There are a number of misconceptions about the interaction between sunlight and skin. In this two part post we look at what we think are the top five most common sun and skin myths.

Myth 1: I can’t get sunburnt on a cloudy day

While clouds may provide welcome relief from the heat and glare of sunlight, they do little to protect our skin from the ultraviolet (UV) rays which cause sunburn, skin cancer and other forms of skin damage. Cloudy days can be dangerously deceptive because they block much of the heat (thermal radiation) which we usually associate with high UV levels. As a result, we tend to assume our skin is not at risk when the weather conditions are overcast and drop our guard in terms of sun protection. Unfortunately, UV radiation is not entirely blocked by clouds and, in some instances, clouds can even intensify these harmful rays.

If you wish to be aware of the dangers on any given day, refer to information on your local UV Index rather than the temperature during that day. In addition, always remain vigilant about protecting your skin when outside, regardless of cloud cover.

For more, check out our recent video:

Increasing Ultraviolet Levels

Myth 2: Glass protects my skin from the sun

This myth is actually half true.

The sun produces three types of ultraviolet (UV) light: UVA, UVB and UVC. Of that which reaches the Earth’s surface, approximately 6% is UVB and 94% UVA. Most standard glass (such as the window glass in homes and cars) blocks only the UVB rays, the shorter wavelengths which cause sunburn. Glass, however, doesn’t block out longer UVA wavelengths, which are responsible for causing wrinkles and long-term skin damage which can lead to skin cancer. This means that glass may stop you from getting sunburnt but it does not protect against the other damaging effects of light. Modern glass tints (such as those used in many cars) may filter out some of the UVA rays, but these are never 100% effective and shouldn’t be relied upon to guard your skin against harmful UVA radiation.

Myth 3: A high Sun Protection Factor (SPF) sunscreen will totally protect me from skin cancer

There are some important factors to consider when using sunscreen, regardless of its SPF rating.

Firstly, most dermatologists advise that sunscreen is only one factor in our defense against the sun and should not be solely relied on to protect skin, particularly during the middle of the day when the sun is most intense.

Wearing protective clothing, including broad brimmed hats and long-sleeved garments made of tight weave fabrics will help reduce your exposure to harmful ultraviolet rays. You should also aim to avoid the sun during the middle of the day (approximately 11am till 3pm) when UV radiation is at its peak or seek shade where possible.

Secondly, always check that your sunscreen is a ‘broad-spectrum’ product, meaning it will protect you from both short and long ultraviolet wavelengths (UVB and UVA), both of which can cause skin damage and lead to cancer.

Finally, studies have found that most people do not use enough sunscreen, you’ll need to apply approximately one teaspoon of sunscreen to each segment of your body (i.e. each arm, leg and your face) to ensure it protects your skin effectively. It is important to apply your sunscreen before you head outside (preferably 15-30 minutes prior) and re-apply it every two hours that you stay in the sun (more regularly if you’re swimming or sweating heavily).

Part two of our sun and skin myths will be published next week

Further reading on Clinuvel.com

• Sun damage and sunburn
• Light and skin interaction
• UV damage and carcinogenesis

Image reference

‘sunset on a cloudy day’ posted to Flickr.com by Flavia_FF on February 7, 2004 <http://www.flickr.com/photos/mistressf/1274407715/>

It’s estimated that more than 9,000 Americans will die from melanoma this year and 76,000 new cases of the disease will be diagnosed. Melanoma, an aggressive skin cancer which can spread (metastasize) quickly to other parts of the body, is also the second most common form of cancer in young Americans (those aged 15-29).

Overexposure of skin to ultraviolet (UV) radiation significantly increases an individual’s risk of melanoma, particularly at a young age; just one severe sunburn in childhood can double the lifetime risk of melanoma. Sun protective measures such as clothing and sunscreen are seen as key to reducing melanoma risk.

Unfortunately, however, new research suggests that the ‘sunsmart’ message may not be getting through to young Americans.

