Experimental Fabry Disease Treatment Gains Orphan Drug Designation

According to a story from Fabry Disease News, the drug developer Avrobio recently announced that the US Food and Drug Administration (FDA) has given the company’s experimental drug AVR-RD-01 Orphan Drug designation. This investigational product is intended to treat Fabry disease. Both Phase 1 and Phase 2 clinica trials of the drug are currently in the recruitment phase.

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

About AVR-RD-01

AVR-RD-01 is an experimental gene therapy which is based on the autologous stem cell transplant approach. In this process, stem cells are removed from a patient, modified to correct the genetic mutation that causes the disease, and then reintroduced into the patient. These cells are then expected to produce healthy, non-mutated cells in the patient. Avrobio is also working on the development of similar therapies for other rare diseases as well.


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