Huntington’s disease (HD) is a progressive, ultimately lethal, genetic disorder caused by a mutation in the gene coding for the protein mutant Huntingtin (mHTT). Despite numerous genetic intervention trials, there are currently no treatments that can slow down HD’s progression. To develop new treatments it is important to monitor disease progression and the effectivity of the treatment. One way to achieve this is by measuring mHTT levels, a specific biomarker for HD. However, the main challenge is that mHTT is mostly detected in cerebrospinal fluid (CSF), obtained via a lumbar puncture – a painful, invasive and time consuming procedure that can only be performed a limited amount of times throughout the course of the disease.
We recently discovered that mHTT is present in tears and developed a sensitive method to detect mHTT in tear fluid. Our method offers a non-invasive, faster alternative, and with a much higher detection of mHTT than in CSF. Importantly, this technique even enables detection of mHTT for individuals who carry the mutated HD gene but do not show symptoms yet, which is not possible with the current methods. Our goal is to develop a user friendly test to detect HD biomarkers in tears. During this project we will perform a clinical and technical validation, a market study and a product development plan to identify the regulatory and quality steps required to bring our diagnostic test to market. Our approach will enable an easy, accessible and patient friendly monitoring tool in clinical trials but also a potential diagnostic tool to be used once treatments become available.
