Neurologist Bart van de Warrenburg, together with Willeke van Roon-Mom and Annemieke Aartsma-Rus (both LUMC/Dutch Center for RNA Therapeutics), has been awarded 400,000 euros by the Dutch Brain Foundation. With this money they will take the first steps towards a genetic therapy for the rare hereditary movement disorder SCA7.
SCA7 is a hereditary disease of the cerebellum that leads to progressive gait and balance disorders, severe limitations in daily life and often premature death. In this disease, the retina is also affected, with severe deterioration of vision. Many patients develop their first symptoms in young adulthood. The earlier the disease starts, the more aggressive it becomes. There is currently no treatment for the disease.
Inhibiting damage with a piece of RNA
The project investigates whether it is possible to reduce the production of the harmful SCA7 protein with an artificially produced piece of hereditary material (an anti-sense oligonucleotide - AON). This technique is being tested in cultured nerve cells from the affected patients. In addition, the course of the disease is being carefully mapped out. At the end of the project, the three researchers want to take the step towards the first application of a therapy in patients.
Van de Warrenburg: "There is still much uncertainty about how developed therapies for very rare diseases can ultimately be implemented in healthcare, for example in terms of registration and reimbursement. Within the project there will be early consultations with regulatory bodies to coordinate this process for SCA7. In doing so, it can also act as a 'showcase' for similar initiatives." A special feature of this project is that part of the subsidy was raised by a crowdfunding campaign from patients and their relatives. They also remain actively involved in the project. For example, the patient representative becomes a member of the project team.
The Radboudumc is a recognized center of expertise for rare and inherited movement disorders and is part of the European Reference Network for Rare Neurological Disorders (ERN-RND).