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Erythropoietic Protoporphyria (EPP)

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder. Our company is committed to developing cutting-edge diagnostics and therapeutics for the management of EPP. As your reliable partner in EPP research, we offer streamlined and comprehensive solutions to meet all your scientific research requirements.

Overview of Erythropoietic Protoporphyria

Erythropoietic Protoporphyria (EPP) is a rare inherited metabolic disorder characterized by an impaired heme synthesis pathway, specifically affecting the enzyme ferrochelatase. This deficiency leads to the accumulation of protoporphyrin in the body, primarily in the red blood cells, plasma, and tissues. EPP is a member of the porphyria group of diseases, with a prevalence ranging from 1 in 75,000 to 1 in 200,000.

The pathological mechanism of erythropoietic protoporphyria (EPP) and the therapeutic effect of glycine transporter inhibitor.Fig. 1 Pathological mechanism of erythropoietic protoporphyria. (Halloy, François, et al., 2021)

Pathogenesis of Erythropoietic Protoporphyria

The pathogenesis of erythropoietic protoporphyria revolves around the impaired activity of the ferrochelatase enzyme, which catalyzes the insertion of iron into protoporphyrin to form heme. Mutations in the ferrochelatase gene (FECH) are responsible for the reduced enzymatic activity, leading to the accumulation of protoporphyrin in various tissues and causing a range of symptoms.

  • Photosensitivity
    When protoporphyrin is exposed to ultraviolet (UV) light, it undergoes a photochemical reaction that generates reactive oxygen species (ROS). These ROS cause damage to surrounding tissues, resulting in the characteristic cutaneous manifestations observed in erythropoietic protoporphyria.
  • Hepatic Involvement
    In some cases, the excess protoporphyrin can accumulate in the liver, leading to hepatobiliary complications. Protoporphyrin can accumulate in liver cells, leading to liver cell damage and cholestasis. Affected people may experience symptoms such as abdominal pain, hepatomegaly, and jaundice.

Types of Erythropoietic Protoporphyria Therapy

Small Molecule Therapy

Small molecule drugs can target specific enzymes or pathways involved in heme synthesis, protoporphyrin metabolism, or photoprotection. By modulating these targets, small molecule drugs have the potential to reduce protoporphyrin accumulation and relieve symptoms of erythropoietic protoporphyria.

Gene Therapy

Gene therapy holds promise for the therapeutics of genetic disorders like erythropoietic protoporphyria. Gene therapy aims to deliver functional copies of the mutated ferrochelatase gene to the affected cells. This approach can restore the normal function of the enzyme and reduce the accumulation of protoporphyrin.


Phototherapy uses targeted light wavelengths to alter the chemical properties of protoporphyrin and mitigate its toxicity. Techniques like narrowband UVB phototherapy and UVA1 phototherapy have demonstrated positive outcomes in treating the cutaneous manifestations of erythropoietic protoporphyria.

Our Services

As a frontrunner in the field of biological research and CRO services, our company is dedicated to offering holistic solutions for the diagnostics development and therapy research of erythropoietic protoporphyria. Through collaborations with industry experts, we have established all-encompassing platforms for rare diseases to facilitate erythropoietic protoporphyria therapy development.

Platforms of Erythropoietic Protoporphyria Therapy Development

Recognizing the significance of dependable animal models in erythropoietic protoporphyria disease research, our company is committed to offering animal model development services that facilitate preclinical research and aid in drug discovery endeavors.

Animal Models of Erythropoietic Protoporphyria

Chemical Induction Models
Erythropoietic protoporphyria (EPP) animal models can be induced chemically. Administration of substances that disrupt heme synthesis or protoporphyrin metabolism may cause EPP-like symptoms in animals. This approach allows for studying acute porphyria attacks and evaluating potential therapeutic interventions.
Genetically Engineered Models
Our company excels in the development of genetic engineering models for erythropoietic protoporphyria (EPP). Our scientists utilize transgenic technology to introduce targeted genetic alterations into the animal's genome, accurately mimicking the genetic mutations found in individuals with EPP. Furthermore, we employ precise gene editing technologies like CRISPR/Cas9 to modify the animal's genome, faithfully reproducing the EPP phenotype in our animal models.
Optional Models
  • FECH Transgenic Model
  • ALAS2 Mutation Model
  • ABCB6 Mutation Model
  • HMOX1 Mutation Model
  • Urosmut248 Knock-in Model
Optional Species Mice, Zebrafish, Pigs, Sheep, Others

With complete animal species resources, we can meet your diversified preclinical research including drug safety evaluation and pharmacokinetic analysis. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.


  • Halloy, François, et al. "Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria." Cell Chemical Biology 28.8 (2021): 1221-1234.
  • Dickey, Amy K., et al. "Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria." Journal of the American Academy of Dermatology (2022).

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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