The U.S. Patent and Trademark Office has issued a patent related to PR001, Prevail Therapeutics' investigational gene therapy for neuronopathic Gaucher disease. The composition of matter patent grants coverage until Oct. 3, 2038, excluding potential extensions or additional related patent filings. Specifically, it concerns the modified, harmless version of an adeno-associated virus used to deliver the therapy to patients' cells. “We are excited to make important progress this year with PR001,” Asa Abeliovich, MD, PhD, founder and CEO of Prevail, said in a press release. “We are advancing clinical development of PR001 to make a potentially transformative difference for these patients who currently have no approved treatment options.” The GBA1 gene contains the instructions for making the enzyme beta-glucocerebrosidase, needed for the disposal and recycling of large molecules inside cells of multiple organs. People with Gaucher have mutations in GBA1 that result in a defective enzyme and in a toxic buildup of these large molecules. PR001 is designed to deliver a fully working version of the GBA1 gene to nerve cells and restore enzyme production. The potential gene therapy targets patients with neuronopathic Gaucher, which affects the brain and spinal cord, and includes types 2 and 3 disease. As existing enzyme replacement therapy cannot cross the blood-brain barrier and reach the brain, it is ineffective in patients with type 2 Gaucher, although the therapy may help people with the milder type 3 disease. The experimental therapy will be evaluated in the Phase 1/2 PROVIDE trial (NCT04411654) in children with type 2 Gaucher. This study will assess the safety and efficacy of a single dose of PR001 in 15 patients (newborns to age 2), and will be conducted at four sites in the U.S. Enrollment is ongoing at NYU Medical Center. More details on contacts and locations are found here. PR001 will be administered by injection into an area called the cisterna magna above the spinal canal, together with corticosteroids and the anti-organ rejection therapy sirolimus. Patients will be followed for five years, and researchers will look for evidence of the treatment's ability to induce an immune response (immunogenicity) up to year three. The study’s secondary goals include measures of efficacy, such as changes in cognition and motor skills. Prevail expects to have updates on biomarker and safety data in 2021. In addition to Gaucher, the Phase 1/2 PROPEL trial (NCT04127578) is testing PR001 in patients with Parkinson’s disease with GBA1 mutations. Notably, GBA mutations increase the risk of Parkinson’s. The U.S. Food and Drug Administration has granted fast track, orphan drug, and rare pediatric disease designations to PR001 for the treatment of Gaucher disease.