A new Australian drug has been shown to assist in protecting patients with a rare genetic disorder that makes their skin toxic to light and UV, and previously forced them to live in the shadows.
“As a physician, living this experience is, for me, a great satisfaction and reward.”
Results released today from a Phase III trial of the drug SCENESSE®, conducted by Melbourne-based Clinuvel Pharmaceuticals, have shown that the drug has the ability to reduce and prevent painful phototoxic reactions experienced by patients with erythropoietic protoporphyria (EPP).
The 12 month European and Australian study of SCENESSE® (generic name afamelanotide) is the first large scale study of a preventative drug for patients with EPP, dubbed an 'orphan' disease due to its rarity and severity. Clinuvel had to develop new study methodology with global EPP experts to be able to successfully evaluate SCENESSE® as a protective treatment.
EPP is characterised by intolerable pain: patients' skin burns, blisters and scars when exposed to normal levels of light and sun. The disease is incurable and affects patients for life. As a result, EPP patients are forced to live indoors or to 'shadow jump' when outside; living so as not to expose their skin to a ray of light. It is estimated that 10,000 individuals worldwide are afflicted with EPP.
"Porphyria is a very severe disease causing great pain to patients when their skin, even briefly, is exposed to light, therefore changing their Quality of Life' said Dr Gianfranco Biolcati, world expert in the disease and head of the Italian Porphyria Centre at San Gallicano Dermatology Institute - IFO - in Rome where 22 patients underwent treatment with SCENESSE® in the trial. "Until now there has been no effective treatment for EPP."
Analysis of results from the Clinuvel study showed that SCENESSE® treatment significantly reduced the average daily pain severity scores experienced by EPP patients compared to placebo.
Further results suggested that treatment with SCENESSE® allowed patients to expose their skin to sunlight and spend more time outdoors; previously unheard of in EPP. Importantly, SCENESSE® was well tolerated by all patients with no serious safety issues identified. Complete results from the study will be presented at the 19th Congress of the European Association for Dermatology and Venereology in Gothenburg, Sweden, in October.
"Since commencing treatment with SCENESSE®, we have seen marked improvements in EPP patients' abilities to lead normal lives, without fearing pain during exposure to the sun," Dr Biolcati said. "As a physician, living this experience is, for me, a great satisfaction and reward."
"We have shown mathematically what we already learned from anecdotal reports from our clinics: SCENESSE® has great potential to help those patients with a genuine medical need for protection from UV and light," said Dr Hank Agersborg, Clinuvel's Chief Scientific Officer. "Perhaps more importantly, we have again seen that the drug is safe for these patients longer-term."
Clinuvel's CEO, Dr Philippe Wolgen, said that the results were very positive for EPP patients and the company's overall program for SCENESSE®.
"We are confident of being able to present an adequate dossier for regulatory review. Board and management will convene around the table the in the coming weeks to determine the optimum timing of filing," Dr Wolgen said.
"The past four and half years this team has shown diligence and prudence in the way it works and approaches complex issues, and the same approach will be applied in the European and US filing process to ensure we stand the best chance of success for EPP patients and our investors." Dr Wolgen said.
Clinuvel Pharmaceuticals Limited