When most people hear “rare disease,” they imagine something extremely uncommon, perhaps affecting only a handful of people worldwide. But the reality tells a different story. According to Rare Disease International, there are between 6,000 and 8,000 known rare diseases, impacting an estimated 300 million people globally. That’s more than the population of the United States.
Yet despite affecting millions, rare diseases remain underserved when it comes to treatment access. That’s because traditional pharmaceutical access models simply weren’t built for the unique challenges rare diseases present.
The Problem with Traditional Access Models
Conventional access pathways are often designed for high-volume treatments. In rare diseases, the opposite is true and that changes everything. Challenges include:
- Small patient populations – rare diseases often affect less than 2,000 people.
- High-cost, low volume therapies with few or no alternatives – putting immense pressure on pricing, reimbursement, and sustainability.
- Complex local registration and distribution processes – which can slow or even block treatment availability entirely.
In this environment, models that prioritize volume, broad distribution, and standard market-entry timelines simply don’t work.
What Rare Disease Access Requires
An effective rare disease access strategy must be built for complexity and sustainability from the start. That means:
- Enabling patients to access their full course of treatment, not just a few boxes.
- Collaborating directly with local hospitals and providers to navigate product registration and supply chain obstacles.
- Engaging regulators, payers, and distributors early to address requirements and ensure long-term access.
- Creating win-win solutions that meet the needs of all stakeholders, from pharmaceutical companies to patients and caregivers.
The path forward: The next frontier in rare disease innovation isn’t just discovery—it’s delivery
As more rare disease therapies enter pharmaceutical pipelines, access models must evolve. Success will depend on shifting the focus from volume to patient-centered models that will enable these innovations to reach the greatest number of people.
To make that happen, the path forward is clear:
- Prioritize patient need, not volume.
- Design sustainable, flexible access pathways.
- Anticipate local regulatory and supply chain barriers. Don’t wait to react, plan ahead.
- Make innovation accessible, no matter how rare the condition.
Rare diseases may be individually uncommon, but together they represent a significant global health challenge. It’s time for access models that recognize that reality, because in rare disease, getting access right isn’t just about business. After all, what’s the purpose of innovation if it doesn’t reach the people it was intended for?
