The pediatrician from Royal Manchester Children’s Hospital discussed how further research in Gaucher disease can benefit the field of rare lysosomal diseases as a whole.
“As a clinician working in lysosomal storage disorders or in rare disease, and particularly when we're talking about infants presenting, the big challenge is getting the diagnosis and getting that quickly. And, for all of these clinical trials, getting in early enough... It's one of the biggest barriers we have to accelerating through a clinical trial is being able to identify the most appropriate patients. That's a real challenge across clinical management but also within a clinical trial setting as well.”
The phase 1/2 PROVIDE clinical trial (NCT04411654) is evaluating PR001, (Prevail Therapeutics), a potentially disease-modifying gene therapy for the potential treatment of infants with type 2 Gaucher disease (GD2), also known as neuronopathic GD. Administered via intracisternal magna injection, PR001 is a 1-time, adeno-associated virus (AAV9) gene therapy.
The multicenter, open-label study initiated dosing in 2020 and is continuing to enroll up to its target enrollment of 15 participants with a primary completion date of September 2028. In GD, mutations in the GBA1 gene disrupt the production of beta-glucocerebrosidase and therefore the metabolism of glycolipids, which aggregate α-Synuclein and lead to inflammation and neurodegeneration. PR001 aims to address these mutations by delivering a corrected version of GBA1.
CGTLive spoke with Aimee Donald, MBChB, PhD, pediatrician, Royal Manchester Children’s Hospital, and professor, University of Manchester, to learn more about the progress of gene therapy in GD and lysosomal storage diseases as a whole. She discussed research that remains to be done and how important factors like early diagnosis could be improved.