondents demonstrated a strong interest in clinical trials, with 86% showing interest in potential new treatments. Importantly, 79% of patients were open to participating at any point in their disease journey, highlighting the need for clarity with healthcare providers to prevent trials from being seen as a last resort.

Are there any current issues with inclusion/exclusion criteria and how engaged are patients with the outcomes? ​

Patients are interested in outcome measures that reflect the impact on their symptoms and daily lives. A protocol that aligns with these needs improves patient-centricity and helps patients understand the potential benefits of new treatments. Patient-reported outcomes are also crucial in therapeutic trials.

Inclusion/exclusion criteria in rare disease trials can be overly restrictive, limiting patient participation. Alternative study designs that consider the real-world patient population, who may have other conditions or take medications, can broaden participation, for example rather than excluding all patients with HIV, only excluding those with a viral load that warrants exclusion due to medical considerations.

What about improving site centricity? ​

Site-centric study protocols reduce the burden on clinical research sites. Challenges like data privacy regulations, and the need for standardized electronic medical records (EMR) use in virtual prescreening and receiving information from home nursing visits must be addressed.

How has the FDA addressed diversity and inclusion in rare disease trials?​

While demographic diversity may be less critical in rare disease trials due to sparse patient populations, genetic conditions may affect specific ethnic groups. Recent guidance from the FDA encourages diversity but acknowledges the challenges in setting enrollment goals in rare diseases specifically.

What do you conclude? ​

Rare disease clinical trials need early awareness and patient participation. To improve engagement, sponsors and CROs should work closely with patients, advocacy groups and healthcare professionals. Clear communication is essential to address patient concerns and misconceptions, ensuring patient safety and the role of placebos are well understood.

Additionally, focusing on patient priorities, broadening inclusion/exclusion criteria can enhance the patient experience. From the site perspective, addressing challenges in implementing DCTs, ensuring data privacy and providing adequate resources are essential. Finally, respecting the time commitment from both patients and sites can help minimize burden and maximize the benefits for all stakeholders.