Leveraging Next-Gen Tools in Rare Disease Research
The capture of high-quality, accurate and complete datasets in a clinical trial is always of utmost importance. But the stakes could not be higher when it comes to rare disease. It is estimated that there are over 6,000 rare diseases globally. Of that, roughly 300 million people are currently affected with a rare disease today. Further, 70% of rare diseases start in childhood with significant effects on mortality. Unfortunately, treatments are available for only around 5% of those patients.
Emerging Methodologies in Patient-Reporting Enable Quality, Real-Time Measurements
Many times, efficacy and safety outcomes of clinical trials are dependent on caregiver reported outcomes, which can be challenging to collect reliably. For example, how reasonable is it to expect a caregiver to accurately report on the duration of their child’s cry or the consistency of a stool in a diaper, when their primary responsibility is to tend to the child in the care? How much attention can they gave to evaluate a rash, coughing or other important symptoms when reporting outcomes? How significantly are caregiver ratings impacted by stress, anxiety and the fact that one patient may have multiple caregivers?
One solution that we have found to be effective is to reduce the burden of providing subjective ratings from the caregiver by enabling them with technology. Next-generation clinical trial tools enable caregivers to provide an image, audio or video record of the events with the click of a button. In some cases continuous monitoring via connected devices can offer a solution that not only unburdens the caregiver, but also enables us to bring accurate, real-time, high quality measurements into the database. From there, the data can be processed and rated by trained and qualified central clinical experts. We increasingly find that signal quality is enhanced several-fold when comparing traditional reporting to our new methodologies.
Removing Barriers to Accessibility in Rare Disease Research
Recruiting patients for rare disease trials is challenging. Rarity often implies the need to widen the net to broader geographies in order to fill cohort samples. This can exacerbate issues of heterogeneity into the sample collection signal if patients and caregivers are going to various sites who have different procedures and understanding of how to conduct the clinical trial. As patients typically live more than two hours from a clinical site, remote data collection directly from patients in their homes in real time or near time is a tremendous boon to data accuracy. However, these novel methods make it imperative to adequately train patients and caregivers on their roles and responsibilities in a clinical trial, understand the role of placebo in the study and the importance of accurately and consistently reporting data in order to obtain reliable efficacy and safety signals to assess drug viability.
The world of clinical trials is shifting rapidly. Technological advancements have tremendous upsides in terms of trial safety, efficiency and accuracy. We are committed to leveraging the power of these new tools and methods to facilitate the next generation of research to catalyze the development and approval of novel interventions for those suffering from rare diseases. We will leverage the science of pragmatic health innovation.