As every biopharma company knows, rare disease trials may be among the most difficult projects to plan and deliver. The patient populations are small and scattered and some may be located in pockets in remote areas or regions where clinical research is not traditionally conducted and others are only identified after sophisticated molecular testing. Additionally, some rare conditions have a limited number of experts, often little to no peer reviewed research and a virtual absence of key opinion leaders to access for guidance and advice. This all creates a trial environment that is fraught with uncertainty and a risk of failure to meet objectives.

We need to think about things in a different way and we need to be creative in the ways we approach these perceived difficulties. As we reflect on Rare Disease Day this week, it is time to start thinking differently about how we do rare disease research.

Rare disease research needs forward-thinking project teams who recognize the inherent challenges these projects face—and are willing look for unorthodox ways to overcome them. Fortunately, the biopharma industry, patient advocacy groups and regulators are working collaboratively to make rare disease research opportunities more abundant for patients and their families and more attractive for biopharmaceutical companies. For patients suffering from a rare disease, development cannot come soon enough. In some cases teams are drawing on best practices from within the healthcare delivery system itself in others they are drawing lessons from outside industries to find better, faster and economical ways to meet the needs of patients.

Thinking differently for rare disease research
Harnessing the internet is a powerful tool at the center of good strategy from trial concept to recruitment, namely, social listening. The best way to approach a clinical trial is to first understand who the thought leaders are, where patients go for information, and what their key concerns are about treatment and trial participation. All of this information can directly inform trial protocol development and efforts to recruit patients. Social listening addresses all of these issues, enabling researchers to gather valuable data in a matter of days.

Social listening involves running an algorithm or online query to scan the internet for discussions, research, key opinion leaders and advocacy efforts related to the disease. The results are then compiled into a report that outlines where discussions are taking place, where patients are finding advice and treatment information, and what are the ‘patient important outcomes’ that will determine whether or not a patient will participate in a trial. This information allows investigators to tweak their trial design, find advocates to collaborate with, and target their efforts to be most accessible to patients.

Making things as convenient and complication free as possible is key. Incorporating patient concierge services as part of the clinical trial planning process should certainly be considered. One of the biggest challenges in rare disease research is finding the patients and making sure they have the opportunity to participate thus transportation to the trial sites can be a barrier.

Even if there are numerous possible participants, they are often scattered all over the world. If sponsors can’t track them down and offer a trial site that they can get to, they face a high risk of trial failure due to insufficient patient accrual. Many sponsors attack this challenge by opening dozens of sites around the world, each of which may serve one or two patients, if any at all. In some cases this is an incredibly expensive and inefficient approach and we need to carefully consider changing this embedded tactic.

Instead of opening sites near the patients where the potential for recruitment is low and expertise with clinical trials may be as well, they are bringing the patients to the trial. Once sponsors identify a patient who meets the inclusion criteria for the trial they provide door-to-door services, transporting that patient, and their family if appropriate, directly to one of a few trial sites set up via partnerships with highly respected research facilities adept at rare disease care. This shift dramatically reduces infrastructure and costs, while aligning the trial with a renowned institution where leading physicians are already treating patients with a variety of rare diseases. Inherent with this approach is smart trial design including patient-driven input allowing for remote visits on a more frequent basis eliminating the need for excessive travel.

It is a surprisingly cost efficient approach that could be a game changer for rare disease trials. Not only does it eliminate the geographical barriers to this research, it ensures trial sites are led by physicians who understand both the disease and the trial process, and are eager to participate in research.

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Cynthia Jackson
Pediatric Center of Excellence

Cynthia Jackson, D.O., is vice president and head of the Pediatric Center of Excellence. In that role, she leads strategy and consulting around all aspects of pediatric clinical development. She also serves as a consulting assistant professor in the Division of Pediatric Infectious Diseases at Duke University.