The protein replacement project is ongoing and initial results are encouraging. This effort is primarily centered at the University of Bologna and was initially funded through the generous donations of the Italian Association and a small grant from CDKL5 UK. MiaMed Inc, a company founded by a CDKL5 parent, has been formed to provide ongoing funding and direct the protein’s development. The founder has been instrumental in pushing this project forward by not only ensuring that it is fully financed, but also by recruiting support from an impressive board of advisors including academic and clinical experts.
What is extremely encouraging is that experiments using the knock-out mouse model have shown improvement in neuronal structure, function and most importantly, cognitive ability. These results support further investigation. The project is now focused on understanding the best dosing regimen as well as the tolerability and toxicity of injecting CDKL5. We remain hopeful that protein replacement therapy will become a treatment option in the future. For additional information, please contact Carol-Anne Partridge, firstname.lastname@example.org.