Only a few minutes in the sun are usually enough for EPP patients to develop phototoxic reactions and experience the first symptoms, such as burning and excruciating pain. When treated with afamelanotide, they can lead an almost normal life and spend hours outdoors. How long exactly has now been determined in two studies with patients from Switzerland, the Netherlands and the USA, as presented at the International Congress on Porphyrins & Porphyrias, held in Milan, Italy from 8 to 11 September. The tolerance for phototoxic reactions in the Swiss study increased from a median of 10 minutes to a median of 180 minutes. In the Netherlands and the US, where another protocol was used to record time, patients reported being able to spend up to more than 360 minutes outdoors without symptoms.
Finally, these results now adequately reflect real life patient experience! Instead of calculating averages, as in previous studies, where rainy days and office time significantly diluted the measured effect, treatment centers are now documenting what matters to us patients: How long can I actually spend outdoors on sunny days without developing massively painful phototoxic reactions? Manuscripts detailing the studies are in preparation for submission to scientific journals.
This evolution in the measurement approach is an important step forward in learning how to assess the effect of treatment in EPP. Absent of any existing EPP therapies and any prior experience on how to assess efficacy, it is not surprising that the first studies could not appropriately capture the true benefits of afamelanotide. In addition, both in EPP in particular and in rare diseases in general it is all the more important to listen to what matters to the patients and their caregivers because they know best whether a treatment benefits them or not. Thanks to these new data, we hope that the European Medicines Agency will now understand and finally recognize the real benefits of the treatment to us patients and change their scientifically questionable conclusions, which significantly contribute to the current therapy access challenges throughout Europe. On the back of these new data, it is even more unacceptable that EPP patients are still denied access to the only proven and highly effective therapy or that they have to fear to lose their newly gained normal life without the pain and limitations given by their condition. Decision makers can now end this regrettable situation and we hope that they will seize this opportunity!