Current Treatment Options for Children with Gaucher Disease Type 2

Aimee Donald, MBChB, PhD, Pediatrician at Royal Manchester Children's Hospital, and Professor at the University of Manchester, discusses the management of patients with Gaucher disease type 2.

Gaucher disease is a rare lysosomal disorder due to reduced levels of glucocerebrosidase that leads to the accumulation of glucocerebroside in cells and certain organs. There are three types of Gaucher disease – type 1, 2, and 3. Gaucher disease type 1 mostly impacts the periphery. Gaucher disease type 2 is the most severe form of the disease and impacts both the periphery and brain. Gaucher disease type 3 is less severe than type 2 but can impact the brain.

As Dr. Donald explains, enzyme replacement therapy (ERT) is the standard of care for both Gaucher disease types 1 and 3, however ERT cannot cross the blood brain barrier to treat neuropathic symptoms of Gaucher type 2. There is currently no treatment for Gaucher disease type 2, so infants with this condition usually pass away within 2–3 years. Management of Gaucher disease type 2 is generally palliative in nature.

Fortunately, PR001, an AAV9-based gene therapy, is currently under development as a potential treatment for Gaucher disease types 1 and 2. Trials evaluating this therapy can be found on Prevail Therapeutics’ website.
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