Disappointed by the FDA’s ruling on an investigational EPP treatment
Accelerated approval of bitopertin was denied, but we remain hopeful
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A few weeks ago, our porphyria community received bad news. The U.S. Food and Drug Administration (FDA) issued a complete response letter to Disc Medicine’s new drug application for bitopertin, an experimental oral therapy designed to treat erythropoietic protoporphyria (EPP) or X-linked protoporphyria. This means the FDA rejected the application, citing insufficient data. More data from an ongoing clinical trial are needed before the agency will consider approval.
Disappointment does not begin to cover it.
For families living with EPP, spring brings the terror and calculation of avoiding sun exposure. Logging moments in the sun before the guarantee of excruciating pain. Parking lot strategy. Who walks the dog. Who attends the soccer game. Who sits in the car that has been carefully and expensively tinted. Gearing up in protective clothing and still hiding in the shadows.
We had hoped this year would be different.
A long road toward light
Several thousand people in the U.S. live with EPP, including my youngest son, Brady. Exposure to visible light triggers rapid, severe pain that starts within minutes and wreaks torture for days. Brady has less than a minute before he feels the intensity of a reaction.
No therapies existed. The FDA’s approval of Scenesse (afamelanotide) for EPP in October 2019 marked progress, but it did not solve everything, and it is not approved for children.
Bitopertin represented another path forward. A different mechanism.
Patients showed up and enrolled in trials. They logged sunlight exposure. They documented their experience. They organized their lives around research visits.
An ultra-rare community initiated a movement, and I’m so proud of every research participant across the globe. But it was not yet our time for access to a new treatment.
Timing and the bigger picture
The FDA decision came just days before Rare Disease Day. The timing is coincidental, but it’s hard not to notice the contrast between an event highlighting rare diseases and the denial of a rare disease treatment.
Regulatory agencies emphasize the importance of listening to what is clinically meaningful and of valuing lived experience, and we believe them. In EPP, “clinically meaningful” sounds simple but is profound.
It’s walking across a college campus without fear. It’s staying at your child’s baseball game until the last inning. It’s not planning your life in 30-second increments. It’s freedom measured in hours rather than minutes.
Research participants taking bitopertin have reported life-changing, meaningful benefits. They have described changes in tolerance, in confidence, in the ability to participate in ordinary life. Those voices are also real data.
For the kids
This moment is especially heavy because of the children.
EPP shapes childhood and identity. It affects whether an individual feels included or different. Kids who don’t look sick are called dramatic. They are told to “just try.” They hide behind hoodies in July. They memorize where the shade falls at recess. The mental health impact is real.
There is still no approved therapy for them. That is the unmet need. That is the urgency.
We cannot talk about rare disease innovation in broad, inspiring terms while children with documented, measurable disease have no options.
Disappointed, not defeated
Our community has done its part. We are collaborators in research and development.
Bitopertin is in the spotlight now. It carries the weight of urgency and expectation. But it is not alone. Other therapies are in the pipeline, preparing for their moment. Dersimelagon. PORT-77. The science is strong, and so is our hope!
Yes, we are disappointed. We are frustrated. Some of us are angry.
But we are not defeated.
If history has taught the porphyria community anything, it is that progress is rarely linear. We have faced misdiagnosis, disbelief, and decades of neglect, yet we have built a research ecosystem that now includes global experts, coordinated trials, and a growing pipeline.
We will rise again alongside one another. Hope with organized action is powerful.
And this community, this “porphamily,” has already proven that when we move together, we move mountains. So we face this next chapter the same way we have faced every other one: with hope that does not quit.
Note: Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Porphyria News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to porphyria.
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