Pushing for Better Clinical Trial Design for Rare Diseases

Clinical Researcher—October 2023 (Volume 37, Issue 5)


Haley Quinn




Imagine a world where a rare disease diagnosis no longer spells a journey of uncertainty and pain. Instead, it begins a collaborative journey where patients, healthcare professionals, and researchers unite to uncover personalized solutions. In this world, trial design isn’t constrained by rigid parameters; it flourishes in the realm of possibility, embracing the nuances of each patient’s experience.

Amid the consistent stream of medical breakthroughs and groundbreaking treatments making waves in the news, it’s all too common to inadvertently disregard the plight of millions living with rare diseases. These conditions, frequently concealed in obscurity, present intricate challenges that elude swift diagnosis and effective treatment. New research has highlighted the dire consequences of neglecting these conditions, pointing to the critical need for better trial design and patient engagement.

Consider this staggering statistic: A recent study found a lack of treatment for rare diseases is associated with a 21.2% increase in total costs per patient per year. When extrapolated, the societal cost of neglecting the 7,000 known rare diseases in the U.S. could range between $7.2 to $8.6 trillion annually. It’s a much-needed wake-up call, underscoring the urgency of clinical research that can help to alleviate the burden of living with rare diseases.{1}

Let’s explore the convergence of patient experiences, trial design, and collaborative endeavors poised to reshape the healthcare landscape. As we navigate through the intricate layers of this topic, we will uncover how the consideration of patients’ backgrounds, daily symptom management, and a holistic approach to trials can ignite transformative change.

The Evolution of Trial Design: Beyond Traditional Parameters

Traditionally, clinical trial design has adhered to specific parameters that, while structured, may not fully encapsulate the reality of patients’ lives. The journey of a rare disease patient is often laden with complexities that extend beyond the boundaries of these parameters. As we shift our perspective, we understand that a more comprehensive trial design can yield richer insights and more effective treatments.

Picture a patient diagnosed with a rare disease who has faced numerous challenges, from misdiagnoses to ineffective treatments. These struggles are rooted in their unique experiences, often overlooked in antiquated clinical trials. By incorporating real-world data, predictive analytics, and technology, we can expand the horizons of trial design. This evolution allows us to consider not only medical factors but also patients’ geographic locations, socioeconomic backgrounds, and the overall impact of their condition on their daily lives.

Since rare diseases often exhibit unpredictable symptom fluctuations, tailoring trial schedules to accommodate these fluctuations can reduce patient burden and provide a more accurate assessment of treatment effectiveness. For instance, flexible appointment times or remote monitoring may enhance patient engagement.

A Collaborative Approach: Paving the Way for Patient-Centric Care

The heart of revolutionizing trial design lies in collaboration. Pharmaceutical companies, advocacy groups, healthcare professionals, and patients must unite to drive change. The patient journey, fraught with uncertainties and challenges, becomes the compass guiding these collaborative efforts. The results can be remarkable when patients are empowered to actively participate in shaping their treatment paths.

Envision a clinical trial that not only evaluates the efficacy of a treatment but also considers the financial burden on patients, the emotional toll of their condition, and the accessibility of the treatment itself. Such trials yield more robust data and foster a sense of inclusivity and understanding.

In the context of rare diseases, patient experiences are often defined by their day-to-day symptom management. Incorporating patient-reported outcomes into trials allows patients to report on their symptoms, providing valuable insights into treatment efficacy beyond traditional clinical metrics. For example, tracking pain levels, fatigue, or mobility can reveal the true impact of a treatment on a patient’s quality of life.

When patients are heard and their experiences acknowledged, they are more likely to engage fully in the trial process, leading to more accurate results and, ultimately, more effective treatments.

Empowering Patients: A Catalyst for Change

In the United States, the prevalence of rare diseases is an often-overlooked reality, with nearly 10% of the population, equivalent to around 30 million individuals, affected by a rare disease. What’s even more disheartening is that an estimated 95% of these rare diseases lack a U.S. Food and Drug Administration (FDA)-approved treatment, leaving patients in a state of uncertainty. For the 5% that do have available treatments, the path to access remains riddled with barriers, including exorbitant costs, protracted timelines, and a critical lack of comprehensive support.{2}

My own journey as a rare disease patient underscores the transformative potential of patient empowerment. For 26 years, I grappled with an undiagnosed condition, enduring countless surgeries and dislocations. My experience prompted me to shift my focus toward building communities and support systems for individuals like me. I realized my story was not a singular instance—countless others were navigating similar challenges. This realization eventually led to receiving a diagnosis and has fueled my commitment to optimizing the patient journey within clinical trials.

Through collaborative efforts and a patient-centric approach, I found the specialized care I needed. My journey culminated in achieving seemingly simple goals that held monumental significance for the quality of my life, such as performing daily tasks like walking my dog or putting on a shirt without the constant fear of dislocations. My experience is a testament to the impact of both novel and personalized care.

A Vision for Tomorrow: The Future of Healthcare

As we envision the future of healthcare, a new definition of success emerges—one that extends beyond clinical outcomes and profitability. Success, in this context, is measured by the positive impact on patients’ lives, the reduction of societal healthcare costs, and the empowerment of individuals to navigate their health journeys with dignity and hope.

Patient engagement isn’t a mere checkbox—it’s a fundamental pillar of healthcare transformation. Patients become active partners, contributing insights that drive the development of treatments tailored to their unique needs. Through open channels of communication, patients and researchers exchange knowledge, share successes and challenges, and co-navigate a journey to improved health.

Technology plays a pivotal role in this transformation. Predictive analytics harness the power of data to anticipate patient needs and optimize trial outcomes. Real-world evidence becomes a treasure trove of insights, painting a better picture of patients’ lives beyond the confines of clinical settings. Telehealth and digital platforms ensure patients have continuous access to care and support, breaking down geographical barriers and improving quality of life.

In this future, the healthcare ecosystem thrives on collaboration. Pharmaceutical companies, advocacy groups, policymakers, medical providers, and patients converge to drive change that ripples through the industry. The focus shifts from short-term gains to long-term impact, and from isolated efforts to synchronized movements for change.

Patient-centric trial design isn’t a solitary destination—it’s a roadmap to a future where healthcare is a collective endeavor, where the stories of patients shape the narrative of progress. Together, we can bridge the gap between treatment and transformation, forging a healthcare landscape that is economically sound, emotionally resonant, and undeniably patient-centric.


  1. Andreu P, Karam J, Child C, Chiesi G, Cioffi G. 2022. The Burden of Rare Diseases: An Economic Evaluation [Chiesi USA, Inc. white paper]. https://chiesirarediseases.com/assets/pdf/chiesiglobalrarediseases.whitepaper-feb.-2022_production-proof.pdf
  2. NIH National Center for Advancing Translational Sciences. 2023. Delivering Hope for Rare Diseases. https://ncats.nih.gov/files/NCATS_RareDiseasesFactSheet.pdf

Haley Quinn (Haley.Quinn@citeline.com) is the Go To Market Director of Patient Engagement and Recruitment at Citeline, a Norstella company. As a creator, storyteller, and advocate, she builds bridges for people across the world to make informed decisions about their healthcare. She creates purposeful communication and launch strategies grounded in the commonality that is our human experience, always evolving and asking questions.