A team led from the Memorial Sloan-Kettering Cancer Center in New York followed 360 Massachusetts students, surveying them in 2004 (during fifth grade) and 2007 (early teens) to gauge their attitudes towards, and behavior in, the sun. Fifty-three percent were found to have been sunburnt in the previous summer during both surveys, while positive attitudes towards tanning increased significantly between the two surveys. Startlingly, only 25% of the students admitted using sunscreen regularly in the follow-up survey.

The authors have used their findings to push for further research into promotion of the message at places which will have the most impact on children and adolescents (such as at beaches and sporting events), as well as for an increase in the overall sun safety message.

“We have to think about how we teach sun avoidance,” Dr Stephen Dusza, lead author of the study, told CNN. “A lot of the message that’s out there is focused primarily on sunscreen, but such things as the amount of time spent in the sun and shade-seeking behaviors should also be part of the message.”

Further reading on Clinuvel.com:

• Causes of skin cancer
• UV damage and carcinogenesis
• Skin cancer in children and teens

References

Dusza SJ et al, 2012, ‘Prospective Study of Sunburn and Sun Behavior Patterns During Adolescence’, Pediatrics, 129(2):309-317. Available online: http://pediatrics.aappublications.org/content/early/2012/01/18/peds.2011-0104.full.pdf+html [accessed 24/1/2012].

Strouse JJ et al, 2005, ‘Pediatric Melanoma: Risk Factor and Survival Analysis of the Surveillance, Epidemiology and End Results Database’, Journal of Clinical Oncology, 23(21):4735-4741. Available online: http://jco.ascopubs.org/content/23/21/4735.full [accessed 24/1/2012].

Skin Cancer Foundation, ‘Skin Cancer Facts’, Available online: http://www.skincancer.org/skin-cancer-information/skin-cancer-facts#melanoma [accessed 24/1/2012].

Adolescents more likely to ignore sun protection as they age, 23/12/210, CNN. Available online: http://thechart.blogs.cnn.com/2012/01/23/attitudes-toward-sun-may-change-in-adolescence/ [accessed 24/1/2012].

Image reference

‘sunscreen’ posted to Flickr.com by Muffet (liz west) on 29 July 2006, <http://www.flickr.com/photos/calliope/207427344/>

Young adults are the age group most likely to seek a tan, with research showing that people under the age of 29 – particularly women – are tanning most frequently, both in the sun and under solariums. Aside from the well-recognised risks of skin cancer, there is another consequence of this increased exposure to ultraviolet (UV) radiation of which many teens are not aware – photoaging. In short, all this UV exposure over time makes skin look older.

While the natural aging process, also called chronologic or intrinsic aging, is caused by time, gravity and genetics, photoaging is an accelerated form of skin aging caused by UV radiation. It is estimated that up to 90% of skin aging occurs as a result of UV exposure. Thus, photoaging is responsible for many of the flaws and blemishes seen in sun exposed skin, particularly on the hands, arms, face, neck, décolletage and legs. Photoaging is more extensive in those with fair skin (Fitzpatrick skin types I and II) and individuals who spend much of their time outside (i.e. tradesmen or sportspeople).

Signs of photoaging:

• Textural – UV radiation damages the elastin and collagen fibres which give skin its firmness and flexibility, resulting in changes to the skin’s consistency. The most common and visible indication of photoaged skin is wrinkling. Other textural changes include thinning, dryness, sagging, sallowness or thickened, leathery skin.
• Pigmentation – UV effects on the skin cells which produce pigment, called melanocytes, can result in uneven discolouration such as increased freckling, dark patches (solar lentigines) and light spots.
• Blood vessels – small blood vessels near the skin surface can become broken or dilated, creating spider veins (telangiectases), blood-filled vesicles (cherry angiomas) and bruising (senile purpura).

UV photography enables us to view the hidden damage caused by UV radiation, these changes beneath the skin will eventually manifest at the surface. The initial injuries, which are invisible to the naked eye, begin accumulating under the skin in a person’s late teens or early twenties.

Since the exposure which causes photoaging is amassed over many years, protection must begin at a young age for teens who don’t wish to age prematurely. Nonetheless, it is never too early or too late to begin protecting your skin from the ravages of the sun and UV light.

Read more about photoaging on Clinuvel’s Science of Skin website.

