Mr. Robert (Bob) E. Ward, Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals, provides an overview of cystinosis, an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.
ELX-02 is being developed for cystic fibrosis and cystinosis patients with diagnosed nonsense mutations on one or both alleles. This product represents a high unmet medical need as there are currently no approved therapeutics targeting the impairment caused by these mutations.