Lysosomal storage disorders (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function. New lysosomal storage disorders continue to be identified every day. They are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. While clinical trials are in progress on possible treatments for some of these disorders, there is currently no approved treatment for many of them, which is why we are dedicating our efforts to three different lysosomal storage disorders: Fabry disease, alpha-mannosidosis, and nephropathic cystinosis.1,2
Beta thalassemia and sickle cell disease are two disorders that affect red blood cells.
Both conditions cause problems with hemoglobin, depriving many parts of the body of oxygen.
Both conditions can also lead to serious complications, and, furthermore, both conditions are without a cure.1-4
We believe that patients with beta thalassemia or sickle cell disease are in serious need of more clinically impactful solutions, which is why our business unit has committed our efforts and resources to do more for these patients.
Leber’s Hereditary Optic Neuropathy (LHON) is a rare ophthalmologic condition caused by mutations in mitochondrial DNA.1 Of the mitochondrial DNA disorders, LHON is the most common.2 Adults with this condition develop permanent subacute central vision loss in both eyes, which has a devastating impact on the quality of life of patients.1,2 Currently, there is no cure for LHON, which is why we are dedicating our efforts to develop new products for these patients.2 In addition to helping patients with LHON, we are also exploring other opportunities to help patients with a variety of other rare ophthalmologic conditions.