The Porphyria Patient Voice Is Essential to Therapeutic Progress

Kristen Wheeden avatar

by Kristen Wheeden |

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Ever since my son Brady was diagnosed with erythropoietic protoporphyria (EPP) in 2009, my greatest hope has been that someday there would be a treatment for this devastating disease. At the time, I didn’t realize how many stars would need to align for this to happen. But now it seems a new constellation is forming due to some recent developments — and the patient voice has been involved every step of the way.

According to the United Porphyrias Association, Disc Medicine has announced a Phase 2 clinical trial to study the safety, tolerability, and efficacy of the investigational therapy bitopertin in participants with EPP. Researchers plan to do this by tracking participants’ protoporphyrin IX levels.

As Porphyria News’ Patricia Inacio, PhD, noted in a 2021 article, bitopertin “was shown to limit heme production and, as a consequence, the buildup of porphyrins that underlie EPP and other forms of porphyria.” These porphyrins are what react when a person is exposed to sunlight, wreaking unimaginable, yet invisible, pain and damaging the skin and liver.

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Given that there are more than 7,000 rare diseases, only 5% of which have an available treatment, I’m floored by the focus on EPP. One of the four cutaneous porphyrias, EPP only affects an estimated one in nearly 75,000 people. I am grateful to all the porphyria patients who have participated in clinical trials.

While the upcoming Phase 2 clinical trial is an exciting step forward in EPP research, bitopertin is not the first potential EPP therapy.

In October 2019, the U.S. Food and Drug Administration (FDA) approved Scenesse (afamelanotide) for the treatment of adults with EPP. After years of advocacy efforts, I fondly remember our community’s joy as patients and families celebrated this milestone.

Additionally, Mitsubishi Tanabe Pharma’s investigational therapy MT-7117 (dersimelagon) is currently in an open-label extension study to evaluate its safety and tolerability in participants with EPP.

As the mother of a son with EPP and the president of the United Porphyrias Association, I’ve heard many stories about how EPP therapies, either approved or investigational, have transformed lives. Because EPP is a phototoxic disease, ensuring safety often involves wearing protective clothing from head to toe and shadow jumping to avoid sunlight. With treatment, EPP patients experience reduced fear, anxiety, and pain in their everyday lives. Additional benefits range from being able to simply take a walk without trepidation to having the opportunity to pursue a new career.

Recently, one mom shared with me that she was able to take her two children to the beach and jump in the water with them despite her condition. For many, this might be a typical story, but for her, it was a moment that her family will always remember.

And now we have another potential treatment option. We have been a busy community!

Why the patient voice matters

It is astounding how many people and organizations (researchers, pharmaceutical companies, physicians, advocates, patients, and more) must collaborate successfully for a therapy to be approved by the FDA. There are myriad points at which this process can fail, and it often does.

But sometimes, the stars do align — and the patient voice is a critical part of that.

Participating in studies and research at expert porphyria centers, advocating for improved policies about rare diseases, getting in touch with the FDA, and connecting with one another are just a few ways patients have had an impact on the research pipeline.

I am blown away by the EPP patient community. You have done the hard work: flying to study sites, managing the disappointment of receiving a placebo during clinical trials, logging your experience in a journal, responding to countless study questions, and waiting for data and the results of your labor, which is kept masked until it is analyzed and published. In the end, your efforts will make a difference for you and for future EPPers. I offer my heartfelt appreciation to each of you who have toiled through studies and research. You are true warriors!

Let’s continue to hope for more, expect more, and work for more. We are well on our way to a world without the pain and challenges of porphyria.


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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