Using data to accelerate rare disease drug development

Did you know that, according to recent studies, up to 52% of people with Huntington’s disease are also diagnosed with obsessive-compulsive disorder (OCD) or obsessive-compulsive behaviors? As of today, there are few established guidelines to address this comorbidity and little in the way of patient support.

In the rare disease space, an insight like this is incredibly valuable to pharmaceutical companies—offering opportunities to increase awareness of a specific rare disease, justify investment in new research and treatment development, and improve patient outcomes.

Unlike common conditions, rare diseases affect only a small portion of the population and, due to their rarity, traditional methods often face roadblocks. While this means the pool of patients, researchers, and specialized providers may be smaller, the role and impact of data is no less important. With the right healthcare intelligence, pharma companies can deepen their understanding of their patients, find experts and KOLs with more precision, improve strategic decision-making, and much more.

Interested? Let’s explore three ways you can use healthcare data to accelerate rare disease drug development.

Identifying your target disease state

If you’re a pharmaceutical company looking to enter the rare disease market, determining which condition to invest money, time, and people into should not be taken lightly.

After all, not all rare diseases are created equal. Some have existing treatment options, while others have a high burden of illness with very few or ineffective treatments. Analyzing healthcare data can help you identify the most promising rare diseases for drug development that align with your company’s resources and goals. Let’s break down a few different sources of healthcare data you should consider pulling from:

• Patient registries. Researchers can use these registries to collect real-world data like patient demographics, disease characteristics, and treatment history.
• Claims. Medical and prescription claims can reveal the prevalence of diagnosed cases and associated costs, helping your team assess the overall burden of the disease and potential market size for a new treatment.
• Clinical trials. While available clinical trial data may be scarce, those that are available can provide insights into current standards of care, patient outcomes, and active clinical development efforts.
• Electronic health records (EHRs). De-identified EHR data offers more insights into the rare disease’s pathology with info on patient medical histories, symptoms, diagnoses, and treatment responses. With this data, your drug development team can make more informed decisions about viable drug targets.

Overall, identifying your target disease state is about using healthcare data to make more strategic decisions. It goes beyond just choosing a rare disease; it's about picking the one where you can have the most impact, develop the most effective treatment, and ensure successful clinical trials.

Pinpointing the best rare disease experts

Scientific and clinical experts play a crucial role in the development process for any new intervention. But in rare disease, where the number of patients is limited, finding the right expert is essential.

Traditionally, this has been a time-consuming process relying on personal networks and academic publications. However, with the power of Monocl ExpertInsight, medical affairs teams can accurately identify the researchers, scientists, and healthcare providers worldwide focused on the condition you're targeting. Our Monocl platform gives you the tools and data visualization capabilities to thoroughly map the research landscape and analyze publications, grants, clinical trials, presentations, social media activity, and much more, making it a breeze to discover opportunities to engage in strategic collaborations.

So, what experts should you be looking for? The exact kind may vary depending on the specific rare disease you’re targeting, but a good place to start is to understand the composition of the care team that treats and manages patients with your condition.

Huntington’s disease, for example, is a complex neurological condition that requires a multi-disciplinary care team to manage the various symptoms patients may have. For this condition, care teams may be comprised of neurologists, psychiatrists, geneticists, therapists (physical and occupational), nurses, social workers, and other specialists.

Understanding these teams and the role each member holds can further clinical trial research opportunities, as well as identify much-needed support services and community resources.

These specialists also receive real-time patient feedback and develop an acute understanding of patient adherence, treatment responses, and unmet needs. Developing an effective engagement strategy allows you to leverage this real-world evidence to inform drug development processes, clinical trial execution, and disease support programming.

Improving patient outcomes

Developing a drug is just one step in the fight against rare diseases. You can use healthcare data to go further and improve patient outcomes in several ways, such as:

• Creating personalized treatment plans that allow for better symptom management and improved patient quality of life.
• Detecting any unforeseen side effects after a drug enters the market more quickly and taking the necessary actions to ensure patient safety.
• Designing educational materials to help experts, physicians, and patients better understand the disease and the patient journey.

Technology like artificial intelligence (AI) and machine learning (ML) can also help improve patient outcomes. In fact, according to a survey of biopharma companies we conducted in 2023, 42% of participants shared that they believe drug development and discovery would benefit the most from AI and lead to better patient outcomes than other emerging use cases for the technology.

AI can assist in identifying molecular targets and compounds that have the most desirable properties to treat a given disease. Finding the right molecular target and compound is often a slow and labor-intensive process that involves the manual curation of large amounts of biological and chemical data. AI and ML accelerate this process by automating and streamlining the analysis of large datasets, leading to the discovery of potential targets based on their biological relevance to the pathophysiology of the disease, potential efficacy, and interaction with other molecules. This can save the research team weeks or months and allow them to focus on molecules that are more likely to be effective and safe.

There are many other ways AI is helping biopharma companies improve patient outcomes, including supporting earlier disease diagnosis, improving clinical trial success, and enhancing marketing and sales activities. You can learn more in our intelligence report “All in: Why life sciences companies must embrace AI.”

What are the challenges in rare disease drug development?

Some of the major challenges biopharma companies operating in the rare disease sector run into include:

• A lack of awareness and educational materials for many rare diseases
• A shortage of rare disease specialists to collaborate with and treat patients
• Limited funding and investment, owing to the inherent risks involved with rare disease drug development

Fortunately, advancements and breakthroughs in rare disease research are happening every day, making the challenges and roadblocks easier to overcome (if not eliminating them completely). You can read our blog to learn more about what providers are doing to help tackle rare diseases’ biggest challenges.

Learn more

With the right healthcare data at your fingertips, you can accelerate drug development and better position your pharma company for success. The rare disease market may be smaller (compared to other conditions), but it is still a competitive and challenging environment.

We can help you access the data you need to identify new opportunities in the market, find the right experts, and build better go-to-market strategies. Start a free trial with Definitive Healthcare to see how we can help you grow your business faster, and to stay up to date on the latest trends and developments in rare disease research.