Designing and conducting clinical trials comes with many inherent challenges and these are amplified when it comes to rare disease studies. Patients are scarce, geographically dispersed and standards of care vary significantly across the geography. Globally, 350 million individuals suffer from a rare disease and fewer than 5% of rare diseases have treatment options. Rare diseases impact more people than cancer and HIV, combined and on average, it takes 8 years for a rare disease patient to receive an accurate diagnosis. Further, 95% of rare diseases do not have even one, single FDA approved drug (source:

“Eighty percent of rare diseases are genetic in origin and they’re responsible for 35% of deaths in the first year of life,” explained Joan Chambers, Vice President of Marketing and Strategy, ClinX.  “In the face of these challenges, the strategic deployment of technology is driving rare disease research.”

“The strategic design of clinical studies that includes the use of technology to reduce the burden of clinical trial participation for patients becomes especially critical in the rare disease space,” explained Scott Schleibner, Senior Vice President for Rare Diseases, PRA Health Sciences. Some of the complex challenges of research in rare disease include issues with:

  • Families: often, an entire family enrolls and they must coordinate time off from work and/or school, childcare and remote education
  • Patients: individuals are located around the world and many have to travel far distances and may even cross international borders to participate
  • Medical professionals: Physicians may have treated rare patients regularly but when recruited as Principal Investigators, they are research naïve; nurses may have to travel at length to see patients and access to medical records can be limited if the patient is from a remote location
  • Endpoints: are often still exploratory and it may not be clear if these endpoints necessarily reflect what regulators, drug developers and patients all want.

There’s no boiler-plate, one-size-fits-all approach to apply so it is vital to understand the nuances of the disease area. 

The collection of RWE (real world evidence) is important when designing a clinical trial because it ensures having good benchmarks and verifiable data to guide what researchers are doing. The evolution of the type of data being collected provides deeper insights into patients and what they experience when participating in a clinical trial. By looking at diagnostic claims data and ICD10 codes, researchers can obtain information that provides further context such as:

  • Number of patients in a particular country
  • The number of hospital visits per patient, per year
  • Demographic data
  • Which doctors are seeing patients and physician specialties
  • Payer insurance
  • Age distribution

The number of hospital visits is of importance as it reveals how often a patient is traveling to a location to be seen. Clinical trials must be designed without an overly aggressive appointment schedule, whenever possible, to reduce patient burden and preserve retention rates. A large number of required study visits may be off-putting to patients who are used to many less appointments for addressing chronic conditions. Data collected and analyzed can provide context and validate what Sponsors and CROs are hearing from sites.

Qualitative data reveals important details about rare disease patient participation as well as what individuals are experiencing personally. These patient insights can assist in planning the clinical trial design. Social listening reveals the ‘patient voice’, detailing clinical trial participants’ perspectives on their illness, the conduct of the study and even their opinions about Sponsors. By monitoring social media channels, social listening can provide data to help with the use, design and implementation of technology for patients as well as overcoming barriers. In an ideal situation, clinical trials should fit seamlessly into a patient’s life. And while this is a bold statement, data informs design. 

“The clinical research paradigm, in some respects, is somewhat archaic and fairly inefficient. But we have readily accessible technology through smart phones that are powerful and allow us to capture data, have video consults, use telemedicine and e-consent,” said Scott.

Using this type of technology is making the conduct of clinical trials easier; it’s not just using technology for technology’s sake.

“We need to make clinical trials less burdensome because patients have choices and they are informed,” Scott advised.

There are generational differences to consider in the implementation of technology. The use of mobile devices for telemedicine is more prevalent with Millennials who are digital natives. Their use of technology is central to how they approach the world. “We have to meet people where they are,” said Scott. This is not to say, however, that individuals in older demographics do not use digital devices. Many assessments can be made remotely and include:

  • Blood pressure readings
  • Glucometer readings
  • Heart rate monitoring
  • Sleep activity

Leveraging Bluetooth enabled devices that link to mobile phones furnishes consistent, reliable data points in the billions that drive tailored care for patients while reducing their burden of participation. The level of convenience that technology provides increases retention rates and correspondingly decreases costs for Sponsors/CROs. The collection of continuous data points, as opposed to discreet ones, makes trials enroll more quickly, makes it easier for study participants and advances therapies to patients more rapidly.

Part 2 in this 2-part series addresses other challenges and solutions in rare disease research.

When you need direct access to physicians and their known patients or research practice management solutions to accelerate your clinical trials, there’s Only Elligo.

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