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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?
Experienced in Erythropoietic Protoporphyria
Experienced in Erythropoietic Protoporphyria

Henry Ford Health System

3031 W Grand Blvd, 
Detroit, MI 
 (21.7 mi)
Languages Spoken:
English
Accepting New Patients

Tasneem Mohammad is a Dermatologist in Detroit, Michigan. Dr. Mohammad and is rated as an Experienced provider by MediFind in the treatment of Erythropoietic Protoporphyria. Her top areas of expertise are Melasma, Hypomelanotic Disorder, Vitiligo, and Hidradenitis Suppurativa. Dr. Mohammad is currently accepting new patients.

Experienced in Erythropoietic Protoporphyria
Experienced in Erythropoietic Protoporphyria

Henry Ford Health System

2799 W Grand Blvd, 
Detroit, MI 
 (22.1 mi)
Languages Spoken:
English, Urdu
Accepting New Patients

Iltefat Hamzavi is a Dermatologist in Detroit, Michigan. Dr. Hamzavi and is rated as an Experienced provider by MediFind in the treatment of Erythropoietic Protoporphyria. His top areas of expertise are Hidradenitis Suppurativa, Vitiligo, Hypomelanotic Disorder, and Acne. Dr. Hamzavi is currently accepting new patients.

 
 
 
 
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What are the latest Erythropoietic Protoporphyria Clinical Trials?
A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Adults and Adolescents With Erythropoietic Protoporphyria or X-Linked Protoporphyria

Summary: To investigate the efficacy of MT-7117 on time to onset and severity of first prodromal symptoms (burning, tingling, itching, or stinging) associated with sunlight exposure in adults and adolescents with EPP or XLP.

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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)

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