Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder caused by mutations in the ataxin-3 gene. Genes are a code made up of the letters A, T, G and C. In people with SCA3, a specific region of the ataxin-3 code contains the letters ‘CAG’ repeated many times. This results in the production of an abnormal and toxic form of the ataxin-3 protein, leading to brain degeneration that causes disordered movement and other symptoms. So far, there are no disease-modifying treatments for patients with SCA3, or medications to slow its progression.
Back in May 2019 Ataxia UK reported on data released by leading gene therapy company, uniQure, on their gene therapy candidate ‘AMT-150’ (also referred to as AAV5-miATXN3) for the treatment of SCA3 (the full article may be viewed here). The results, from studies in mice, demonstrated potential for AMT-150 and were recently published along with additional data from studies in a large animal model, the minipig. This additional data demonstrated that delivery of AMT-150 via the cerebrospinal fluid (CSF) is capable of reaching the main areas of the brain affected in SCA3. These results provide a strong basis for moving forward with further large animal studies.
The full paper was published in December 2019 as an open access article and is accessible here.