Digital biomarkers have the potential to change the research and development (R&D) landscape by offering a more complete picture into a person’s disease journey.
Harnessing digital biomarkers to advance rare disease R&D
From smartphones and wearables to implants and digestibles, digital devices are becoming an important aspect of the health and wellness landscape. These tools are commonly used to collect digital biomarkers that can tell us about a person’s health, including the frequency and severity of disease signs and symptoms and how they respond to treatment. Together, these quantifiable, physiological and behavioural characteristics have the potential for continuous monitoring and real-time assessments that can help us gain a fuller understanding of a person’s disease journey. For example, the ability to monitor and measure movement through smart watches could better contextualise changes in patients’ daily mobility, help identify trends in disease progression or assess patients’ response to therapy.
Digital biomarkers can be used to generate information where it is greatly needed – like for rare diseases – by enhancing our knowledge about rare conditions and improving our ability to develop meaningful therapies where there is great unmet need. There are more than 10,000 known rare diseases that affect more than 400 million people worldwide1 – that’s more than cancer and Alzheimer’s combined.2 However, each individual rare disease may affect as many as 1 in 2,000 people.3 With such small populations affected, information that is typically available for more common conditions often does not exist for rare diseases – including underlying disease biology, regulatory precedent and validated clinical endpoints or biomarkers that are needed to guide the development of effective therapies.
The potential of digital biomarkers in rare neurology
Alexion, our rare disease unit, supports the advancement of digital biomarkers to help better understand and address debilitating rare neurological conditions, such as neuromyelitis optica spectrum disorder (NMOSD) and generalised myasthenia gravis (gMG). People living with these rare autoimmune disorders experience fluctuations in neurological symptoms — like muscle weakness or changes in vision and mobility impairment, which can lead to recurring disability, and even contribute to premature death.
Symptoms can often go underreported in diseases like these where symptoms fluctuate. This can lead to a disconnect in defining what it means to “effectively manage” such conditions between patients and physicians. Through an external research collaboration with Ad Scientiam, a mobile health company specialising in developing digital biomarkers, we are exploring how these tools, based on patient-generated data, could help the scientific and medical community better understand the real-world impact of NMOSD, gMG and other rare diseases.
Research by Ad Scientiam, supported by Alexion, is advancing the development and clinical validation of potential new platform tools. The platforms, called NMOSDCoPilot and ME&MG, were designed based on interviews with experts and patients to assist with remote monitoring via a mobile app. For each platform, these conversations were used to identify clinically meaningful digital biomarkers intended to track symptoms among people living with NMOSD and gMG, respectively.
Completing a series of tasks in the respective app enables patients to self-assess their level of functional ability related to motor, cognitive, vision and dexterity. The tools will also include digital questionnaires to evaluate other disease-specific signs and symptoms, including pain, fatigue, mental health and quality of life.
In both the NMOSDCopilot and ME&MG application platforms, the digital measures can be accessed by clinicians virtually and will help further our understanding of these diseases. We hope to continue to collaborate with Ad Scientiam to support its efforts to clinically validate these innovative tools, by comparing the digital measures with clinical gold standards to confirm relevancy of the assessment data and its use in supporting effective treatment management.
At Ad Scientiam, we're dedicated to advancing digital biomarkers as we believe they hold immense potential in revolutionizing the way we understand and manage complex diseases. Our collaboration with Alexion is helping us develop and validate innovative tools, like NMOSDCoPilot and ME&MG, which empower patients to track their symptoms and provide clinicians with valuable insights. Together, we're working to bridge the gap between patients and physicians and improve the quality of life for those with rare diseases.
Exploring applications of digital biomarkers across clinical development
Digital biomarkers can generate a large pool of patient data with the potential to exponentially grow our knowledge of rare conditions – data that can be harnessed to identify underlying causes of disease symptoms and facilitate a patient-centric research approach including their experiences and daily needs. Any patterns that arise in these data can be applied to the earliest stages of drug discovery to design experiments that identify potential treatments with a higher chance of success in clinical trials. Digital biomarkers also show potential for use as validated endpoints, or defined clinical measures, to help demonstrate clinical benefit or efficacy of a therapy over time to regulators, such as a memory test that a patient can take on a smart phone app to show cognitive function.
Furthermore, people with rare diseases often face additional barriers to accessing clinical trial programmes, which are limited in number or may be far from a patient’s home. Allowing clinical investigators to monitor a patient’s health status remotely (through a smart device) can reduce the burden of regular in-person visits to a trial site. This may enable more patients to participate
As the field of digital biomarkers progresses, there’s an increasing desire to use these new technological tools across the rare disease R&D continuum. Digital biomarkers have the potential to enhance our clinical programmes, ultimately accelerating the development and delivery of potentially life-changing therapies to those in need. We aim to continue advancing digital biomarkers, to provide us with a deeper understanding of diseases that can help people — from their initial diagnosis to living their everyday lives with a rare disease.
