The treatment was administered following approval by an international regulatory authority.
PR001 uses a modified, harmless version of an adeno-associated virus (AAV9) to deliver a fully working version of the GBA1 gene to nerve cells. Mutations in this gene cause Gaucher disease by producing a defective enzyme called beta-glucocerebrosidase, which leads to the accumulation of fatty molecules inside cells.
In type 2 Gaucher, also called acute infantile neuronopathic Gaucher disease, the toxic fatty molecules build up in the patient’s brain from early infancy, resulting in neurological symptoms.
By restoring production of normal beta-glucocerebrosidase in affected brain cells, a single dose of PR001 is intended to ease Gaucher symptoms and modify the disease course.
Prevail announced earlier this month that it was moving ahead with a Phase 1/2 clinical trial designed to test the gene therapy in people with type 2 Gaucher, with dosing planned to begin in the first half of this year.
The company is planning another Phase 1/2 trial in people with type 3 Gaucher later this year. These patients also experience neurological symptoms, but they are milder and progress more slowly than those seen in people with type 2. Because they typically involve neurological manifestations, types 2 and 3 are also called neuronopathic Gaucher.
PR001’s clinical development stems from preclinical studies in mice and monkeys showing that the therapy was well tolerated, led to the production of a functional enzyme in nerve cells, reduced the accumulation of fatty molecules, and improved motor function.
“Our decision to grant a compassionate use request for this patient and our continued progress toward initiating clinical trials underscore our deep dedication to our mission of treating all eligible patients with neuronopathic Gaucher disease, the most severe form of Gaucher disease,” Asa Abeliovich, MD, PhD, Prevail’s founder and CEO, said in a press release.
“We continue to believe that PR001 has the potential to be a disease-modifying therapy for the treatment of Parkinson’s disease with GBA1 mutation and neuronopathic Gaucher disease, which share the same underlying genetic mechanism,” Abeliovich said.