EPP Patient Journey: Oral Therapies and Regaining Freedom in the Sun

In "EPP Patient Journey: Oral Therapies and Regaining Freedom in the Sun," the conversation turns to the newer oral agents Mr. Willis has taken.

Dr. Bonkovsky reminds Mr. Willis that he later joined a placebo-controlled trial of dersimelagon, a small-molecule melanocortin-1 receptor agonist with a mechanism similar to afamelanotide that increases skin pigment and reduces photosensitivity. Mr. Willis became much darker than before, so he knew he had the active drug. He liked that the effect was consistent, without the start-up and cooling-down periods he experienced between implants. That consistency eased the mental strain and gave him confidence to be more aggressive about sun exposure.

Next came the Phase 3 trial of bitopertin. Dr. Bonkovsky explains that the drug inhibits the glycine-1 transporter, reducing glycine uptake into developing red cells and the substrate for the first step of heme synthesis. He notes there were early concerns about anemia and other adverse effects. Mr. Willis had none apart from mild dry skin and dizziness lasting 15 to 20 minutes after his first dose. Without pigmentation to give him confidence, he committed to pushing the limits anyway, and he received active drug. He has had three and a half years of benefit, including more than two years of open-label extension and expanded access. He recently went to the beach with his family for the first time without full gear and got a real sunburn. He says a porphyria phototoxic reaction is far worse.

Asked which drug has been best over nearly 15 years, Mr. Willis credits bitopertin as easy and exceptionally effective. He values the pigmentation he gained from dersimelagon, but with bitopertin he develops only a farmer's tan and a hat-band tan. Dr. Bonkovsky notes that he has tolerated it well.

Our next episode, "EPP Patient Case: Laboratory Findings and Commitment to Clinical Research," reviews Mr. Willis's laboratory findings and explains why he chose to keep participating in research.