PR001 is an experimental gene therapy for neuronopathic Gaucher disease, primarily type 2 but also type 3 disease. Prevail Therapeutics — recently acquired by Eli Lilly — oversaw initial development of this treatment.

PR001 is given as a one-time intracisternal injection, or an injection directly into the cisterna magna — an area above the spinal canal and below the cerebellum.

How does PR001 work?

Mutations in the GBA1 gene are what cause Gaucher disease. This gene contains the instructions necessary for the production of the beta-glucocerebrosidase enzyme. This enzyme is responsible for the breakdown of molecules called glucocerebrosides. When there are mutations in the GBA1 gene, the beta-glucocerebrosidase enzyme does not work correctly and glucocerebroside builds in the nervous system and other organs, causing damage and leading to the symptoms of Gaucher disease.

PR001 is a gene therapy that aims to deliver a working copy of the GBA1 gene to the cells of the central nervous system (brain and spinal cord) in order to restore beta-glucocerebroside enzyme levels. It uses a harmless adeno-associated virus (AAV) to carry the working copy of the gene into cells.

Preclinical studies in animal models of Gaucher disease showed that PR001 was well-tolerated, and resulted in an increase in the beta-glucocerebrosidase enzyme and a decrease in glucocerebroside molecules in nerve cells, as well as better motor function.

PR001 in clinical trials

Researchers are now investigating PR001 in an open-label Phase 1/2 clinical trial (NCT04411654) called PROVIDE. The study is currently recruiting up to 15 children with type 2 Gaucher disease, ages up to 2 in New York. Locations in California, Minnesota, and Pennsylvania are expected to start recruiting soon. All participants will be given a single intracisternal injection of PR001. Investigators will then monitor the children for about five years. Patients will also receive corticosteroids and sirolimus, a medication to prevent rejections with transplants.

During the first year after injection, investigators will evaluate the safety and tolerability of PR001. They will also assess the efficacy and the effect on immunogenicity (the ability to trigger an immune response) of the treatment, as well as certain biomarkers. Finally, they will monitor safety and neurological outcomes, such as changes in cognitive function and motor development, for about four years. The study is expected to finish in April 2028.

Other information

The U.S. Food and Drug Administration granted PR001 fast track designation in October 2020. The agency also designated it an orphan drug and rare pediatric disease treatment.

Researchers are also investigating PR001 to treat Parkinson’s disease patients who have at least one GBA1 mutation in a Phase 1/2 clinical trial (NCT04127578) called PROPEL.


Last updated: Dec. 21, 2020


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