In addition to our clinical programs, we have the ability to leverage our biologics capabilities and platform technologies to further expand our pipeline.
Lysosomal Storage Disorders
Our biologics capabilities may provide a unique tool set to develop Enzyme Replacement Therapy (ERT) products for LSDs. In addition to our current novel ERTs for Fabry and Pompe disease, we believe that these technology platforms may create future opportunities for novel ERT development for other LSDs.
We are currently researching a potential first-in-class protein replacement therapy approach for CDKL5 deficiency in preclinical studies. CDKL5 (cyclin-dependent kinase-like 5) is a gene on the X-chromosome encoding the CDKL5 protein that regulates the expression of several essential proteins for normal brain development. Genetic mutations in the CDKL5 gene result in CDKL5 protein deficiency and the disorder manifests clinically as persistent seizures starting in infancy, followed by severe impairment in neurological development. Most children affected by CDKL5 deficiency cannot walk or care for themselves and may also suffer from scoliosis, visual impairment, sensory issues, and gastrointestinal complications.