ESMI

European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative

ESMI is funded in the framework of the EU Joint Programme – Neurodegenerative Disease Research (JPND) in partnership with the European Commission (Jpco-fuND). The national funding in Germany is provided by the German Ministery of Education and Research (BMBF, Germany).In addition to Germany with locations in Bonn, Tübingen, Aachen, Essen and Frankfurt, the following countries are represented: Portugal, Great Britain and the Netherlands. There are also collaborations with France, Brazil and the USA. Cooperation with other countries is planned. The study is coordinated by Prof. Thomas Klockgether. He is the director of the Clinic and Polyclinic for Neurology at the University Hospital in Bonn and director of clinical research at the German Center for Neurodegenerative Diseases (DZNE).

Background and aims

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.

Overview

ESMI brings together a total of 8 cohorts internationally, whose participants are brought together in a common database and examined with the same standardized protocols. Special attention is paid not only to patients who are already ill, but also to so-called high-risk individuals, i. e. first-degree relatives who are also carriers of the triggering gene mutation with a 50% risk.

Course of the study

In addition to the clinical neurological examination, the studies also include blood tests (optionally also cerebrospinal fluid collection) and MRI imaging. In addition, the survey of lifestyle factors such as everyday life activities and the subjective perception of quality of life provides a record of factors that directly describe the everyday constraints caused by the disease.

Further information and contacts can be found here.

Principle Investigator: Prof. Dr. Thomas Klockgether
Status: multi centric, ongoing, recruiting active

Study Coordination / Project Management

Dr. Jennifer Faber
jennifer.faber@dzne.de

Participating sites

Bonn

DZNE
Local contact:

Prof. Dr. