Scenesse quickly calms burning light pain for 9-year-old with EPP
Implant restored her ability to attend school, play outside within days
A treatment approved for adults, called Scenesse (afamelanotide), successfully treated a 9-year-old girl with erythropoietic protoporphyria (EPP) and extreme light sensitivity that required her family to live in darkness.
According to a case study from Switzerland, the medication safely restored her light tolerance within days, quickly returning her to school and a normal life.
The child had long managed her EPP-driven painful reactions to light using protective clothing and other light-avoidance measures. However, her light intolerance abruptly intensified to the point that even light passing through windows, artificial indoor lighting, and the glow of a computer screen triggered intense burning pain.
The case suggests that “approved therapies for adults should be evaluated for the treatment of children with EPP,” researchers wrote.
The study, “From Darkness to Light – Case Report on Afamelanotide-Treatment in a 9-year old Child with Erythropoietic Protoporphyria,” was published in JAAD Case Reports.
What causes EPP?
Like other types of porphyria, EPP is caused by a defect in the body’s ability to make heme, a molecule essential for transporting oxygen in the bloodstream. When heme production is disrupted, its precursor, protoporphyrin IX (PPIX), builds up in red blood cells, the liver, and the skin.
Because PPIX is highly sensitive to certain lights, even brief exposure can trigger phototoxicity, an intense burning pain caused by reactive oxygen species produced when PPIX is activated by light. Symptoms typically begin in infancy, although some individuals are diagnosed later in life.
Scenesse, marketed by Clinuvel, is a small implant inserted under the skin that increases the production of eumelanin, a brown pigment that helps protect the skin from light. The therapy is intended to reduce painful reactions to sunlight and ease porphyria symptoms, but is currently approved only for adults.
In the study, a team of researchers in Switzerland describes the case of a young girl who received off-label treatment with Scenesse, leading to a rapid reversal of her sudden, extreme loss of light tolerance.
The girl had been diagnosed with EPP at age 5 after tests showed elevated PPIX levels in her red blood cells. For years, she relied on protective clothing, hats, gloves, long sleeves, and accessories such as umbrellas, measures that “provided partial protection from phototoxic reactions,” the researchers wrote.
Following a lung infection in the winter, however, her symptoms intensified dramatically. Early that spring, she developed a persistent phototoxic reaction that lasted for weeks. The pain was severe enough to disrupt sleep and school attendance.
“At first, she was able to attend school on an hourly basis only, and later she was unable to attend school at all for six weeks, necessitating homeschooling,” the researchers wrote. Even minimal exposure, including light filtered through curtains, reflections from indoor surfaces, and the brightness of screens, caused overwhelming burning pain.
Ultimately, “her symptoms required the whole family to live in darkness for several weeks to avoid exacerbating her phototoxicity,” the researchers noted.
Rapid recovery and quality-of-life boost
After discussing options with the family, doctors administered the 16 mg adult dosage of the Scenesse implant. The treatment was well tolerated, with mild nausea reported during the first two days.
Within three days, the family began reopening shutters and reintroducing light into the home. By day four, the girl returned to school for a four-hour session. It was her first time back in nearly 10 weeks. She soon resumed normal attendance and joined classmates for outdoor activities and school trips.
Her quality of life also improved significantly. Using a validated EPP-specific questionnaire, her quality-of-life score rose from zero before treatment to 55.6 after five weeks, a meaningful recovery on a scale ranging from zero (worst) to 100 (best possible quality of life).
“The reason for the dramatic worsening of the symptoms in our patient remains unclear,” the researchers wrote, although they noted that similar episodes have occurred in other Swiss patients after infections treated with antibiotics.
“Our young patient showed positive responses to the treatment with [Scenesse], allowing her participation in social life, and no significant or unexpected side effects were noted,” the researchers concluded. “Hence, we suggest that approved therapies for adults should be evaluated for the treatment of children with EPP.”
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