Contrato para el desarrollo del proyecto Estudio ESMI - European Spinocerebellar Ataxia type3/Machado-Joseph Disease lnitiative

Datos básicos

Código del Financiador:

CSI24/06

Año Inicial:

2024

Año final:

2026

Objetivos del proyecto

The aim of this study is to compile a trial-ready cohort of sufficient size consisting of patients with spinocerebellar ataxia type 3 (SCA 3) and first-degree relatives, so-called risk persons, for future drug studies. Spinocerebellar ataxia type 3 (SCA 3) is also known as Machado-Joseph's disease, the most common hereditary ataxia. The causal gene mutation is known, but there is no therapy available yet. A main focus of the study is to identify biomarkers that show the disease severity at a very early stage. These are of particular importance for future drug studies as developmental parameters.