References

Canadian Association of Dermatology n.d., ‘Photoaging’, retrieved 13 December 2011, <http://www.dermatology.ca/photoaging/>.

DermNet NZ 2011, ‘Aging skin’, retrieved 13 December 2011, <http://dermnetnz.org/site-age-specific/ageing.html>.

Image reference

‘Skin folds(Old zacatecas lady cropped)’ uploaded to wikimedia commons by ‘Dobromila’ on 27 August 2010, <http://commons.wikimedia.org/wiki/File:Skin_folds(Old_zacatecas_lady_cropped).jpg>.

Earlier this week we unveiled a major update to our online presence with the release of our new-look website and the launch of Mothers & Children, a new site focusing on the pediatric and parental skincare.

Over the past five years the team has worked to continuously improve our online resources, expand into social media and build our presence on our Youtube channel (generating over 100,000 views in the process). The new site, Mothers & Children, is a direct response to what we saw as a key gap in online skincare information: up-to-date, accurate and concise information on caring for and protecting young and maternal skin. This is a new space for us and we’re excited to be able to compliment our extensive Science of Skin resources with this site.

We’re not standing still online. You will notice further changes in the coming months as they emerge from internal development and testing as well as new content being developed across the site.

Let us know your thoughts about our new site via Twitter, Facebook or email.

According to the U.S. Preventative Services Task Force (USPSTF), the best way to deter teens and young adults from overexposure to the sun is to demonstrate the effects ultraviolet (UV) radiation can have on their appearance.

The USPSTF, an independent panel of experts assigned to provide recommendations on an array of health prevention issues, looked at evidence indicating behavioural counselling could help to prevent skin cancer. The newly released recommendations, an update of the 2003 statement, suggest that teens’ behaviour can indeed be changed through counselling; particularly that which highlights the physical changes UV radiation causes to skin, such as premature aging and wrinkling.

Brief counselling sessions used a variety of materials: information booklets, videos, group sessions with peers and even the aid of an ultraviolet camera to demonstrate the underlying UV damage to facial skin not visible to the naked eye. It was found that adolescents, particularly girls in their late teens (the group most inclined to visit indoor tanning facilities), were less likely to pursue dangerous tanning behaviours when confronted with such looks-based interventions.

Information about the health problems caused by excessive UV exposure (i.e. the development of skin cancer) was moderately effective in enhancing individuals’ practice of sun safe behaviours. However, messages centering on appearance were far more successful in convincing younger age groups (10-24) to protect themselves. In a society focused on beauty, it appears that attractiveness weighs more heavily with young people than good health.

When it comes to youths, experts believe that health messages often fall on deaf ears because the consequences are a lifetime away and it is difficult for young people to envisage the impact of their actions long-term. So, while many sun safety campaigns have concentrated on the health implications of tanning, it seems this may not be the most effective way to get the message across.

The USPSTF recommendations listed several other approaches to improve awareness and reduce skin cancer incidence, including: public policies; social marketing of sun safety; enhanced education in schools and workplace initiatives. This guidance comes none too soon in the US, where skin cancer afflicts approximately two million citizens each year. In many cases these malignancies can be prevented by employing adequate sun precautions (i.e. wearing sunscreen, hats, protective clothing and keeping out of the sun during the hottest part of the day).

Editor’s note: The draft recommendations are available for public comment until the 6^th of December 2011, prior to their finalisation. They can be accessed at the USPSTF website http://www.uspreventiveservicestaskforce.org/draftrec6.htm.

References

MedlinePlus 2011, ‘Use Vanity to Reduce Young People’s Sun Exposure: Task Force’, retrieved 18 November 2011, <http://www.nlm.nih.gov/medlineplus/news/fullstory_118508.html>.

U.S. Preventative Services Task Force 2011, Behavioral Counseling to Prevent Skin Cancer: Draft Recommendation Statement, U.S. Preventative Services Task Force, retrieved 18 November 2011, <http://www.uspreventiveservicestaskforce.org/draftrec6.htm>.

Image reference

‘Sunbathing’ uploaded to flickr.com by ’masochismtango’ on 11 June 2007, <http://www.flickr.com/photos/masochismtango/540874976/>.

