Thoughts on the Year that Was and What Will Be


The year 2017 was one that inspired hopes in rare disease patients with the advance of innovative technologies in the pipeline that promise to deliver breakthrough treatments for diseases that have none. It culminated in the approval of Luxturna, Spark Therapeutics’’ gene therapy for a certain form or a rare inherited eye disease that can cause blindness.

We are at a time when scientists and doctors, long loath to call anything a cure, now talk about cures within reach. With advances in genetics, rare disease patients are better able to achieve a diagnosis and give name to the cause of what ails them. And the pipeline continues to grow with promising therapies that not only treat progressive and deadly disease, but have the potential to correct the underlying cause of them with a single administration of a treatment. 

This past year brought the first treatments for rare neurodegenerative diseases including BioMarin Pharmaceutical’s Brinura for a form of Batten Disease and Ultragenyx Pharmaceutical’s Mepvesii for MPS VII. The pipeline of gene therapies, cell therapies, and gene editing technologies is putting us on the cusp of a revolution that could free patients from the hold of their diseases.

Regulators and drug developers have come to recognize the value of the patient as a source of insight and guidance and continue to take steps to ensure they have a greater voice in the continuum of drug discovery and development. With advances in genetics, rare disease patients are better able to achieve a diagnosis and give name to the cause of what ails them. The U.S. Food and Drug Administration has shown greater flexibility to advance and approve treatments to meet unmet needs with speed in recognition of the urgency patients face.

But despite the enormous advances, there is cause for concern. The year ended with an assault on the Orphan Drug Tax Credit and healthcare affordability. Though rare disease advocates take solace in the fact that rather than losing the tax credit, an important incentive for drug developers to pursue therapies for rare diseases, the final version of the tax bill only cut it in half. But even if drug companies are not dissuaded from bringing breakthroughs through the development process to market, there’s growing reasons to worry about whether patients will be able to pay for new therapies.

The tax bill, in repealing the individual mandate of the Affordable Care Act, is expected to cause more than 13 million Americans to lose their healthcare coverage. It is also expected to cause premiums for others to rise.

Though naval-gazers may enjoy contemplating whether a tree that falls in the forest makes a noise if no one is there to hear it, a more practical question as we move into 2018 is, “Does a therapy that a patient can’t access provide a cure?”

During the debate that led to the passage of the Patient Protection and Affordable Care Act and the debate to undo it, little discussion centered on the fundamental question of whether healthcare is a right or a privilege. Different sides of the healthcare debate operated from an assumption that it is was or wasn’t such, but little if any effort was made to address that fundamental question and establish an agreed upon answer.

And, if healthcare is deemed a right, it is also necessary to determine what that right means. Does it mean that if someone needs emergency medical services that they are entitled to receive care to stabilize them? Or, does it mean that someone has the right to the appropriate treatment to treat their condition? If a gene therapy is available to cure a rare disease, should everyone be entitled to it regardless of their ability to afford it?

With Luxturna now approved, it will likely set off a public discussion about the pricing of gene therapies. Spark has not yet stated what it will charge for its gene therapy, but it’s widely expected to cost as much as $1 million for a treatment. What is less likely to be discussed are the broader issues of access and equity in healthcare.

Who has the right to access? Who pays? Who determines the value of a therapy? These questions are not abstractions to ponder, but real issues that need to be addressed. To go without a treatment for a rare disease because none exists is maddening. To go without access to a life saving therapy or cure because a patient can’t afford it is inhumane.

December 30, 2017

Filed Under: Healthcare, Insights, Policy

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