There have already been several preclinical studies where a healthy gene was delivered via virus carrier to AGU mice to replace a mutated AGA enzymeA protein responsible for speeding the rate of chemical reaction in the cell of the living organism. Enzymes support a wide range of functions in an organism, as they spark chemical reactions. Enzymes work with, or interact with, substrates (the underlying surface or substance). When reacted together, the enzyme and substrate result in a new product or molecule that then separates from the original enzyme and goes on to create new reactions in the cell.. In all cases, the transfer of the healthy AGA gene was successful in producing an enzyme that decreased toxic buildup, indicating that gene therapy in humans may work. Researchers will move into primate research next.

Although this treatment is many years away – it will need to be studied in human clinical trialsA study conducted in humans that evaluates the effectiveness, safety, and side effects of investigational products (which could include medications, treatments, and devices) that have the possibility of treating a disease in that particular patient group. and approved by the FDA – it is likely that gene therapy for AGU would be a one-time injection.

Sources:
Banning, A. et al. Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria. Sci. Rep. 6, 37583; doi: 10.1038/srep37583 (2016)

Virta, S. , Rapola, J. , Jalanko, A. and Laine, M. (2006), Use of nonviral promoters in adenovirus‐mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse. J. Gene Med., 8: 699-706. doi:10.1002/jgm.892

Steven James Gray, Gene therapy and neurodevelopmental disorders, Neuropharmacology, Volume 68, 2013, Pages 136-142, ISSN 0028-3908