A protoporphyrin IX molecule

Over recent months I have written several times of the need for Clinuvel to prove clinical relevance in our trials with the use of SCENESSE® (afamelanotide) in erythropoietic protoporphyria (EPP). In orphan populations the need to demonstrate how a novel drug assists in their daily activities and improve their lives is at the forefront of the regulators’ minds. And so it should be, after all the objective of the pharmaceutical industry is to develop drugs which address either disease or symptoms adequately and safely. The results the company released yesterday from our Phase II US study of the drug in EPP (CUV030) have given us important data towards demonstrating clinically relevant improvement of patients’ lives.

In EPP we identified a patient population who are absolute intolerant of light and UV. Since childhood they have come to accept the causality between minimal amounts of light exposure and the price to pay for this. Once EPP patients expose themselves, they start feeling strange and subtle sensations of their skin, tingling, tickling and persistent stimulation. If they do not heed to these pre-warning signs, they literally burn their skin within minutes with irreversible damage. The pain described by the many patients suffering from this genetic disease is hardly describable, the scars are not only on their skin, they are literally condemned to an indoors and isolated life.

Each patient we have spoken to has vivid memories of burns and skin reactions – being forced into an isolated life at school, missing out on social occasions, having to wear protective clothing, having to explain their ‘invisble’ disease to family and friends and partners, most of all missing out on their children’s outdoors lives.

I see it as Clinuvel’s task to offer these patients a ‘normal’ existence: an ability to go outdoors and live with the anxiety of the consequences of light exposure. If the administration of SCENESSE® would enable these patients to lead a normal life during spring and summer, free of anxiety and to actively seek outdoors exposure, we would have succeeded in our mission.

The challenge has always been and continue to be for patients to overcome their lifelong anxiety, trust in the drug and slowly alter their behavior. In analysing the data of the latest trial (CUV030) we have identified how the patients on drug were seeking minutes and hours outdoors without suffering the painful episodes typically reported when suffering from this disease.

In the pharmaceutical sector, we all become aware of the scarcity of resources and need to demonstrate efficacy in life-threatening diseases, improvement of symptoms in severe diseases and better quality of life for patients. Mankind is entitled to an improved quality of life; efforts to better one’s existence should be the principal motive in developing drugs. This task has been quite challenging for Clinuvel’s teams over the years, but we have now witnessed and learned from US patients who received SCENESSE® how the treatment changed their spring and summer existence.

The many letters we received from the broader EPP community have been appreciated and at times have been endearing. The impact and degree of suffering EPP patients (and their families) have gone through is only realised when reading these letters. An existence in the dark for the majority of one’s life is hard to imagine.

I empathise with all of the porphyria community and express the hope that we can continue to assist all these patients who have endured their ordeal. It is a privilege to serve you.

While the evidence linking sunbeds to the development of skin cancer continues to mount, recent research provides new insight into the underlying mechanisms.

Radiation from both the sun and tanning beds is made up of various wavelengths, including visible light and several types of ultraviolet (UV) radiation. Ultraviolet B (UVB) rays, those which cause sunburn, have long been heralded the culprit which initiates skin cancer. It does this by damaging the genetic information (DNA) within skin cells, forming lesions known as cyclobutane pyrimidine dimers (CPDs) and pyrimidine (6-4) pyrimidone photoproducts (6-4PPs). These lesions create mutations in the DNA which can lead to the development of skin cancer (you can read about this process here).

New findings published in the Journal of Investigative Dermatology, indicate that another type of UV radiation, UVA, may be equally as damaging to the skin. UVA radiation – which, unlike UVB, is able to penetrate windows – has traditionally been associated with premature skin aging such as liver spots (solar lentigines), discoloured, sagging and wrinkled skin. This latest research indicates that UVA may also be able to induce some of these lesions (CPDs) in the DNA; according to author Dr. Antony Young, “It may be more carcinogenic than previously thought”.

In order to determine the damage caused by the various types of UV radiation, investigators irradiated the buttocks of 12 subjects. The study participants’ skin was exposed to similar doses of both monochromatic UVB (300nm) and broadband UVA1 radiation.

