Orphan Drug for an ultra-rare disease

  • New drug Ciclopirox developed in partnership between CIC bioGUNE and the venture capital firm CRB Inverbio
  • The drug treats congenital erythropoietic porphyria, an ultra-rare disease affecting 1 person out of every 1000000
  • Ciclopirox has been approved in the US, as well as in Europe

About Congenital Erythropoietic Porphyria:

Congenital erythropoietic porphyria (CEP), also known as Gunther disease, is an extremely rare inherited metabolic disorder affecting around 1 person in 1000000, according to the American Porphyria Foundation. Its symptoms often include severe cutaneous sensititivity, red coloration of the bones and teeth (erythrodontia), and a risk of deformities due to aggravated skin lesions.

The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, bone loss, and the appearance of deformities due to aggravated or badly healed skin lesions. Porphyria patients require to undergo relevant habit adjustments, under which perhaps sunlight avoidance is one of the most frequent. Previously available treatments only relieved the symptomatology and no curative therapy was available for the disease.

This effect results from the deficient function of a protein called uroporphyrinogen lll cosynthase (UROS). This protein is the fourth enzyme in the biosynthetic pathway of heme, which is a molecular component of haemoglobin. The impaired function of this enzyme, results in the accumulation of excessive amounts of porphyrins, particularly in the bone marrow, plasma, red blood cells, urine, teeth, and bones.

Technology and investment leading to a new treatment:

Atlas Molecular Pharma  announced on April 2018 that the US Food & Drug Administration (FDA) granted the designation as Orphan-Drug of Ciclopirox (AMP-L2.7.D7) for the treatment of Congenital Erythropoietic Porphyria.  This recognition occurred only a few months after the European Medicines Agency (EMA) and the European Commission also approved Ciclopirox as Orphan Medicinal Product for the treatment of this disease.

“The favourable report from the European Medicines Agency and the approval of Ciclopirox as an orphan drug by the European Commission and the FDA are very important steps in the development of Ciclopirox for the treatment of Congenital Erythropoietic Porphyria.  ATLAS is currently securing appropriate funding for the clinical trials that demonstrate the benefit of ciclopirox in the treatment of this devastating disease. The new OMP and ODD status will facilitate the process and ultimately contribute to our goal of delivering Ciclopirox to patients suffering from Congenital Erythropoietic Porphyria at the earliest time possible”, said Dr. Emilio Díez, CEO and CSO of Atlas Molecular Pharma.

Dr. Oscar Millet, Director of the Laboratory of Protein Stability and Inherited Disease of the CIC bioGUNE, said that “understanding the molecular mechanism of this disease has enabled us to design a therapy based on pharmacological chaperones, molecules that bind to the defective protein fixing its stability problem and reversing its pathogenic effects”.

The EMA´s Orphan Medicinal Product program and the US FDA Orphan Drug designation provides orphan status to drugs and biologics that are being developed to address rare diseases or disorders that affect a very small percentage of the population. With the recognition in Europe and in the US of Ciclopirox as an orphan drug, Atlas will qualify for various incentives that will facilitate the launching of clinical trials on patients in the near future. These incentives include scientific advice and high-quality clinical trial protocol assistance, leading to effective and acceptably safe medicines for the benefit of patients.

This is the first time that an orphan drug has been approved by the European Commission and the US Food & Drug Administration in the Basque Country.

About ATLAS Molecular Pharma:

Atlas Molecular Pharma was founded in Derio (Spain)  in September 2015 by the Centre for Co-operative Research in Biosciences (CIC bioGUNE) and the Venture Capital firm CRB Inverbio. Atlas Molecular Pharma is currently supported by an experienced group of life science investors, including Kereon Partners, Carlos Simón (Igenomix) and CRB Inverbio, in addition to CIC bioGUNE.

The Atlas business model is to discover first-in-class, innovative therapeutics for the treatment of Rare and Ultra-Rare Diseases and license them to larger partners who will deliver them to market for the patients that need them.

Atlas Molecular Pharma has a proprietary technological platform approach (CHASSYS™) that is being used as a “drug discovery engine” to deliver a class of therapeutics named “pharmacological chaperones”  for the treatment of a range of Rare and ultra-Rare Diseases.

Image credits:

Person at dusk is in the public domain and was downloaded from Pxhere.