According to a story from prnewswire.com, the Chiesi Global Rare Diseases and the biopharmaceutical company ProTalix Biotherapeutics have recently announced that they have submitted a Biologics License Application (BLA) for the experimental treatment pegunigalsidase alfa (also known as PRX-102) to the US Food and Drug Administration (FDA). This medication is in development as a treatment for Fabry disease, a rare genetic disorder.
About Fabry Disease
Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.
Accelerated Approval and Promising Results
The application is being submitted under Accelerated Approval protocols, a pathway which will potentially allow for the approval of pegunigalsidase alfa much more quickly. The submission of the BLA follows encouraging results in a phase III clinical trial of the drug; these results were made public earlier this month. You can read more about the results of this study here.
Meeting Patient Need
While there are effective treatment options available for Fabry disease, there is still a major unmet need as these therapies are not effective for all patients living with the illness. Therefore, the approval of this new treatment by the FDA would be a major step forward for the Fabry disease patient community. Hopefully, this investigational treatment will be available for use soon.