They found that the longer wavelength UVA was indeed capable of producing CPDs, though fewer in number and at a deeper level of the epidermis (outer layer of skin) than those induced by UVB. The way in which it does this is yet to be elucidated, though study authors say that it is likely to be a different mechanism to that of UVB radiation. Ultraviolet A did not generate the other type of DNA lesion, 6-4PPs, which resulted from UVB irradiation.

Since UVA is the form of radiation predominantly emitted by sunbeds, at levels up to 10 to 15 times higher than that produced by the sun at midday, these findings have reignited the debate over their use amongst minors. This new evidence that UVA, as well as UVB, can induce some of the DNA lesions leading to skin cancer increases the apparent risk to sunbed users. It is particularly dangerous because, without visible symptoms (such as sunburn from UVB rays), teenagers may be unaware of the skin damage they are incurring in a solarium.

References

Balk, SJ & Geller, AC 2008, ‘Teenagers and artificial tanning’, Pediatrics, 121(5):1040-2.

Tewari, A, Sarkany, RP & Young, AR 2011, ‘UVA1 Induces Cyclobutane Pyrimidine Dimers but Not 6-4 Photoproducts in Human Skin In Vivo’, Journal of Investigative Dermatology, published online ahead of print <http://www.nature.com/jid/journal/vaop/ncurrent/full/jid2011283a.html>.

Image reference

By NASA/Goddard/SDO AIA Team[see page for license], via Wikimedia Commons http://commons.wikimedia.org/wiki/File:Ultiwavelength_extreme_ultraviolet_sun.jpg

Nonsegmental vitiligo is a common pigmentary disorder where the skin gradually loses its colour (melanin) in patches. It is unknown precisely what causes the condition, though it is generally thought to be a result of autoimmune damage to the pigment-producing cells, called melanocytes. Vitiligo is a complex, multifactorial disease, meaning that it occurs as a result of interactions between ones genes and their environment. The fact that vitiligo often presents in close relatives (10-30% of vitiligo patients report a family history of the disorder) indicates that, to some extent, it is a heritable condition. In other words, in some cases a person’s genetic make-up can predispose them to vitiligo.

In those susceptible to vitiligo, several environmental factors (commonly called ‘triggers’), may determine if, or the manner in which, the disease develops. Potential triggers, which have been implicated in the onset or spread of vitiligo, include: stress; pregnancy; physical trauma to the skin; and exposure to certain pathogens or industrial chemicals. Vitiligo is believed to be a combination of these environmental factors with genetics, though in some cases the instigating factor is unknown and the vitiligo is termed ‘idiopathic’.

The genes which predispose some people to vitiligo have been aptly named “susceptibility genes”. Having these genes does not guarantee that an individual will develop vitiligo, but rather that under certain environmental conditions they are more likely to develop the disease than others in the population. An assortment of multiple susceptibility genes determines ones risk of developing vitiligo.

Researchers have been looking at vitiligo susceptibility genes for some time in an attempt to better understand the disease and ideally find ways to improve management, treatment and even prevention of vitiligo. One of the ways this is done is called “Case/control association” where differences in particular genes are studied in patients with vitiligo compared with healthy subjects. Another conventional method is “Family-based association”, which looks at genetic changes common to parents and siblings of those with vitiligo.

Several vitiligo susceptibility genes have already been identified, including: AIS1 (1p31), PTPN22 (1p13) and SLEV1 (17p13); many more are still under investigation. Among other functions, genes which influence the development of vitiligo may be involved in regulating melanocytes or the immune system (affecting an autoimmune response).

Knowing the genes concerned may allow medical scientists to tailor specific vitiligo treatments to suit these genetic aberrations. It will also enable tests to be developed so that individuals who are prone to vitiligo can be made aware of this propensity and adjust their lifestyles to avoid triggers where possible. Finally, though still in its infancy, gene therapy – the manipulation of a person’s genetic information to treat a medical condition – is advancing. Hypothetically, in the future, this form of treatment may be able to benefit vitiligo patients whose genetic variations are known.

