Congenital Erythropoietic Porphyria
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Congenital Erythropoietic Porphyria Overview

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Learn About Congenital Erythropoietic Porphyria

What is the definition of Congenital Erythropoietic Porphyria?
Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include excessive hair growth throughout the body (hypertrichosis), reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Inheritance is autosomal recessive. It is caused by genetic changes in the UROS gene.
What are the alternative names for Congenital Erythropoietic Porphyria?
  • Congenital erythropoietic porphyria
  • CEP
  • Congenital porphyria
  • Günther disease
  • Porphyria, congenital erythropoietic
  • UROS deficiency
  • Uroporphyrinogen III synthase, deficiency of
Who are the top Congenital Erythropoietic Porphyria Local Doctors?
Elite in Congenital Erythropoietic Porphyria
Cecile Ged
Elite in Congenital Erythropoietic Porphyria
Cecile Ged
Bordeaux, FR 

Cecile Ged practices practicing medicine in Bordeaux, France. Ms. Ged is rated as an Elite expert by MediFind in the treatment of Congenital Erythropoietic Porphyria. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Congenital Erythropoietic Porphyria, Porphyria, Xeroderma Pigmentosum, Pigmented Purpuric Dermatosis, and Bone Marrow Transplant.

Elite in Congenital Erythropoietic Porphyria
Emmanuel Richard
Elite in Congenital Erythropoietic Porphyria
Emmanuel Richard
Bordeaux, FR 

Emmanuel Richard practices practicing medicine in Bordeaux, France. Mr. Richard is rated as an Elite expert by MediFind in the treatment of Congenital Erythropoietic Porphyria. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Congenital Erythropoietic Porphyria, Porphyria, Acute Intermittent Porphyria, and Primary Hyperoxaluria.

 
 
 
 
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Elite in Congenital Erythropoietic Porphyria
Magalie Lalanne
Elite in Congenital Erythropoietic Porphyria
Magalie Lalanne
UMR 1312, 146 Rue Léo Saignat, 
Bordeaux, FR 

Magalie Lalanne practices practicing medicine in Bordeaux, France. Ms. Lalanne is rated as an Elite expert by MediFind in the treatment of Congenital Erythropoietic Porphyria. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Congenital Erythropoietic Porphyria, Porphyria, Primary Hyperoxaluria Type 1, and Primary Hyperoxaluria.

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What are the latest Congenital Erythropoietic Porphyria Clinical Trials?
A Phase I-II, N-of-1, Open-Label, Prospective Study to Evaluate the Efficacy and Safety of ATL-001 in Adult Patients With Congenital Erythropoietic Porphyria (CEP)
A Phase I-II, N-of-1, Open-Label, Prospective Study to Evaluate the Efficacy and Safety of ATL-001 in Adult Patients With Congenital Erythropoietic Porphyria (CEP)
Enrollment Status: Recruiting
Publish Date: March 24, 2026
Intervention Type: Drug
Study Phase: Phase 1/Phase 2

Summary: This is a study to investigate the effect of oral ATL-001 (ciclopirox) in CEP (Congenital Erythropoietic Porphyria) patients. During the study, it will be measured the improvement of skin lesions, fatigue and other clinical symptoms as well as blood parameters. Funding source - FDA OOPD

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Who are the sources who wrote this article ?

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