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AVROBIO Receives Orphan Drug Designation from the European Commission for AVR‑RD‑01, an Investigational Gene Therapy for Fabry Disease

CAMBRIDGE, Mass.–()–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 (α-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.


Our vision is to bring personalized gene therapy to the world. We aim to halt, reverse or prevent disease throughout the body with a single dose of gene therapy designed to drive durable expression of functional protein, even in hard-to-reach tissues and organs including the brain, muscle and bone. Our clinical-stage programs include Fabry disease, Gaucher disease and cystinosis and we also are advancing preclinical programs in Hunter syndrome and Pompe disease. AVROBIO is powered by the plato® gene therapy platform, our foundation designed to scale gene therapy worldwide. We are headquartered in Cambridge, Mass., with an office in Toronto, Ontario. For additional information, visit, and follow us on Twitter and LinkedIn.

Forward-Looking Statements

This press release contains forward-looking statements, including statements made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. These statements may be identified by words and phrases such as “aims,” “anticipates,” “believes,” “could,” “designed to,” “estimates,” “expects,” “forecasts,” “goal,” “intends,” “may,” “plans,” “possible,” “potential,” “seeks,” “will,” and variations of these words and phrases or similar expressions that are intended to identify forward-looking statements. These forward-looking statements include, without limitation, statements regarding our business strategy for and the potential therapeutic benefits of our prospective product candidates, including AVR-RD-01 for the treatment of Fabry disease; the anticipated benefits of the European Commission’s grant of orphan drug designation for AVR-RD-01; the design, commencement, enrollment and timing of ongoing or planned clinical trials and regulatory pathways; the timing of patient recruitment and enrollment activities, clinical trial results, and product approvals; the anticipated benefits of our gene therapy platform including the potential impact on our commercialization activities, timing and likelihood of success; the expected benefits and results of our implementation of the plato platform in our clinical trials and gene therapy programs; and the expected safety profile of our investigational gene therapies. Any such statements in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Results in pre-clinical or early-stage clinical trials may not be indicative of results from later stage or larger scale clinical trials and do not ensure regulatory approval. You should not place undue reliance on these statements, or the scientific data presented.

Any forward-looking statements in this press release are based on AVROBIO’s current expectations, estimates and projections about our industry as well as management’s current beliefs and expectations of future events only as of today and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by such forward-looking statements. These risks and uncertainties include, but are not limited to, the risk that any one or more of AVROBIO’s product candidates will not be successfully developed or commercialized; the risk of cessation or delay of any ongoing or planned clinical trials of AVROBIO or our collaborators; the risk that AVROBIO may not successfully recruit or enroll a sufficient number of patients for our clinical trials; the risk that AVROBIO may not realize the intended benefits of our gene therapy platform, including the features of our plato platform; the risk that our product candidates or procedures in connection with the administration thereof will not have the safety or efficacy profile that we anticipate; the risk that prior results, such as signals of safety, activity or durability of effect, observed from pre-clinical or clinical trials, will not be replicated or will not continue in ongoing or future studies or trials involving AVROBIO’s product candidates; the risk that we will be unable to obtain and maintain regulatory approval for our product candidates; the risk that the size and growth potential of the market for our product candidates will not materialize as expected; risks associated with our dependence on third-party suppliers and manufacturers; risks regarding the accuracy of our estimates of expenses and future revenue; risks relating to our capital requirements and needs for additional financing; risks relating to clinical trial and business interruptions resulting from the COVID-19 outbreak or similar public health crises, including that such interruptions may materially delay our development timeline and/or increase our development costs or that data collection efforts may be impaired or otherwise impacted by such crises; and risks relating to our ability to obtain and maintain intellectual property protection for our product candidates. For a discussion of these and other risks and uncertainties, and other important factors, any of which could cause AVROBIO’s actual results to differ materially and adversely from those contained in the forward-looking statements, see the section entitled “Risk Factors” in AVROBIO’s most recent Quarterly Report, as well as discussions of potential risks, uncertainties and other important factors in AVROBIO’s subsequent filings with the Securities and Exchange Commission. AVROBIO explicitly disclaims any obligation to update any forward-looking statements except to the extent required by law.


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