New Medicines

Gaucher's disease, type II


New molecular entity
Prevail Therapeutics
Prevail Therapeutics

Development and Regulatory status

Phase II Clinical Trials
Phase II Clinical Trials
Oct 20FDA grants fast track status to PR 001 for the treatment of neuronopathic Gaucher disease [3].
Feb 20FDA grants orphan drug designation and rare pediatric disease designation to PR 001 for the treatment of Gaucher Disease [3].


A single dose in vivo gene therapy that uses an adeno-associated (AAV9) viral vector to deliver the GBA1 gene to the patients cells. The GBA1 gene encodes the enzyme beta-glucocerebrosidase (GCase), which disposes and recycles glycolipids, preventing its toxic accumulation.
Gauchers disease is the most common lysosomal storage disease and is caused by insufficient activity of the lysosomal enzyme acid beta-glucosidase (glucocerebrosidase), leading to the deposition of glucocerebroside in cells of the macrophage-monocyte system. Type 2 (rare) - the infantile form (acute neuronopathic) - causes rapidly progressive neurovisceral storage disease and death during infancy. Neuronopathic forms (types 2 and 3) have an estimated incidence <1 in 100,000 live births [1].
Gaucher's disease, type II

Trial or other data

Jun 21PI/II PROVIDE trial to evaluate the safety and efficacy of single-dose PR001 (also known as LY3884961) in infants diagnosed with type 2 Gaucher disease (GD2) starts (NCT04411654; PRV-GD2-101). The open-label trial intends to enrol 15 patients aged up to 24 months in the US and at the Manchester Centre for Genomic Medicine at St Marys Hospital. During the first 12 months after dosing, patients will be evaluated for the effects of PR001 on safety, tolerability, immunogenicity, biomarkers, and efficacy. Patients will be followed up for an additional 4 years to monitor safety and changes on selected biomarkers and clinical outcomes. Collection of primary outcome data is due to complete Sep 28 [2].