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Bridging the rare disease treatment gap: Rethinking patients in clinical trials

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Shauna Aherne, president of Med Evoke, shares her insights on the challenges that remain in rare disease clinical development, and what changes need to incur in clinical trials to bridge the rare disease treatment gap.

Key insights:

Even with the heightened interest in rare disease treatments, companies and researchers still find themselves searching for enough patient data. Interconnectivity/social media and greater technology have not lessened the challenges with bringing a drug to reality in disease that afflicts less than 10,000 people in the European Union and 200,000 in the United States.

Bringing rare disease treatments to patients takes persistence. Patients’ cognitive and physical disabilities can limit trial participation as can travel distance from trial sites, and trial recruitment can be hampered by small patient numbers. Still, three hindrances in rare disease clinical development remain the most crucial to figure out:

Companies can institute efficiency measures such as scenario planning to help mould clinical protocols in order to meet trial outcomes and reach study completion, but struggles around inclusion/exclusion criteria and trial awareness can hamstring programs from the start; and these initial efforts can have implications for years.

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When it comes to trial design, researchers must step outside the norm to create effectiveness in rare disease studies. This means looking at nontraditional trial models that include basket and umbrella trials. While traditional trial models can create barren population targets, basket trials and umbrella trials multiply target populations by opening up the disease subtypes to be studied. Even with these models that enlarge trial targets, most companies ignore such options. In 2021, fewer than 50 such trials were started out of 5,000 rare disease trials that commenced, based on a Clinical Trials Arena analysis.

Another stressor for companies occurs with ill-defined exclusion/inclusion criteria. With limited trial populations, one or two patients can make all the difference in whether an endpoint is met or not. Companies that create tight exclusion/inclusion endpoint standards can positively adjust targeting for rare disease trials. Cogent, defined endpoints allow for better focus to gain patients that meet trial standards without muddying the data that can negatively impact the outcomes being researched. Trial designers must review inclusion/exclusion criteria early on to set the appropriate participation standards.

Too often, companies put all their focus on the research arm of the trial work, forgetting that medical affairs provide valuable support. When companies bring medical affairs into the rotation too late, it restricts disease education that could be leveraged for trial awareness and patient recruitment. When given time to develop relationships, medical affairs can improve trial participation by working with patient advocacy groups that already have access to rare disease patients. The pharma-advocacy group ecosystem can mutually benefit both parties who want to serve patients’ best interests.

Starting disease and trial awareness early also can benefit healthcare provides, who may be unaware of patient opportunities as well. Continued recruitment improvements and medical education efficiencies will allow for greater targeting for diseases with much smaller patient populations than those traditionally explored within rare diseases.

Early disease education, along with evolving diagnostic tools, provides additional measures to improve learnings to general practitioners and lessen geographic hindrances related to trial recruitment and overall treatment. Telemedicine, expanded trial sites and multi-disciplinary networks that support and inform patients of trial opportunities can yield great benefits to companies when implemented.

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