Pre-Clinical Program Becomes Company’s Third GeneTherapy
for Lysosomal Storage Disorders

Pre-Clinical Proof-of-Concept Demonstrated

Cambridge, MA, September 20, 2017 – AVROBIO, Inc.a clinical-stage biotechnology company developing transformative, life-changing gene therapies for rare diseases, today announced the expansion of its pipeline to Pompe disease. This pre-clinical program becomes AVROBIO’s third gene therapy for Lysosomal Storage Disorders (LSDs), following on the heels of the Company’s Phase 1 Fabry program and pre-Phase 1/2 Gaucher program. AVROBIO’s gene therapy for Pompe disease utilizes a proprietary lysosomal targeting sequence to deliver high levels of enzyme to lysosomes.

“Pompe disease is a serious lysosomal storage disorder with significant unmet need; our gene therapy is designed to deliver therapeutically relevant levels of enzyme to treat these patients,” said Geoff MacKay, AVROBIO’s President and Chief Executive Officer. “By combining our state-of-the-art gene therapy platform with our proprietary lysosomal targeting technology, AVROBIO is advancing a truly novel solution to treat patients with this debilitating disease.”

Pompe disease, also known as glycogen storage disease type II and/or acid maltase deficiency, is a progressive and often fatal neuromuscular disorder affecting 1:40,000 people worldwide. This inherited disorder is caused by a single-gene defect leading to the absence or partial deficiency of the lysosomal enzyme, acid alpha-glucosidase (GAA). The dysfunctional enzyme causes the pathological storage of glycogen in various cells throughout the body. Patients with Pompe disease experience a wide range of clinical symptoms including significant muscle weakness affecting the ability to walk and respiratory insufficiency affecting the ability to breathe. Pompe disease is one of the more common lysosomal storage disorders affecting people of all ages and ethnicities.

The aim of AVROBIO’s investigational gene therapy to treat Pompe disease is to deliver lasting and meaningful benefits for patients. The patient’s peripheral blood stem cells are extracted and genetically modified by adding a new, fully functional copy of the faulty gene. The modified cells are then delivered back into the patient via a one-time infusion. A durable elevation of endogenous enzyme is expected, with the potential to significantly improve patient outcomes and eliminate burdensome and costly lifelong biweekly intravenous infusions of enzyme replacement therapy.

About AVROBIO, Inc.

AVROBIO, Inc., a leader in lentiviral-based gene therapies, is a clinical-stage company developing disruptive therapies that have the potential to transform patients’ lives with a single dose. The Company is focused on the development of its Phase 1 program in Fabry disease and pre-Phase 1/2 program in Gaucher disease, while actively building a pipeline of therapies to treat Pompe disease and other rare and non-rare genetic diseases. AVROBIO also has an immuno-oncology gene therapy program. AVROBIO is headquartered in Cambridge, MA and has offices in Toronto, ON. For additional information, visit

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Tagged: gene therapy, preclinical