Erythropoietic Protoporphyria
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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
Elite in Erythropoietic Protoporphyria
Referral may be required
Milan, IT 

Francesca Granata practices practicing medicine in Milan, Italy. Ms. Granata is rated as an Elite expert by MediFind in the treatment of Erythropoietic Protoporphyria. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Erythropoietic Protoporphyria, Protoporphyria, Porphyria, and Acute Intermittent Porphyria.

Elite in Erythropoietic Protoporphyria
Elite in Erythropoietic Protoporphyria
Referral may be required
Melbourne, VIC, AU 

Gayle Ross practices practicing medicine in Melbourne, Australia. Ms. Ross is rated as an Elite expert by MediFind in the treatment of Erythropoietic Protoporphyria. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Erythropoietic Protoporphyria, Protoporphyria, Porphyria, Acute Hepatic Porphyria (AHP), and Intrauterine Device Insertion.

 
 
 
 
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Elite in Erythropoietic Protoporphyria
Elite in Erythropoietic Protoporphyria
Referral may be required
Zurich, ZH, CH 

Jasmin Barman-Aksozen practices practicing medicine in Zurich, Switzerland. Ms. Barman-Aksozen is rated as an Elite expert by MediFind in the treatment of Erythropoietic Protoporphyria. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Porphyria, Protoporphyria, Erythropoietic Protoporphyria, and Acute Hepatic Porphyria (AHP).

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What are the latest Erythropoietic Protoporphyria Clinical Trials?
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: August 11, 2026
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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Longitudinal Study of the Porphyrias
Longitudinal Study of the Porphyrias
Enrollment Status: Recruiting
Publish Date: May 15, 2026

Summary: The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.

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