For those with vitiligo interested in participating in genetic studies, please see the following link http://www.vitiligosupport.org/treatments_and_research/clinical_trials.cfm, under the title, “Take Part in International Study to Find Vitiligo Genes”.

Further reading

Spritz, RA 2011, ‘Recent progress in the genetics of generalized vitiligo’, Journal of Genetics and Genomics, 38(7):271-8.

Image reference

‘DNA rendering’ uploaded to flickr.com by ’ynse’ on 12 June 2007, <http://www.flickr.com/photos/ynse/542370154/>.

A recent study of melanoma in children and young adults indicates that there may be greater risk of metastasis, or spread, of the cancer in younger patients. The study, conducted by researchers at Baltimore’s John Hopkins Children’s Center, involved analysis of 2008 SEER (Surveillance, Epidemiology, and End Results) data on melanoma cases from 2003 to 2008. A total of 717 children and 1368 adults, aged 20-24, were diagnosed during this time.

Investigators looked at patients who received biopsies of the sentinel lymph nodes (SLN; those nearby the initial tumour) and the number of those in whom the disease had spread to this site. It was found that, of those biopsied, children were more likely to have cancer cells which had infiltrated the removed lymph nodes (25%), indicating greater rates of metastases than in adult patients (14%).

When the group examined the characteristics of the melanoma tumours most likely to spread, they discovered that the thickness of the tumour was the greatest indicator. Melanomas which were ulcerated or bled were also more likely to develop metastases.

Another significant finding was that young children, less than ten years-old, were at a higher risk of forming metastases than any other demographic in the study. Researchers hypothesised that the increased invasiveness of these tumours may be due to fundamental differences in the disease in these age groups. Alternatively, some speculate that children’s bodies respond differently to the melanoma than adults’. Despite the differences in spread of the disease among children and young adults, survival rates of those with metastatic melanoma were similarly poor.

While pediatric melanoma is comparatively uncommon, its incidence is increasing. Many dermatologists attribute this rise to greater exposure to ultraviolet (UV) radiation from the sun, or solariums, at a young age. They advise that parents adequately protect their children whilst outdoors and do not allow them access to tanning beds; which have proven links to skin cancer development.

Furthermore, due to the rarity of melanoma in children, the disease is often detected later, after metastasis has already occurred. In terms of treatment, the earlier melanoma is identified, the greater the patient’s chance of survival. Thus, parents should regularly check their children’s skin for the development of new or suspicious moles, or changes to existing ones. Any concerns should be directed to a pediatrician, dermatologist or the family’s general practitioner.

Reference

Mu, E, Lange, JR & Strouse, JJ 2011, ‘Comparison of the use and results of sentinel lymph node biopsy in children and young adults with melanoma’, Cancer, published online ahead of print <http://onlinelibrary.wiley.com/doi/10.1002/cncr.26578/abstract>.

Image reference

‘Metastatic melanoma’ uploaded to Flickr.com on April 4, 2011 by Pulmonary Pathology <http://www.flickr.com/photos/pulmonary_pathology/5601356718/>.

Since 2006 Clinuvel has trialed SCENESSE® in a truly unique group of individuals: patients living with erythropoietic protoporphyria (EPP), a rare genetic blood disorder which causes an absolute intolerance to light.

EPP prevents patients from leading ‘normal’ lives, especially outdoors. It is one of the few diseases that manifest clinically with initially invisible symptoms which cause severe dermal pain for several days. This not only presents a challenge for diagnosis and treatment, but also for generating meaningful clinical trial results – those which are measurable numerically and are used by regulatory authorities to evaluate the efficacy of a drug in a patient population. Here, real life patient experiences during a trial can play an important role in providing clinical relevance and analysing hard data.

I had never seen a case of EPP clinically prior to the commencement of our program with SCENESSE® (this is, I expect, the case for the majority of physicians, and even dermatologists). Yet, I’ve since spent many hours talking to EPP patients and their physicians, reading their correspondence and discussing this contact with the Clinuvel team to try to better understand EPP and how we may measure and evaluate the effects of our drug clinically and in a ‘lived’ experience.

