Gene Therapies In Rare Disease: From R&D To Regulatory Approval

Advancements in science and technology have helped researchers develop new treatments for some of the most common diseases known to man. Diseases that were once considered death sentences are now chronic conditions, and some can even be cured.

For rare diseases, however, patients have limited treatment options. Out of the more than 7,000 known rare diseases, less than five percent have a US Food and Drug Administration (FDA)- approved therapy on the market. Unique research, clinical and regulatory challenges slow the drug development pipeline, leaving millions of rare disease patients with grim prognoses. Here, advanced therapies have the potential for the greatest impact.

Gene therapies aim to correct or replace dysfunctional genes that are the cause of many diseases. Approximately 85 percent of rare diseases are caused by a genetic mutation, making them ideal targets for gene therapy. Key to bringing gene therapies to market is a comprehensive understanding of clinical trial design and execution, and the regulatory landscape surrounding rare diseases.