Product information and disease description Place of product in therapy Approaches to treatment Current treatment options and standard of care

Limitations of current therapies

4 evidence topics · 7 sources

Summary: constraints on the current standard of care

No therapy is approved for patients younger than 18 years, and afamelanotide, the only approved product, is indicated for adults with erythropoietic protoporphyria and not for X-linked protoporphyria. Afamelanotide is a fixed-dose subcutaneous implant administered every 2 months by a trained and accredited implanter at a recognized porphyria center, which limits dose adjustment and restricts the sites able to provide it. In a United States claims analysis of 696 patients with either disorder, 7.6% received any treatment for the condition and 3.9% received afamelanotide, with a median treatment duration of 5.68 months. Clinical practice guidelines recommend against beta-carotene, cysteine, cimetidine, and other systemic agents for prevention of phototoxic symptoms, and identify no effective treatment for an established phototoxic reaction. Sunlight avoidance remains necessary during treatment and is associated with vitamin D deficiency.

Absence of any approved pediatric therapy

“There are no approved therapies for pediatric patients.” (opens the source at this quote in a new tab)

“because of its mode of administration as a 16 mg fixed dose slow-release subcutaneous implant, dose-adjustments of the currently approved formulation of afamelanotide are not possible, which makes it unsuitable for the treatment of children. Afamelanotide is also not sufficiently effective or suitable for all adult patients, and, being a symptomatic treatment, does not address the increased risk for EPP-related liver failure. Moreover, because of lack of reimbursement, afamelanotide is not yet available to patients in many countries, despite being the only approved treatment for EPP” (opens the source at this quote in a new tab)

“The European Medicines Agency has deferred the obligation to submit the results of studies with SCENESSE in one or more subsets of the paediatric population in erythropoietic protoporphyria” (opens the source at this quote in a new tab)

Administration site and coverage restrictions

“The low number of afamelanotide users observed in this study, and the low duration of treatment and adherence, likely reflect both the restricted patient access limited to specific treatment centers authorized to administer afamelanotide as well as the strict insurance coverage criteria, including prior authorization, time-limited approvals for initial use, and requirements for evidence of clinical benefit to support continued treatment.” (opens the source at this quote in a new tab)

“Guideline-recommended pharmacological management of EPP symptoms among adults is currently restricted to afamelanotide; however, this therapy is not indicated for pediatric patients or patients with XLP, and there are limitations to access to this drug because administration is restricted to specific centers. There is a clear need for additional efficacious and accessible treatment options.” (opens the source at this quote in a new tab)

Residual burden during treatment

“A recent study in the Dutch cohort shows that, despite receiving treatment with afamelanotide, which normalizes the time patients can spend outdoors, many patients remain deficient in vitamin D.” (opens the source at this quote in a new tab)

“Maintain sun and light protection measures during treatment with SCENESSE to prevent phototoxic reactions related to EPP.” (opens the source at this quote in a new tab)