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WINTER 2025 InTouch | 19 In 1993, scientists identified the first gene responsible for a rare neurological condition known as spinocerebellar ataxia type 1 (SCA1). Since then, research has rapidly progressed, with over 50 types of spinocerebellar ataxia (SCA) now recognised—each linked to a unique genetic mutation. Now, three decades later, New Zealand is taking a historic step in this field with its first clinical trial targeting one of these rare conditions: spinocerebellar ataxia type 2 (SCA2). The trial is testing an experimental treatment known as ARO-ATXN2, aiming to evaluate its safety and tolerability in people living with SCA2. The study is being conducted at two sites, in Christchurch and Auckland. SCA2 is caused by a genetic mutation in the ATXN2 gene, which results in an overproduction of the ATXN2 protein. In excess, this protein becomes toxic to brain cells. The experimental drug ARO-ATXN2 is designed to reduce levels of this harmful protein in the brain, bloodstream, and cerebrospinal fluid, with the hope of slowing disease progression. In preclinical trials involving animals with SCA2, ARO-ATXN2 has demonstrated potential in slowing the condition’s development. While promising, it is important to note that ARO-ATXN2 is still experimental RESEARCH NEWS A milestone for neurology in Aotearoa: NZ’s first clinical trial in Spinocerebellar Ataxia Groundbreaking research brings hope for those living with rare inherited brain disorders and has not yet been approved for clinical use anywhere in the world. The treatment is being developed by Arrowhead Pharmaceuticals, Inc., who are also sponsoring this study. Participant recruitment is being coordinated through Pūnaha Io—the New Zealand Neurogenetic Registry. Adults aged 18 to 70 living with SCA2 who are interested in learning more about the trial are encouraged The experimental drug ARO-ATXN2 is designed to reduce levels of this harmful protein in the brain, bloodstream, and cerebrospinal fluid, with the hope of slowing disease progression. to contact Miriam Rodrigues at neurogenetics@adhb.govt.nz This marks a significant step forward for neurological research in Aotearoa, offering renewed hope for individuals and families affected by inherited ataxias.