Experimental Fabry Disease Treatment Gets Orphan Drug Designation

According to a story from globenewswire.com, the gene therapy company AVROBIO recently announced that the company’s experimental gene therapy drug candidate AVR-RD-01 has earned Orphan Drug designation from the US Food and Drug Administration (FDA) as a therapy for Fabry disease. The company is dedicated to the development of gene therapies for rare diseases with the potential to cure in a single dose.

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.

About Orphan Drug Designation

Orphan Drug designation is typically reserved for therapies that are intended to treat diseases that are considered rare. This is defined as any disease that affects less than 200,000 people in the US. To qualify, a therapy must display advantages in effectiveness or safety over currently available treatments, or it must satisfy a currently unmet medical need. The designation confers several benefits to the recipient company, such as tax breaks, the waiving of certain fees, and a period of market exclusivity that lasts seven years if the drug gains approval for public use.

About AVR-RD-01

AVR-RD-01 is intended as a gene therapy that must only be taken once. From this single dose, the therapy is intended to benefit patients with Fabry disease for the rest of their lives. The therapy utilizes a lentiviral vector to deliver the genetic material. In order for the gene therapy to work, stem cells are extracted from the patient, modified with copies of the corrected gene, and then reintroduced back into the patient’s body.

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