On the dark side of medicine access
By Jasmin Barman-Aksözen, co-founder of the International Porphyria Patient Network, Zurich, Switzerland
From Medicine Access @ Point of Care
“Being a molecular biologist with a PhD degree in my own genetic condition has already helped me to understand many aspects of the ultra-rare disease, erythropoietic protoporphyria (EPP). Moreover, having contributed to the development of the first safe and effective treatment for EPP, and having even tested it myself, made me a suitable candidate for patient representation during the approval proceedings for "afamelanotide" at the European Medicines Agency (EMA). At that time, little did I know that this was just the beginning of a long journey, along which I would have to apply the same scientific scrutiny necessary for completing a PhD on the EMA’s own work. In fact, after approval patients started to experience inexplicable access hurdles in nearly all EU member states. This deeply troubled me and, while I would rather be at the bench testing my research hypotheses and enjoying my newly gained normal life after the lab work, I felt an urgent need to understand why a life-changing therapy was being unreasonably withheld from a majority of my fellow EPP sufferers. I therefore started to work through piles of regulatory documents in the hope to find answers on why the EMA, in their final assessment report, question the benefit of the only treatment that enables me to stay in the sunlight without suffering from unbearably painful burn wounds in my blood vessels.
Yes, you read correctly: EPP is the nightmare condition that makes you fear the light. In this metabolic disorder, phototoxic precursors of the red blood dye "heme" poison the bloodstream. As a consequence, from childhood onwards sunrays and even strong artificial light sources immediately trigger so called "phototoxic reactions", which cannot be managed by any pain medication and leave the sufferer in agony for days, in a state that goes beyond any other type of pain ever experienced. In contrast, under treatment with afamelanotide, EPP patients can stay in sunlight for several hours a day without any symptoms, are able to take up jobs and sports, and become more integrated into society. This is what we as patient representatives shared with the EMA and, in 2014, our testimonies together with the trial results and the favourable long-term safety profile convinced the regulators to recommend granting a marketing authorisation under exceptional circumstances for afamelanotide for the prevention of phototoxicity in adults with EPP.
However, as detailed in their European Public Assessment Report, the EMA inexplicably subject the trial results to a series of scientifically unreasonable post-hoc analyses, some of which I describe in my recently published article in Medicines Access @ Point Of Care. Analyzing all publicly available EMA documents of the approval proceedings, I found around 20 major inconsistencies, which all either make the treatment appear less effective or unnecessarily increase the efforts (and therefore the costs) for physicians to provide the treatment. So far all attempts to make the EMA change at least the most blatant inconsistencies have been unsuccessful, which is why I turned to the scientific community to raise awareness on this disturbing situation. Patients need to be able to trust the outcomes of regulatory assessments regarding safety and efficacy of new drugs, in order not to be held prisoners on the dark side of access. Giving EPP patients a voice so that they can step out of the dark and into the light is what drives me forward, it has become my mission.”
Patient empowerment and access to medicines: Insights from a scientist-patient suffering from erythropoietic protoporphyria