Testing umbilical cord blood can help identify newborns with undiagnosed erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), two inherited forms of porphyria marked by extreme sensitivity to light, according to a small study from the U.K. While symptoms of these diseases generally emerge at 1 year of age, extremely…
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Disc Medicine has received a Commissioner’s National Priority Voucher from the U.S. Food and Drug Administration (FDA) following its submission of a new drug application seeking accelerated approval of bitopertin, an investigational oral small molecule being developed for the treatment of erythropoietic protoporphyria (EPP) in patients ages…
Nearly 17 years ago, when my son Brady was diagnosed with erythropoietic protoporphyria (EPP), I fell to the floor in a puddle of fear. How would my little boy avoid the sun for the rest of his life? There were no easy answers, and there certainly were no easy…
PORT-77, an oral small molecule therapy being developed to treat erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), by Gondolabio through its affiliate Portal Therapeutics, has been granted both orphan drug and fast track status by the U.S. Food and Drug Administration (FDA). Orphan drug designation supports therapies for rare…
Becoming educated and informed about porphyria is a good first step. Here you’ll find general information about the disease, including the types, diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of some of our columnist’s words of wisdom to help you along on your porphyria journey.
There is no cure for porphyria yet, but there are therapies that can help manage the disease. Here you can find more information about some of the approved treatments for porphyria.
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