On 31 January 2012 Swiss TV channel Telezueri aired a report on erythropoietic protoporphyria (EPP), a rare genetic disorder which causes absolute intolerance of skin to sunlight, and Clinuvel’s novel drug SCENESSE® (afamelanotide), which has been trialled as a photoprotective in EPP. Clinuvel has subtitled the 'Check up' program and re-released for the broader EPP community.
Following Clinuvel's landmark filing of a marketing authorisation application for the drug SCENESSE® (afamelanotide) with the European Medicines Agency, CEO Dr Philippe Wolgen discusses the challenges to date and what may lie ahead for Clinuvel.
Have you ever wondered why you have been sunburnt on a cloudy day? Harmful ultraviolet (UV) rays can still penetrate the earth's atmosphere. To help understand why you can still get burnt in these (and other) situations, we've produced a short video on why UV levels vary. Produced by Clinuvel clinuvel.com
The total dose of UV radiation reaching the earth's surface, and hence the potential damage to human skin and tissues, varies, depending on many factors.
The sun's elevation in the sky depends on the time of the day and year. The shorter the distance that photons of UV radiation need to travel though the earth's atmosphere, the greater the intensity of UV on earth. The altitude of a location also effects UV radiation levels, as the higher a location is above sea level, the shorter the distance UV radiation needs to travel to reach the land.
The thinning of the ozone layer located above Antarctica has had a considerable impact on the ability of the atmosphere to absorb UVB: a significant contributor to the increased incidence of skin cancer and other damage to human tissues which has been observed in populations bordering the ozone hole.
Clouds act on UV, primarily, by scattering radiation. This effect can either reduce or enhance UV radiation levels, depending on the type of cloud cover. Some clouds absorb infrared radiation and as a result of the diminished heat sensation, people are given a false sense of security. They often change their behaviour on cloudy days, unaware that they are exposing themselves to this potential danger.
UV radiation is also reflected from surfaces such as sand, snow and water. These surfaces can increase the UV radiation at ground level and increase the amount of skin damage incurred from UV radiation exposure.
When all these factors are considered, it is important to recognise that the net potential UV risk is a result of these associated variables and will depend on an individual's circumstances. The only sure way to significantly reduce the risk of skin damage is with vigilant protection from UV radiation and light, known as photoprotection.
Image and video credits:
ESA/Hubble (M. Kornmesser & L. L. Christensen)
Ozone layer video courtesy of NASA
NASA Goddard Space Flight Center
Skin cancer and ultraviolet-B radiation under the Antarctic ozone hole: southern Chile, 1987--2000, Jaime F. Abarca, Casiccia - 2002
Global solar UV index: A practical guide, World Health Organization - 2002
Sources and measurement of ultraviolet radiation, Diffey - 2002
Erythropoietic protoporphyria (EPP) is a rare and severe UV/light related skin disorder. This video, from Clinuvel, outlines EPP and its impact on quality of life.
The Australian outdoor lifestyle has ingrained in us a distinct awareness and understanding of the dangers of sunlight and UV exposure. This unique insight makes knowledge of photodermatoses (UV/Light related skin disorders) all the more profound.
Erythropoietic protoporphyria (EPP) is a rare genetic disease where patients have a deficiency of an enzyme called ferrochelatase. Because of this deficiency, these patients are unable to convert the intermediate protoporphyrin IX (PPIX) into heme, one of the key components in blood. As a result, the PPIX chemical accumulates in the body, particularly in the skin and liver. When exposed to light and UV, PPIX causes a phototoxic reaction, resulting in intolerable burning pain and causing EPP patients to avoid light/UV exposure.
Clinuvel, an Australian Company, understands the nation's love of the great outdoors and the needs of people globally suffering from acute UV and light related disorders.
Mikey describes the intense pain of EPP as "feeling like your skin is burning off".
EPP is a genetic disease that causes severe phototoxicity (toxic reactions to light). When skin is exposed to light, especially blue light, it results in excruciating pain, swelling and blistering that may lead to scarring. The condition is referred to as "absolute intolerance to light", a fitting name as patients are forced to seek shadows and avoid light.
Mikey's determination to enjoy a camping trip with school friends when he was 11 years old resulted in an agonising reaction that left him with a vivid memory of the experience. Despite being fully covered by protective clothing and wide brimmed hat, the reflected light from the ground and vegetation was relentless and burnt his face resulting in intense pain and swelling.