The rare disease pharmaceutical landscape is poised for a digital revolution that could transform both drug development and patient care. With an estimated 6,000-8,000 rare diseases affecting up to 60 million people across Europe and the US, the need for innovative approaches has never been more urgent.
The Costly Challenge of Rare Disease Drug Development
The orphan drug sector is experiencing robust growth, with EvaluatePharma estimating total orphan drug sales will reach $176 billion by 2020. However, the development pathway faces significant obstacles. The average Phase 3 clinical trial for an orphan drug costs approximately $103 million, with pharmaceutical companies projected to spend a total of $6.9 billion on Phase 3 trials alone.
Despite this massive investment, success rates remain concerning. Research indicates that 42% of recently completed pediatric trials failed to establish safety and efficacy, while 37% of EU-approved orphan drugs were rejected at the Health Technology Assessment stage due to insufficient effectiveness data.
"In rare disease, where patient numbers are low, and both disease presentation and rate of progression are heterogeneous, relying on data from sterile snapshot assessments during clinic visits alone leads to inconclusive trial results, which is both unethical and uneconomical," explains Elin Haf Davies, PhD, who began her clinical career at Great Ormond Street Hospital in London.
The Data Gap in Current Clinical Trials
A fundamental problem in rare disease research is the disconnect between what clinicians observe during infrequent visits and what patients actually experience daily. Current clinical trials typically collect data only when patients visit research sites at fixed intervals, missing critical information about disease progression and treatment effects between appointments.
This approach creates a simplified and potentially biased representation of patient outcomes. As Davies notes, "Is 12-18 minutes'-worth of data from a two-year study, generated during stressful and sterile hospital visits, really considered superior to continuous data captured in real time throughout the patient's trial experience using a consumer-grade wearable?"
Digital Solutions: Bridging the Gap
The global availability of smartphones and improvements in wearable technology offer a promising solution. Digital health innovations can provide:
- Continuous, real-time data collection
- Fewer required hospital visits
- Less reliance on patient memory recall
- Greater depth of individual patient data
- Real-time access to information for faster decision-making
While consumer-grade trackers like Fitbit aren't classified as medical devices, they're increasingly being incorporated into clinical research. As of June 2016, there were 104 completed, current, or pending Fitbit studies listed on ClinicalTrials.gov, including research in obesity, diabetes, and cancer.
The Patient Experience and Digital Adoption
People living with rare diseases face unique challenges that make them particularly receptive to digital solutions. Thomas Michalak, Creative Director at Graphite Digital, notes that rare disease patients often experience "an overwhelming diagnosis experience that has left them feeling misunderstood, isolated, and desperate for someone to help them connect symptoms and make sense of the sheer volume of information."
These communities tend to be proactive and passionate about advocacy. In the US, 88% of people with rare diseases would consider investigational treatments, compared to only 62% thirty years ago, indicating high potential for early adoption of digital innovations.
Creating Human-Centered Care Through Technology
Digital products for rare diseases must be user-centered to effectively connect medical and emotional circumstances. By mapping patient journeys, developers can create more relevant solutions that positively impact well-being and potentially increase treatment adherence.
Online consultations can increase access to specialists, while patient databases can help healthcare providers make more accurate diagnoses. Social media-style platforms specifically for rare disease communities can address isolation by connecting patients globally.
"Social media-style sites for rare diseases can connect patient communities globally. Initiatives like Share4Rare are already supporting patients and carers by allowing them to be heard and emphasized," Michalak explains.
Regulatory Considerations and Future Directions
The regulatory and reimbursement pathways for mHealth and wearables remain unclear. Throughout Europe, standalone software and apps meeting the definition of a medical device must be CE marked to ensure safety and performance.
Initiatives like ADAPT SMART are working to accelerate the development of appropriate patient therapies in a sustainable way. By coordinating Medicines Adaptive Pathways to Patients (MAPPs), they aim to foster access to beneficial treatments at the earliest appropriate time in a product's lifecycle.
Strategic Implications for Pharmaceutical Companies
For pharmaceutical companies specializing in rare diseases, investing in digital solutions offers several strategic advantages:
Timing Is Critical
Digital solutions must be introduced at appropriate moments in the patient journey. Working closely with healthcare providers can help companies understand when patients are most receptive to new technologies.
First-Mover Advantage
With initiatives like DiGa in Germany and Norddec in Scandinavia demonstrating growing acceptance of digital health solutions, companies that establish themselves early in the rare disease digital space may secure favorable positions with healthcare providers and patients.
Authentic Patient-Centered Approach
Success in rare disease digital innovation requires genuine commitment to patient needs. As Michalak notes, "Working in the area of rare diseases, you are undeniably passionate, emotionally engaged and dedicated to helping patients. This passion means you will carry your digital product through storms and fight for its success."
The Path Forward
The current drug development pathway for rare diseases is unsustainable, both in addressing unmet therapeutic needs and providing affordable treatments. Digital innovation offers a promising alternative that could transform the landscape by providing deeper insights into patient experiences while making clinical trials more efficient and effective.
For the 60 million people living with rare diseases across Europe and the US, these digital advances represent not just improved data collection, but potentially life-changing improvements in diagnosis, treatment, and quality of life.
