Digital biomarkers may lead to more robust clinical trials for rare diseases
However, work is still needed to validate their use for rare diseases
Digital biomarkers are a feasible way to remotely monitor motor function in people with rare neurological diseases, but more work is needed to validate the approach, according to a recent review study.
Use of such outcome measures could help make it easier to conduct robust clinical trials for rare diseases, including Batten disease, ultimately facilitating the development of therapeutics.
“It is clear from the current state of the field that digital outcome measures have great potential to positively impact clinical trials and accelerate drug development processes,” researchers wrote, but they emphasized that these digital tools still require validation before they can be used in trials.
“Future research should focus on the systematic validation leading to the qualification of devices, variables, and algorithms to allow remote evaluation of diseases,” they noted.
The study, “The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review,” was published in the Orphanet Journal of Rare Diseases.
Objective, quantifiable measures lacking for many rare diseases
Developing therapeutics for rare neurological conditions such as Batten disease can be challenging.
That’s in large part due to the fact that clinical trials tend to be small, because so few eligible patients can be recruited, and may not include a placebo group for comparison.
Moreover, clinical outcome measures are often not clinically objective. Since validated measures are lacking for many rare diseases, researchers must instead rely on subjective, patient-reported outcomes.
Digital biomarkers could offer a way to help make clinical trials for rare diseases more robust. These markers are objective, quantifiable measures of physiology or behavior that reflect disease processes and could thus be used to monitor changes with treatment.
They also offer the advantage of being collected remotely, allowing more data to be gathered as a person goes about their daily activities.
For example, wearable sensors could remotely collect data related to a person’s movement throughout the day that clue researchers in to how a person’s mobility or balance changes with a certain intervention.
Artificial intelligence algorithms can help to distinguish normal or disease-associated movements and quantify when a meaningful change has happened.
“The use of digital outcome measures is expected to increase with the development of innovative technologies and artificial intelligence,” the researchers wrote.
Yet, most digital biomarker efforts have been focused on non-rare diseases, according to the scientists.
Digital outcome measures have great potential to positively impact clinical trials and accelerate drug development processes.
Scientists conduct systematic review of 139 studies, covering 27 diseases
In their study, the researchers conducted a systematic review to summarize progress in the field related to digital biomarkers of motor function in people with rare neurological diseases.
This is of relevance to Batten disease, a rare neurological condition where patients experience progressive muscle weakness and movement problems, among other neurological symptoms.
Ultimately, the review included 139 studies, covering 27 different conditions, including neuromuscular diseases, movement disorders, genetic ataxias, rheumatic diseases, and miscellaneous neurodevelopmental disorders.
Studies typically involved wearable sensors worn on various parts of the body.
Across the wide range of studies, it generally appeared that use of these measures for evaluating motor function outside of a clinical setting was feasible and could be applied to a broad range of diseases. The sensors were able to capture measures including activity levels, gait parameters (e.g. speed, rhythm), and balance.
While none of the studies directly evaluated digital biomarkers in Batten disease, similar approaches could eventually be developed for Batten clinical trials.
Digital biomarkers ‘not yet ready to be used unsupervised’
Most digital biomarkers are designed ultimately to be used remotely, but they were mostly used under clinical supervision in these early reports, according to the researchers.
“This indicates that many of these technologies are not yet ready to be used unsupervised,” the researchers wrote.
Although they show promise, most digital biomarkers need further development before they are validated well enough to be used in rare disease clinical trials, the researchers noted.
Indeed, very few of the biomarkers had yet been adopted as endpoints in a clinical trial.
Nevertheless, the researchers believe that as the field grows, there will be a role for digital biomarkers in rare disease clinical trials.
“The qualification of a first digital outcome could pave the way to development of digital outcome measures,” the researchers wrote.
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