Research Grant

Jana Boy, Ph.D.

University of Tuebingen, Tuebingen, Germany
Assessment of riluzole treatment as a therapy for SCA3

Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is a family disorder leading to progressive degeneration of brain cells in affected patients. SCA3 patients suffer from progressive movement deficits and are wheel-chair bound in later disease stages. Up to now, no curative therapy is available for this disease. In a recent study, a group of neurologist at the University hospital of Rome (Italy) treated a group of different ataxia patients with Rilutek and compared them with untreated patients. Rilutek is a drug already approved and successfully used for the treatment of a different brain disease called amyotrophic lateral sclerosis (ALS). After just eight weeks of treatment, behavioural deficits of treated ataxia patients clearly regressed. However, among the treated group were patients suffering from different kinds of ataxias and the treatment was only carried out for just 2 months. It is, therefore, important to confirm whether Rilutek may also be beneficial in a long term treatment and also suitable for patients suffering from SCA3.

We plan to answer both questions using a novel mouse model of SCA3 which we were able to generate recently. As the lifetime of laboratory mice is much shorter than that of humans, analyses in mouse models of diseases allow to follow the progression (and also regression) of disease symptoms in a time-lapse manner. We will treat our mice with Rilutek at different concentrations and starting at different time points. We will then analyze treated and untreated mice with specific methods which allow us to even quantify both the disease progression/regression and even the efficiency of the treatment with Rilutek. We hope to confirm that Rilutek is also suitable as potential drug against SCA3 and that its effect is not just symptomatic but that Rilutek is even able to cure this severe disease.