Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is the most common autosomal dominant inherited ataxia. Although the gene mutation causing SCA3 is known, there is no treatment. However, new therapy approaches are being developed.
The European SCA3/MJD Initiative (ESMI) was launched in 2016 with initial funding from the EU Joint Program Neurodegenerative Disease Research (JPND). ESMI set up the world's largest longitudinal cohort of SCA3 mutation carriers. Using data and biomaterials of the ESMI cohort, we are developing new imaging and fluid biomarkers that are needed for a better understanding of SCA3 and for the preparation of therapeutic trials in this disease. The ESMI consortium has 10 partners in 5 European countries. ESMI is closely collaborating with patient organisations and pharmaceutical industry.
Project Aims
The European Spinocerebellar Ataxia Type 3 (SCA3) Initiative, also known as ESMI, is a project aimed at preparing for high-quality clinical trials in SCA3, also known as Machado-Joseph's disease. The main objective of the project is to create a large database of SCA3 patients by merging data from participating centers and pre-existing databases.
In addition to people with a diagnosis of SCA3, the study also includes individuals at risk of developing the condition, such as first-degree relatives of patients, and healthy controls. This is crucial for comparing what is different in SCA3 compared to the general population and for identifying early markers of the condition that may become apparent before symptoms start. Brain scans (MRI) are also performed to detect changes that can be used in future trials.
ESMI Cohort
People with a diagnosis of SCA3 participating in the ESMI cohort are seen annually and undergo standard assessments of the ataxia, such as ataxia rating scales, to understand how SCA3 changes over time and use this information to design future trials. Blood samples and samples of cerebrospinal fluid are also collected to develop biomarkers of SCA3 that can be used to evaluate the effectiveness of treatments in trials. Brain scans (MRI) are also performed to detect changes that can be used in future trials. In addition to people with a diagnosis of SCA3, the ESMI cohort also includes individuals at risk of developing SCA3 and healthy controls.
If you or a close relative have been affected by SCA3, we ask you to participate in the ESMI cohort. Your participation will be vital in helping to understand SCA3 and ultimately find treatments for this debilitating disease. By contributing your medical information and undergoing standard assessments, blood tests and brain scans, you can make a real difference in the fight against SCA3. Join us in this effort to improve the lives of those affected by SCA3. Please visit our contact page to get in touch today.
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