From Awareness to Action: Advancing Rare Disease Research Through Patient-Centered Clinical Trials

Updated on February 24, 2024

Rare Disease Day is an annual observance marked on the rarest day of the year, February 28th or 29th, depending on leap years. This global event aims to heighten awareness for over 7,000 identified rare diseases, enhance accessibility to medical treatment, and provide support for patients and their families.

The European Organization for Rare Diseases (EURODIS) initiated Rare Disease Day in 2008 as a platform for local, national, and international advocacy efforts. Since its inception, the day has played a pivotal role in building a global community focused on rare diseases, with EURORDIS collaborating closely with organizations such as the National Organization for Rare Disorders (NORD) in the United States.

For individuals diagnosed with rare diseases, the path from diagnosis through treatment can be fraught with challenges. The rarity of these diseases often leads to feelings of isolation, fear, and uncertainty among patients. With less than 10% of rare diseases having a US FDA-approved treatment option, there is a pressing need to expedite the development of new drugs and therapies. This push for innovation is essential for enhancing the quality of life for those affected by rare diseases.

Clinical trials stand as vital pillars of hope, shaping the future of healthcare by advancing the understanding of these rare diseases and formulating potentially lifesaving treatments. Yet beneath the surface of these breakthroughs, a myriad of challenges and pain points often prevent most trials from being completed. While trial efficiency has steadily improved over the last decade, patient recruitment, engagement, and retention continue to be pressing issues. By offering comprehensive patient support services throughout the duration of a trial, study sponsors and CROs can revolutionize the clinical trial landscape, improve patient experiences, and contribute to better overall trial results.

Global Dispersion and the Nature of Rare Trials

In rare diseases, patient populations are small and often dispersed across the world, presenting challenges to building and executing centralized clinical trials and managing the logistics related to protocol visits. Such difficulties are compounded by the fact that only a few dedicated treatment sites are available worldwide for a given rare disease, further complicating participant access to those sites. Achieving objectives of rare disease clinical research thus requires a global approach. 

Another issue with rare disease studies is that most of these conditions are inherited. Genetic dysfunction is a root cause of about 80% of rare diseases. In many cases, a patient cluster might be located in a geographic location far from a clinical site. For example, such a site in Europe might be the only place where researchers focus on a specific rare disease, but a cluster of patients who would benefit from that potentially life-extending research might reside in rural Asia. Because over half of rare diseases manifest in pediatric populations, entire families may need to travel or even relocate for a period of time for a minor to participate in a trial. 

The symptoms of many rare diseases are frequently progressive in nature, often causing declines in cognition and mobility. This decline further complicates the problems related to limited trial sites and dispersed populations, requiring complex logistics coordination to connect patients and caregivers with clinical sites for treatment. Sustaining participation through study completion can be difficult for trial coordinators and subjects alike.

Battling Poor Retention 

Once recruited, each patient is a valuable contributor to the success of a trial and the treatment it is studying, making retention a high priority. Although the logistics related to rare disease trials are often much more complex, the overall drop-out rate is lower due to the increased value of participation for these patients. Attrition rates for rare disease trials sit at 14% compared to 21% for studies related to common disorders. However, the cost of losing just one patient in a rare disease trial far exceeds the average cost of losing a participant in a traditional clinical study.  

The cost of engaging and supporting participants in rare-disease trials is high, and potential trial populations are small, making each participant essential to a study’s success. Losing a single patient during a rare disease trial also creates delays and forfeits crucial data. As a result, investing in services that can increase retention rates while reducing the burden on clinical site staff is a proactive choice for mitigating dropouts.

Investing in Patient Concierge Services

Study sponsors and CROs should consider offering comprehensive patient support services from a designated patient concierge company. Much like a hotel concierge, a patient concierge manages all logistics related to study participation. These services include itinerary planning and ticketing, reimbursement facilitation, visa and passport assistance, and more.

Patient support encompasses a variety of approaches. In certain instances, this assistance means having a designated individual to address any inquiries or uncertainties a participant might encounter regarding trial logistics and design. According to a Clincierge Voice of the Patient survey, an overwhelming 95% of patients emphasized the importance of having a singular point of contact to aid them throughout the clinical trial process. Ideally, a patient concierge is situated within the patient’s country of residence, fluent in their language, and readily available to provide support during travel to site visits and throughout the entirety of the study. This individual establishes a personal rapport with the patient, offering an understanding of the nuances of their experiences and the region where their trial occurs.

Investing resources in patient support programs benefits trial sponsors in several ways, including:

  • Improving recruitment, retention, and diversity efforts by reducing the emotional, financial, and logistical barriers hindering patients’ willingness to participate and remain in a trial.
  • Ushering life-enhancing and lifesaving therapies to market faster, as making day-to-day aspects of the trial easier for participants results in fewer delays.
  • Collecting better data, as an improved patient experience resulting from individual support reduces stress on the patients while allowing site and medical staff to focus on the study itself.

Bottom Line 

Rare disease treatment development is a complex and challenging process, marked by the tireless efforts of researchers, clinicians, and patients alike. Rare Disease Day serves as a poignant reminder of the importance of raising awareness and advocating for improved access to medical care for those affected by these conditions.

Clinical research stands as a beacon of hope, driving forward our understanding of rare diseases and paving the way for innovative treatments. By investing in initiatives such as patient concierge services, study sponsors, and CROs can accelerate the development of lifesaving therapies while ensuring each patient’s voice in the rare disease community is heard and supported.

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Scott Gray

Scott Gray is the former co-founder and CEO of Clincierge, a provider of patient support services for clinical trials. Since 2015, Clincierge patient coordinators have managed logistics and reimbursements in more than 300 clinical trials worldwide. For more information, visit