Aimee Donald, MBChB, PhD, Pediatrician at Royal Manchester Children’s Hospital, and Professor at the University of Manchester, discusses the PROCEED and PROVIDE gene therapy trials testing PR001 in Gaucher disease patients.

Gaucher disease arises from insufficient levels of glucocerebrosidase, causing glucocerebroside buildup in specific organs and cells. This condition is a rare lysosomal disorder. There are three types of Gaucher disease – type 1, 2, and 3. Gaucher disease type 1 mostly impacts the periphery, type 2 impacts both the periphery and brain, and is the most severe type of disease. Gaucher disease type 3 is less severe than type 2 but can impact the brain. The symptoms of Gaucher disease type 1 and type 3 can include enlargement of the liver and spleen, anemia, thrombocytopenia (low platelet count), bone pain and fractures.  Persons with Gaucher disease type 3 may also show cognitive impairment, eye problems, seizures, and/or a loss of coordination.

Enzyme replacement therapy (ERT) is the standard of care for both Gaucher disease types 1 and 3, however that treatment is painful and time-consuming. Additionally, ERT cannot cross the blood brain barrier to treat neuropathic symptoms of Gaucher type 2. 

As Dr. Donald explains, PR001 is an AAV9-based gene therapy being developed as a potential cure for patients with Parkinson’s disease with GBA1 mutations as well as Gaucher disease types 1 and 2.

In the PROCEED clinical trial, PR001 will be administered as a slow, single-dose IV infusion to treat the peripheral manifestations of Gaucher disease type 1. PROCEED is a phase 1/2, open-label, dose-finding trial.

In the PROVIDE clinical trial, PR001 will be administered by a one-time intra-cisterna magna injection to treat the neurodegenerative manifestations of Gaucher disease type 2. PROVIDE is a phase 1/2, open-label, single-dose trial.

Both trials are now recruiting. For more information, visit here.

To learn more about Gaucher disease and other genetic disorders, go to checkrare.com/diseases/congenital-and-genetic-conditions/