An Experimental Gene Therapy for Gaucher Disease has Earned Orphan Drug Designation

According to a story from, the gene therapy company Avrobio has recently announced that the US Food and Drug Administration (FDA) has granted Orphan Drug designation to AVR-RD-02, an experimental gene therapy candidate being developed by the company as a treatment for Gaucher disease, a rare disorder. This gene therapy is being designed as a single-administration treatment that will ideally provide lifelong benefits to the patient.

About Gaucher Disease

Gaucher disease is a genetic disorder which is most characterized by the abnormal buildup of the substance glucocerebroside in different areas of the body. This buildup can lead to a variety of symptoms. The disease is caused by a genetic abnormality affecting the GBA gene, which is responsible for the normal function of the enzyme that normally breaks down glucocerebroside. Symptoms of Gaucher disease include enlarged spleen and liver, discolored skin, anemia, increased risk of infection and bleeding, osteoporosis, reduce sense of smell, impaired cognition, severe joint and bone pain, muscle twitches, dementia or intellectual disability, apnea, and convulsions. Neurological symptoms vary depending on the type of disease present. Gaucher disease patients are also more likely to have Parkinson’s disease. Therapies for Gaucher include enzyme replacement therapy, Miglustat, and Eliglustat. To learn more about Gaucher disease, click here.

About Orphan Drug Designation

Orphan Drug designation is typically reserved for treatments that are being developed for diseases that are considered rare. This is defined as any disease that impacts less than 200,000 people in the US. To qualify for this status, an experimental drug must either fulfill a currently unmet medical need or display advantages in effectiveness and/or safety when compared to currently available treatments. This 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 for the drug if it is officially approved.

Although there are therapies available for Gaucher disease, the fact remains that they must be taken indefinitely and do not resolve all disease symptoms. The successful development of a gene therapy such as AVR-RD-02 would signify as substantial breakthrough in the treatment of this rare disease. A phase 1/2 trial testing the therapy is currently enrolling patients. 

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