Making a Mark on Rare Diseases
Technological advances are opening up new drug development opportunities for rare diseases.
| Opinion
What we asked: “Looking ahead to the next 5–10 years, what will be the key disruptors and/or what can be improved upon in the pharma industry?”
Response from: Sandra Nestler-Parr, VP, Value & Access, BioCryst
Over the past decade, there have been significant advancements within our industry, many positively impacting rare disease communities. The significant increase in rare disease treatment approvals is testament to this positive development; in 2022, more than half of FDA new drugs approvals and over one third of EMA approvals were therapies for rare diseases.
Increasing focus on patient-centric drug development has been a key shift in recent years. Spearheaded by the FDA’s Patient-Focused Drug Development Guidance and the EMA’s Regulatory Science Strategy to 2025, mandatory integration of relevant patient and caregiver input into medical product development and regulatory decision-making aims to more effectively address the unmet needs that matter most to patients, whilst minimizing the burden on patients during drug development.
Significant technological advancements have also opened new avenues in drug discovery, development, and delivery. Scientific breakthroughs have unlocked novel treatment modalities, allowing for precision targeting and development of first-in-class therapies for previously untreatable diseases. For the first time, innovative therapies may hold the promise of curing disease.
The digital revolution has transformed data generation, analysis and application. ‘Big data’ and the widespread uptake of wearable technology and telehealth allows for convenient remote monitoring, large-scale and efficient data collection, and targeted delivery of personalized health solutions.
With the increasing focus of payers on value-based assessments, expanding beyond traditional efficacy, safety, and cost-effectiveness metrics has become an important prerequisite to optimal patient access to new health technologies. The requirement to demonstrate the wider impact on quality of life, healthcare systems, and the larger socioeconomic landscape has promoted the relevance of real-world evidence in the evaluation of benefit and added value of health technologies in routine clinical practice. A holistic approach to value assessment is particularly pertinent in rare disease therapies, as small, often heterogeneous, patient populations present numerous challenges for evidence generation in traditional clinical trial settings.
Looking to the future, all eyes turn to the comprehensive integration of AI into the pharmaceutical value chain, promising more efficient drug development, manufacturing and delivery, and more affordable health technologies.
Regardless of whether we are looking at the past decade or the next, it is the ‘perfect storm’ of all interrelated factors that will optimize the potential of individual disruptors, advance the industry, and maximize the benefit to patients. As currently only 6 percent of an estimated 8,000 rare diseases have approved treatments, there is still much work to be done.
