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Scientific result | Genetic diseases | Pharmacology
Two teams from JOLIOT (SPI / SCBM), in collaboration with the University of Cincinnati, confirm the interest of a drug candidate to treat the congenital creatine deficiency syndrome, a rare neurological childhood disease, responsible for developmental delays and intellectual disability. The results obtained in an animal model of the disease show that it is possible to administer, nasally, dodecyl creatine ester-loaded microspheres, thus improving the cognitive functions of treated animals.
Creatine transporter (CrT) deficiency is an X-linked intellectual disability caused by mutations of CrT. Aim:This work focus on the preclinical development of a new therapeutic approach based on a microemulsion (ME) as drug delivery system for dodecyl creatine ester (DCE). Materials & methods: DCE-ME was prepared by titration method. Novel object recognition (NOR) tests were performed before and after DCE-ME treatment on Slc6a8-/y mice. Results: Intranasal administration with DCE-ME improved NOR performance in Slc6a8-/y mice. Slc6a8-/y mice treated with DCE-ME had increased striatal ATP levels mainly in the striatum compared with vehicle-treated Slc6a8-/y mice which was associated with increased expression of synaptic markers. Conclusion: These results highlight the potential value of DCE-ME as promising therapy for creatine transporter deficiency.
G Ullio-Gamboa, KC Udobi, S Dezard, MK Perna, KN Miles, N Costa, F Taran, A Pruvost, JP Benoit, MR Skelton, P de Lonlayand, A Mabondzo. Dodecyl Creatine Ester-Loaded Nanoemulsion as a Promising Therapy for Creatine Transporter Deficiency (2019). Nanomedicine (Lond). 2019 Apr 30. http://dx.doi.org/10.2217/nnm-2019-0059
CEA is a French government-funded technological research organisation in four main areas: low-carbon energies, defense and security, information technologies and health technologies. A prominent player in the European Research Area, it is involved in setting up collaborative projects with many partners around the world.