Radboudumc will initially focus on accurately mapping the disease SCA1, by following the natural course of the disease and by researching changes in blood, cerebrospinal fluid and MRI scans in SCA1. In a later phase, Radboudumc will be involved in carrying out the first treatment study within the project.

Radboudumc team members involved:

Redenlab (www.redenlab.com) is an Australian company specializing in the automated analysis of language and speech. They have a lot of experience in this area, also with ataxia. The voice recordings that we will make during this study will be anonymized and shared via a secure connection with Redenlab, who will do the analysis of these recordings. The question is whether such automated speech analyzes can quickly and reliably pick up changes in the disease.

Engaged team members Redenlab:

The LUMC (www.neurodlableiden.com/nl) specializes in the preclinical development of medicines for hereditary brain disorders. The 3-year preliminary research that preceded the current study was conducted at the LUMC. This pilot study is funded by the Dutch SCA1 Families Fund and facilitated by the Dutch Brain Foundation. In the current research project, the LUMC is validating the drug candidate in SCA1 cell models.

Committed team members LUMC:

Vico Therapeutics (www.vicotx.com) is a Dutch biotech company based in Leiden that specializes in developing medicines for rare hereditary diseases. Vico already has a drug candidate for SCA1 and is currently assessing its safety in laboratory animals. The aim is to set up a clinical study at the end of 2021 to demonstrate the safety of the treatment in a small number of SCA1 patients, together with Radboudumc. If safety is proven, a treatment study can then be started, also in collaboration with Radboudumc.

Engaged team members Vico Therapeutics:

SCA1 Giving Circle (www.hersenziekte-sca1.nl). In July 2015, over 10 SCA1 families formed the Giving Circle, after years of watching relatives suffer and die from SCA1. The Giving Circle's goal was to raise sufficient resources through campaigns and donations for research into a drug for SCA1. These actions started in mid-September, in June 2016 there was enough to start the preliminary investigation in the LUMC. Several SCA1 families have now joined and are closely involved in the research.

SCA1 Giving Circle Team Members Engaged:

Astrid Hooghiemstra is a senior researcher at Alzheimer Center Amsterdam, Amsterdam UMC, location VUmc, and has experience in science communication. She advises various projects on the use of the website, social media and other means of communication.

Committed team members Amsterdam UMC: