At Atlas Molecular Pharma we are “patient-centric” and strongly believe that the key aspect of delivering an effective treatment requires input and support from patients and their families suffering from Rare and Ultra-Rare Diseases.
Our most advanced project is targeting Congential Erythropoietic Porphyria, but we are also in the process of assessing other Rare and Ultra-Rare Diseases for which we believe we can discover a treatment.
Proprietary Platform Technology
Atlas Molecular Pharma is further developing and exploiting its platform technology CHASSYS™ which was originally developed by scientists at CIC bioGUNE.
CHASSYS™ combines the integration of a range of experimental methodologies with bespoke software providing a novel, powerful and synergistic “drug discovery engine” approach to identifying multiple new potential pharmacological chaperones (new chemical entities and repurposed drugs) for the numerous Rare and Ultra-Rare diseases characterised by defective enzyme function.
Congenital Erythropoietic Porphyria (CEP): Our lead project targets the autosomal recessive deficiency in the uroporphyrinogen III synthase (UROIIIS) enzyme in the haeme group biosynthetic pathway. To date, 28 mis-sense mutations producing CEP have been reported in the literature, a vast majority of which result in an increase in the kinetic aggregation rate of UROIIIS. Deficiency in UROIIIS leads to a build-up in the body of porphyrins in high concentration (e.g., in bone, the bone marrow, red blood cells, plasma, urine, faeces, teeth and skin) which are damaging to tissues resulting in a range of significant symptoms for patients. This project is currently at the lead identification/optimisation phase.
Prion Disease: Prion disease (e.g., Creutzfeldt-Jakob disease) results from the progressive accumulation of an abnormal form of the naturally occurring cellular prion protein leading to subsequent adverse effects on brain function and ultimately death. This project is at the hit identification phase of discovery.
Tyrosianemia: Mutations in the fumarylacetoacetate hydrolase FAH gene cause human tyrosianemia, an inborn error of metabolism characterized by accumulation of multiple abnormal compounds in both the blood and urine: tyrosine, methionine, tyrosine metabolites and succinylacetone. This project is at the hit validation of therapeutic chaperones.
Other diseases: We are currently assessing a range of other diseases to initiate further projects which will benefit from a pharmacological chaperone therapeutic.