Benzinga | Oct 29, 2020 07:26AM EDT

AVROBIO Receives Orphan Drug Designation from the European Commission for AVRRD01, an Investigational Gene Therapy for Fabry Disease

AVROBIO, Inc. (NASDAQ:AVRO), a leading clinical-stage gene therapy company with a mission to free people from a lifetime of genetic disease, today announced that the European Commission (EC) has granted orphan drug designation for AVR-RD-01, the company's investigational gene therapy for the treatment of Fabry disease. AVR-RD-01, an ex-vivo, lentiviral gene therapy, consists of the patient's own hematopoietic stem cells, genetically modified to express alpha-galactosidase A (?-Gal A), the enzyme that is deficient in patients with Fabry disease.

"People living with Fabry disease typically experience progression despite chronic treatment, and available therapies cannot halt disease or address neurological symptoms such as cognitive decline and increased risk for cerebrovascular complications," said Geoff MacKay, president and CEO of AVROBIO. "Our investigational gene therapy is designed to mimic the body's natural ability to produce alpha-galactosidase A enzymes and to reach all organs, including the brain. We are delighted to receive this orphan drug designation and look forward to advancing our investigational gene therapy for people living with Fabry disease."

The EC grants orphan drug designation to drugs and biologics intended for the safe and effective treatment, diagnosis or prevention of rare diseases or conditions that impact fewer than five in 10,000 patients in the European Union. Orphan drug designation gives companies certain benefits, including reduced regulatory fees, clinical protocol assistance, research grants and 10 years of market exclusivity following regulatory approval.

AVR-RD-01 has also received orphan drug designation in the U.S. from the Food and Drug Administration. AVROBIO is currently evaluating AVR-RD-01 in FAB-201 (NCT03454893), a Phase 2 clinical trial.

About Fabry Disease

Fabry disease is a rare, inherited lysosomal storage disorder characterized by the toxic accumulation of globotriaosylceramide (Gb3 or GL3) in body's cells. The build-up of Gb3 is due to a variation in the GLA gene, which is responsible for the production of alpha-galactosidase A, the enzyme that breaks down Gb3. When Gb3 accumulates in cells and tissues, damage can occur and result in the progressive signs and symptoms of Fabry disease, including chronic pain, gastrointestinal issues such as nausea, vomiting and diarrhea, hearing loss, heart disease, progressive kidney disease and an increased risk of stroke. Even on enzyme replacement therapy (ERT) -- the current standard of care -- people with Fabry disease typically have a shortened life expectancy and may experience debilitating symptoms that significantly reduce their quality of life. An estimated one in 40,000 to 60,000 males are diagnosed with Fabry disease. Fabry disease also affects females, although the prevalence is unknown.

About lentiviral gene therapy

Lentiviral vectors are differentiated from other delivery mechanisms because of their large cargo capacity and their ability to integrate the therapeutic gene directly into the patient's chromosomes. This integration is designed to maintain the therapeutic gene's presence as the patient's cells divide, which potentially enables dosing of pediatric patients, whose cells divide rapidly as they grow. Because the therapeutic gene is integrated into the patients' own stem cells, patients are not excluded from receiving the investigational therapy due to pre-existing antibodies to the vector.