Using Data to Accelerate Rare Disease Drug Development

Share this post

Did you know that up to 52 percent of people with Huntington’s disease are also diagnosed with obsessive-compulsive disorder (OCD) or obsessive-compulsive behaviors? As of today, there are no established guidelines to address this comorbidity and very little in the way of patient support. In the rare disease space, unlocking insights like this can help pharmaceutical companies identify opportunities to increase awareness and perhaps improve patient outcomes.

Gaining relevant rare disease insights isn’t about accessing more data—it’s about using your data more effectively. Here are some of the best ways to leverage your data solution to achieve three important goals: 

  1.  Identify your target disease state
  2. Pinpoint relevant rare disease experts, and
  3. Improve the patient experience

1. Identifying your target disease state

You already know that when choosing your target disease state, you need to understand what the competitive therapies are and how your drug could impact the rare disease causes or symptoms.

Morquio Syndrome, or MPS IV, is a lysosomal storage condition that affects a child’s bones, spine, organs and physical abilities. This rare genetic disorder occurs in 1 out of every 200,000 births in the United States and has only one approved treatment—with a very limited number of companies actively investigating additional interventions. To enhance efforts, teams driving clinical activity and awareness must strive to understand, “what’s happening across the scientific landscape?”

Patients with a severe form of Morquio Syndrome are often diagnosed in early childhood, and may exhibit symptoms such as:

  • Growth delays
  • Shortened stature
  • Abnormal bone and spine development
  • Genu valgum (knock knees)
  • Macrocephaly

Clinical trial research, physician analytics, and medical claims data can provide insights about current standards of care, patient outcomes, and active clinical development efforts. With these insights, development teams can gain a baseline understanding of the landscape that should drive future decision making. 

2. Pinpointing relevant 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. Leveraging the power of Monocl Professional, medical affairs teams can accurately identify the 1,200 researchers, scientists, and healthcare providers worldwide focused on Morquio Syndrome. To effectively understand the complexity and challenges of any rare disease, the composition of the care team can further inform the development process.

Patients with rare diseases may be seeing their care teams with a higher frequency than other patients do. For patients with Morquio Syndrome, that care team could include geneticists, pediatric orthopedic surgeons, occupational therapists, and other specialists. Since skeletal dysplasia can evolve and change over time, patients require pediatric imaging to track and measure changes relative to growth, leverage different specialists, and procedures. 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 receive real-time patient feedback and develop an acute understanding of patient adherence, treatment responses, as well as unmet needs. Developing an effective engagement strategy allows organizations to leverage this real-world evidence to inform drug development protocols, clinical trial execution, as well as disease support programming.

By accessing integrated patient and provider data, medical affairs teams can identify the centers of excellence that attract patients seeking treatment and the care teams that are treating them.

3. Improving the patient experience

Being a pediatric disorder, the vast majority of patients with Morquio Syndrome are effectively diagnosed between the ages of one and three. However, the average rare disease patient endures care for more than 4.8 years before receiving an accurate diagnosis. Organizations that have made an investment in a particular rare disease must strive to understand the patient journey to improve the speed and accuracy of diagnosis. For those suffering from signs and symptoms indicative of Morquio Syndrome, existing patient journey data may improve future detection and care decisions.

Using artificial intelligence (AI), development teams can identify accurate patterns and signals along the diagnostic pathway. In the case of Morquio Syndrome, clinical and laboratory information such as uGAG analysis, phenotype, disease progression, complications, and disease burden could be included for analysis. Tools like PatientFinder can also help identify patients who have also been diagnosed with common symptoms like growth delays or skeletal disorders.

Applying a data-driven approach to accurately understand the patient journey creates a pathway to improve disease awareness and apply evolving care approaches.

Learn more

To learn more about the rare disease sector, consider watching an on-demand replay of our webinar, Exploring Rare Disease Through a Data-Driven Lens. In the webinar, we focus on common challenges that drug developers face when identifying rare disease experts and recruiting clinical trial participants. We also highlight the strategies they use to overcome those challenges.

  • Blog