Avrobio Expands Rare Disease Pipeline with Gene Therapy to Treat Cystinosis

October 4, 2017

Rare Daily Staff

Avrobio said today that it has expanded its pipeline with the addition of a program it licensed from GenStem Therapeutics as a potential gene therapy for cystinosis, the fourth gene therapy for lysosomal storage disorders it is pursuing.

Avrobio did not disclose terms of the licensing agreement.

The company said it expects to file an application with the U.S. Food and Drug Administration later this year and anticipates entering the clinic in early 2018.

Cystinosis, like all lysosomal storage disorders, is a progressive and potentially fatal metabolic disorder with an estimated incidence of 1 in 100,000 to 200,000 live births. Cystinosis is caused by a single-gene defect in the CTNS gene leading to the accumulation of an amino acid called cystine in all tissues and organs of the body including the kidneys, eyes, muscles, thyroid, and pancreas.

Patients with cystinosis have a wide range of symptoms depending on the age of onset and disease severity including renal Fanconi syndrome and renal failure by adolescence, sensitivity to light, blindness, severe muscle weakness, difficulty swallowing, and endocrinopathies including hypothyroidism and diabetes, and neurological defects.

Avrobio’s experimental gene therapy to treat cystinosis begins with the extraction of patient’s peripheral blood stem cells. It genetically modifies these cells by adding a new, fully functional copy of the faulty gene. The modified cells are delivered back into the patient through a one-time infusion. They are expected to enable durable gene rescue of the progressive tissue injury, with the potential to significantly improve patient outcomes and eliminate lifelong cysteamine treatments.

October 4, 2017

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