Various types of studies, including gene therapy, stem cell therapy, enzyme replacement therapy, and chaperone small molecules have been extensively investigated. However, the complicated genetics of the disease, lack of efficacy of drug candidates, and regulatory hurdles resulting from safety concerns limit their applications to patients at this time.
Moreover, because the disease progression is rapid and often misdiagnosed, the disease has generally significantly progressed at the time of diagnosis and initiation of treatment. In particular, the invasive method of administration of certain treatments (such as enzyme replacement therapy and viral gene delivery) to young pediatric patients reduces the interest of patient families in trying such treatments.
Our patient-friendly, oral therapeutics have shown efficacy in an animal disease model, and may provide patients with a non-invasive treatment option.
Our patient-friendly, oral small-molecule therapeutics which have shown efficacy in an animal disease model may provide patients with a noninvasive treatment option that can be taken either alone or in combination with other possible treatments. Furthermore, because we are using a drug repurposing strategy capable of saving development time significantly that also provides a safety history, we will be able to bring safe therapeutic interventions to patients quickly.