Data, Digital Tech and the People Behind the Numbers: Insights from Companies Forum
At CamRARE, we believe that real progress in rare diseases happens when we break down silos and build bridges. That’s the purpose of Companies Forum – a trusted space where leaders connect to challenge assumptions, share insights, and co-create bold solutions.
In December, CamRARE hosted a Companies Forum meeting on the Cambridge Biomedical Campus, to explore a question that is rapidly reshaping rare disease medicine: how can patient data and digital technology unlock better evidence, fairer access to treatment, and a more empathetic experience for families?
A hot topic as the MHRA recently published a position paper (November 2025) setting out a more flexible, data-driven approach to regulation.
As CamRARE’s Managing Director Jo Balfour reflected in her opening remarks, we are now at a point in time where “data could, in theory, be collected all day, every day, all year round” and the pace of change and potential flexibility in regulatory the approach is quite exciting.
But this meeting was clear: The challenge is not primarily technical. It is human. The central questions for the day were simple but profound:
- What kinds of data and digital technologies are being used?
- How are they being used?
- And crucially, what is the experience for the person or family contributing that data?
If it doesn’t work for the people it’s designed for, they’re not going to engage and if we are going to ask patients for data, “do it once and do it well.”
From Metrics to Meaning
That principle came vividly to life in a powerful presentation from Josie Godfrey, Strategic Director of Duchenne UK’s Project HERCULES.
Josie described the reality of traditional clinical trials: long-distance travel every few weeks, time away from home, school and work, layered on top of the daily demands of a progressive condition. Anything that reduces this burden, she said, while better reflecting real life, “has got to be good.”
She challenged the adequacy of standard outcome measures, particularly the six-minute walk test. “Every time I saw it, my heart would sink,” she said. A number on a page tells families very little. What matters is whether a child can walk into a classroom, visit a grandparent, or go to the shop.
In those with Duchenne, Josie highlighted a critical transition stage that is often invisible in the literature: the point at which a child can no longer weight-bear. “The key thing is not that you stop walking,” she explained. “It’s that you stop weight bearing.” That shift has a much more profound impact on independence, care needs and costs, than becoming a wheelchair user, yet it is rarely captured.
Digital approaches offer the possibility of seeing what traditional measures miss: subtle changes in posture, movement and compensation; the things people can still do, not only the things they can no longer do. They can reflect the reality of life, rather than an abstract score from a clinical environment.
But Josie also shared a hard lesson. Early pilot work that required parents to use smartphone video to capture movement over time allowed for documenting subtle changes, however the emotional impact of being faced with such a visual comparison was too painful for families to see, and the study was halted.
Even the most well-intentioned digital innovation can cause harm. Parents and patients are often asked to “go to a very dark place” to generate evidence. Technology must reduce burden, not add to it.
Digital measures can enable smaller, faster, more inclusive trials, Josie concluded – but only if they are designed to protect the wellbeing of the families participating.
When Families Become Innovators
That human drive to “do something” was embodied in the story of James Oakley of Keep Me Breathing.
James’ son has a condition that causes him to stop breathing, requiring constant vigilance. Faced with this reality, James decided to create a solution.
Working with innovative product designer, Duncan from 7TH Design, they developed a device to monitor his son’s breathing.
What began as a response to one family’s need now has applications far beyond that single condition, including respiratory care and even sports performance. It is a powerful reminder that some of the most transformative ideas in healthcare begin not in laboratories, but in family homes in the middle of the night.
Watch James and Duncan’s video below:
Can Wearables Change the System?
Ashley Enstone and Alisa Chowdhary from Adelphi Values PROVE explored what it will take for digital and wearable technologies to be accepted, not only in trials, but by health technology assessment (HTA) bodies such as NICE.
Wearables are already part of daily life. In healthcare, continuous glucose monitoring has transformed diabetes care, reducing mental burden for both patients and carers. In Duchenne Muscular Dystrophy, Stride Velocity, a wearable capturing how people move in real life rather than in a clinic corridor, has progressed from regulatory qualification to primary endpoint status in just a few years.
Yet wider adoption remains slow. Building confidence in new tech takes time, evidence and education.
Some examples of challenges that were identified in their study included: the variation in tech literacy (owning a device does not mean being able to use it confidently); many commercial devices are less accurate for people of colour and those with higher body mass, risking bias and mistrust; and cost remains a major obstacle. Those who could benefit most often have the least ability to pay.
A group member described the reality of continuous glucose monitoring: £50 every two weeks, device failures, and the emotional blow of reverting to finger-prick testing. Even “well-established wearables… are not foolproof.”
This creates a paradox. To secure funding and reimbursement, data is needed across all populations. But to collect that data, funding is required.
In rare disease especially, the group agreed that imperfect data is often better than no data at all, as long as the limitations are transparent.
Above all, patients need confidence that their effort will matter. If data “isn’t going to get traction with regulators,” families are “wasting very valuable energy.”
Behaviour as a New Vital Sign
Professor Richard Festenstein of Imperial College London offered a glimpse of what the future could look like.
Through his work on Friedreich’s Ataxia, Richard’s team developed compounds that reverse ‘epigenetic silencing’ – a symptom of this condition, where genes are too tightly packed to be accessible, so are essentially ‘switched off’, and in the case of Friedreich’s Ataxia, it means the body cannot make enough frataxin, a protein essential for nerve and muscle function. After treatment, patients reported changes that transformed daily life:
“I can talk on the phone.”
“I can sit up unaided.”
“I can grab a cup of water.”
However traditional clinical scales failed to capture these effects. “What we do at the moment is very crude,” Richard said.
So, working with Professor Aldo Faisal, Richard has been trialing a more precise, nuanced way to capture real-world patient experiences through repurposing motion-capture technology used in the movies (BBC article). Patients wear sensor suits in simulated domestic environments, and simpler devices at home, to 3-D record every day activities in a more relaxed environment. Machine learning analyses thousands of features of the movements captured.
The results are striking.
- Movement data predicts clinical scales better than the scales predict themselves.
- Trials can be smaller and faster.
- Disease progression can be detected earlier.
- Non-ambulatory patients – often excluded from traditional studies – can be included.
In one example, frataxin levels in blood could be predicted from how a person with Friedreich’s Ataxia moves, where clinical scales showed no relationship. The study shows the potential for each patient to be mapped within a multidimensional “disease space,” with an “individualised fingerprint.”
Richard’s company, Ethomix, aims to integrate behavioural data with genomics, imaging and electronic health records. Behaviour, he suggested, is a “missing vital sign.”
A Shared Responsibility
Across the day, one message rang clear: no single stakeholder “owns” this space. Progress depends on partnership between patients, families, researchers, regulators, technology companies and industry. The challenge is not the absence of data, but its fragmentation. As one participant observed, “There is data – it’s just not in the same place.”
This is not simply a data revolution. It is an opportunity to build a system that sees people, not just numbers – and to ensure that technology serves the lives it seeks to measure.
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