Erythropoietic Protoporphyria Overview

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Learn About Erythropoietic Protoporphyria

What is the definition of Erythropoietic Protoporphyria?
Erythropoietic protoporphyria (EPP) is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by pathogenic variants in the FECH gene which lead to an impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen. Inheritance is autosomal recessive.
What are the alternative names for Erythropoietic Protoporphyria?
  • Autosomal erythropoietic protoporphyria
  • EPP
  • Erythrohepatic protoporphyria
  • Ferrochelatase deficiency
  • Heme synthetase deficiency
Who are the top Erythropoietic Protoporphyria Local Doctors?
Elite in Erythropoietic Protoporphyria
Francesca Granata
Elite in Erythropoietic Protoporphyria
Francesca Granata
Milan, IT 

Francesca Granata practices in Milan, Italy. Ms. Granata is rated as an Elite expert by MediFind in the treatment of Erythropoietic Protoporphyria. Her top areas of expertise are Erythropoietic Protoporphyria, Protoporphyria, Porphyria, and Acute Intermittent Porphyria.

Elite in Erythropoietic Protoporphyria
Gayle Ross
Elite in Erythropoietic Protoporphyria
Gayle Ross
Parkville, VIC, AU 

Gayle Ross practices in Parkville, Australia. Ms. Ross is rated as an Elite expert by MediFind in the treatment of Erythropoietic Protoporphyria. Her top areas of expertise are Erythropoietic Protoporphyria, Protoporphyria, Porphyria, and Porphyria Cutanea Tarda.

 
 
 
 
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Elite in Erythropoietic Protoporphyria
Jasmin Barman-Aksozen
Elite in Erythropoietic Protoporphyria
Jasmin Barman-Aksozen
Zurich, ZH, CH 

Jasmin Barman-Aksozen practices in Zurich, Switzerland. Ms. Barman-Aksozen is rated as an Elite expert by MediFind in the treatment of Erythropoietic Protoporphyria. Her top areas of expertise are Porphyria, Erythropoietic Protoporphyria, Protoporphyria, and Acute Hepatic Porphyria (AHP).

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What are the latest Erythropoietic Protoporphyria Clinical Trials?
APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Enrollment Status: Recruiting
Publish Date: September 10, 2025
Intervention Type: Drug
Study Phase: Phase 3

Summary: The goal of this clinical trial is to learn if bitopertin works and is safe to treat EPP or XLP in participants 12 years or older. The main questions it aims to answer are: * Whether bitopertin increases pain-free sunlight exposure after 6 months of treatment in participants with EPP or XLP. * How PPIX concentration levels change from before bitopertin treatment to after 6 months of treatment. Res...

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A Phase 3, Multicenter, Open-label, Long-term, Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
A Phase 3, Multicenter, Open-label, Long-term, Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Who is this study for: Patients with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Enrollment Status: Recruiting
Publish Date: April 22, 2025
Intervention Type: Drug
Study Drug: MT-7117
Study Phase: Phase 3

Summary: To evaluate the long-term safety and tolerability of oral dersimelagon.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center