Name: Dersimelagon (MT-7117) in Erythropoietic protoporphyria or X-linked protoporphyria: Economic impact of diagnostic testing
Published: 2026-09-21T21:42:40-04:00

Product information and disease description Place of product in therapy Disease description Burden of Erythropoietic protoporphyria or X-linked protoporphyria

Economic impact of diagnostic testing

3 evidence topics · 3 sources

Measured cost of the diagnostic pathway

“Average costs from symptom onset to diagnosis of EPP or XLP were approximately USD600 per patient. Once diagnosed, average costs of referrals and tests in the first year were approximately USD400 across all patients.” (opens the source at this quote in a new tab)
“The mean (SD) number of specialist referrals before diagnosis was 2.8 (3.6) with a median of 2.0. Referrals were primarily to dermatologists (48%) and hematologists (22%).” (opens the source at this quote in a new tab)
“Data on the number of pre-diagnostic tests were not collected; thus, the analysis assumed only 1 test per patient.” (opens the source at this quote in a new tab)

Testing that guidelines recommend against

“Clinicians should avoid laboratories that measure protoporphyrin only by hematofluorometry, which can lead to falsely normal levels of erythrocyte protoporphyrins, and these results are often incorrectly labeled as “free erythrocyte protoporphyrin” (opens the source at this quote in a new tab)
“In patients with protoporphyria, plasma porphyrin levels may be normal or increased” (opens the source at this quote in a new tab)
“Elevated plasma porphyrins are not diagnostic of EPP and are therefore not recommended as first-line testing” (opens the source at this quote in a new tab)
“Urinary and fecal porphyrins are typically normal in protoporphyria, and testing is not recommended” (opens the source at this quote in a new tab)
“Skin biopsies are not indicated for the diagnosis of protoporphyria” (opens the source at this quote in a new tab)
“Genetic testing in the absence of biochemical testing is not recommended given the possibility of identifying variants of uncertain significance and the small percentage of patients in whom the genetic variant remains undefined” (opens the source at this quote in a new tab)

Specialized laboratory required for confirmatory testing

“In general, the biochemical analyses should be performed in a laboratory acknowledged as a specialized centre for porphyrin diagnostics, such as the laboratories certified by the International Porphyria Network (Ipnet, formerly known as European Porphyria Network; porphyrianet.org.).” (opens the source at this quote in a new tab)

Cost of genetic testing and of misdiagnosis

No evidence found.