There have already been several preclinical studies where a healthy gene was delivered via virus carrier to AGU mice to replace a mutated AGA enzyme. 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 trials and approved by the FDA – it is likely that gene therapy for AGU would be a one-time injection.
Banning, A. et al. Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of A rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance, and shortened lifespan. There are currently no available treatments for AGU.. 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