Batten disease is one of the rarest diseases in the world. In fact, it only affects about two to four out of every 100,000 births in the United States, which is approximately 20 or so American babies each year.
Despite its rarity, there is a drug available for treatment that was just approved in April of this year. The drug is called Brineura, and it is an enzyme replacement therapy pioneered by BioMarin Pharmaceuticals. While Brineura was a huge breakthrough in the Batten disease community, it does not cure the disease, but rather, delay its major symptoms.
Further, the drug is one of the most expensive in the world, costing $27,000 per biweekly infusion, or about $700,000 per year, and it will likely only be effective in a small genetic subset of Batten disease patients.
However, now that there is at least one innovative therapy option out there, it is likely that more therapies will be coming down the pipeline over the next couple of years. The question then just becomes:
Will these drugs even have a price that makes them accessible to those that need them?
With all of these issues, it is fortunate that the Batten disease community, and the rest of the rare disease community for that matter, has a voice sticking up for them in Washington, where all of the orphan drug policy takes place.
The voice is that of Paul Melmeyer, the National Organization for Rare Disorders’ director of federal policy, and he wants to make sure that the entire Batten disease population will have access to treatment. Paul will not be working alone, however, as part of NORD’s 260 or so member organizations is the Batten Disease Support and research Association, which is a nonprofit group that works to promote the civil and human rights of people with Batten disease.
They’re going to need all the help they can get, especially in light of the repeal and replace initiatives against the Affordable Care Act, and Melmeyer recognizes that drug pricing is “a delicate balancing act” between pricing and encouraging innovation for individuals with rare disease.
Even so, at least there are voices out there working to ensure treatment for even the rarest of rare disease patients.
To learn more about this pricing issue, and the NORD’s work in Washington, click here.
