There are so many reasons to feel hopeful about the future of rare diseases. Since 1983 when the Orphan Drug Act was signed into law, the number of drugs approved for rare disease has risen dramatically. According to a report released by the Center for Drug Evaluation and Research (CDER) in early January of this year, 21 of 48 novel drug approvals (44%) in 2019 were for drugs that treat rare or orphan diseases that affect 200,000 or fewer Americans.
Much of the progress has been driven by activated patient communities, determined to accelerate treatment development and improve care. Not content to stand on the sidelines, the rare patient community has progressed from raising funds and serving on advisory boards to
- driving the research agenda
- forming clinical research networks
- organizing efforts to develop clinical guidelines
- launching patient registries
- collecting patient experience data
- weighing in on meaningful clinical endpoints
- testifying before regulatory agencies.
At the same time, technology is enlarging the sphere of what’s possible in rare disease research, thanks to increasingly sophisticated information technology and biotechnology, the movement of low-cost sequencing into clinical use, and innovative use of AI throughout the rare disease continuum
The convergence of activated patients and powerful technology makes this a time of great opportunity. But there are also challenges that must be faced.
- Researchers have been working in isolation due to institutional barriers to collaboration
- Rare disease natural histories and registries are siloed or missing
- Genomics and diseases work differently than our system design
- Rare therapies are expensive and costs are increasing
- Access to therapies is uneven, both in the US and globally
- Harmonization of data and regulatory policy are ongoing needs
What’s becoming clear is that we must face these challenges together. Sharing data, sharing benefits, sharing decision making, building trusted, respectful relationships and working to achieve common goals is the path most likely to succeed in the new world of rare disease.