Understanding EPP in practical terms is difficult for someone who has never had this first-hand experience. An EPP burn, patients tell us, is not like sunburn or a scald. The pain is an intense deep burning sensation without relief, yet is largely invisible (at least for the initial reaction).In the following days skin can be painful and swollen or develop into blisters, a rash, scabs or crusts. During this period, many EPP patients report an inability to focus on anything other than their reaction, seeking the dark and relying on high-dose pain killers or sleeping medication for distraction. A 1987 patient survey conducted by E Rufener of the Brain Research Institute at the University of Zürich – one of the first to recognise the social and psychological distress EPP causes – suggested that personality changes and suicidal thoughts were common following a reaction.

Seemingly trivial day-to-day tasks can cause a reaction or must simply be avoided due to the anxiety of provoking an EPP reaction. To provide context, most EPP patients will incur one or two ‘severe’ reactions to sunlight (i.e. those requiring hospitalisation and prolonged use of analgesics) in their lifetime; following this experience there is a – well justified – fear of incurring such burns and pain again and so subsequent exposure is avoided. Work and other activities are left to the twilight hours or are endured with an extreme risk of severe pain or the serious discomfort of bulky ‘sun gear’ (and the unwanted attention it can bring). Thus, following diagnosis of EPP, the standard advice given to patients to date is that they should avoid sun and light exposure and hence avoid the pain it can cause.

Yet, to suggest someone should simply ‘avoid sun’ fails to account for the practical realities of such an endeavor or the devastating effect it can have on work life, social interaction (particularly during the crucial development years of childhood) and physical and mental well-being. Many of these individuals are forced to live a nocturnal life or with the constant fear of sunlight exposure, knowing that even accidental exposure may cause debilitating pain and force them indoors for several days. It is unsurprising that EPP patients report much higher levels of mental illness and unemployment compared to the general populace.

Adults with EPP are forced to learn their limits. They change their whole way of life and adopt behaviours to avoid reactions and the consequential pain. In childhood, however, a lack of diagnosis (the ‘average’ age of diagnosis is 8 years old) and understanding of EPP can lead to horrific, painful reactions. Many children with EPP, desperate not to appear different to their peers, will participate in outdoor activities and endure the pain of an EPP reaction until it reaches a critical, intolerable level and they recieve severe burns. Hospitalisation and/or heavy sedation at this point are not uncommon. This is a burden no child or their parent should have to endure at these times.

It is Clinuvel’s goal to make a therapy available to this patient group – initially as adults, but with a longer term view to all with EPP – to reduce the mental and physical burden of EPP and help patients live a daily routine with exposure to light, something that many of us take for granted. The questions the team is seeking to answer now (with clinical results from two late stage EPP studies) are intended to help us reach this goal. In short, we need to know how the treatment of EPP with SCENESSE® can be evaluated statistically and, just as importantly, with an understanding of the impact of EPP on their daily lives (i.e. clinical relevance).

More than 250 individuals with EPP have been involved in our clinical program to date across three continents. Following the completion of our studies a large percentage of these have corresponded with the company – either directly or through their treating physician – to provide feedback or support for the program. Here, real-life feedback from patients who are returning to work, taking part in social activities outdoors for the first time or being able to conduct daily tasks without pain or fear of a reaction, all make for powerful ‘data’, particularly when contextualised with the severe physical and social impact of EPP prior to therapy.

The personal nature of this correspondence and willingness to share has struck me and continues to be a humbling experience. Yet, what many of these individuals probably haven’t realised is the true impact of their words on helping to further our EPP program. Over the years patient correspondence has not only helped reinforce the value of the program to the team but provided us with invaluable insight well beyond what we see in statistics or numbers. As we now approach the release of final analysis from our two studies, personal reminders that the therapy has dramatically altered an individual’s life for the better and allowed him or her to ‘live normally’, means we appear to be achieving the goals we have for our patients. In terms of how we review results, approach numbers and conduct our discussions with physicians, these powerful patient experiences are never far from our minds.

Reference

Rufener, EA 1987, ‘Erythropoietic protoporphyria: a study of its psychosocial aspects’, British Journal of Dermatology, 116:703-708.