The phase 1 clinical trial to test the new drug in humans was authorized and will begin soon in the United States
Congenital Erythropoietic Porphyria is an ultra-rare, severe, and highly debilitating pathology with no therapeutic options in the market nor in development until now. The disease affects less than one person per million inhabitants and is caused by deficient activity of the Uroporphyrinogen III synthase, an enzyme that participates in the biosynthetic pathway of the heme group, leading to a reduction of the half-life of red blood cells (anemia) and an extreme photosensitivity, blistering and increased susceptibility to bacterial infections of the skin. These symptoms can manifest during childhood, or in less severe forms, during adulthood. Treatments available until now only ease these symptoms, with no effective curative therapy in the market.
Atlas Molecular Pharma (ATLAS), a spin-off company from CIC bioGUNE – a member of the BRTA–, funded with the aim of developing new pharmacological chaperones for the treatment of rare metabolic disorders, including Congenital Erythropoietic Porphyria, carried out biochemical and biophysical experiments on thousands of compounds leading to the identification of ciclopirox as a drug candidate that is active against this disease.
This research, led by Dr. Óscar Millet’s group in collaboration with Dr. Joaquín Castilla’s research group, has brought hope to patients and their relatives. Ciclopirox being a repurposed drug, meaning that it has been previously applied to the treatment of other diseases, was already approved as a therapeutic molecule by the regulatory agencies, facilitating the complex development process of the drug from the laboratory to the market and the evaluation of its efficacy to treat Congenital Erythropoietic Porphyria.
Óscar Millet, CEO of ATLAS, firmly believes that the drug in development by ATLAS will be able to affect disease progression, tackling its underlying cause: “Congenital Erythropoietic Porphyria is a very rare disease, but it is also extremely debilitating and in need of a curative treatment”.
Along this line, Joaquín Castilla explains that: “besides the potential direct benefit for the patients with Congenital Erythropoietic Porphyria, the pipeline developed by ATLAS for the discovery of a treatment for this disease, will be easily translatable to other rare diseases”.
A cure for Congenital Erythropoietic Porphyria is, therefore, closer every day.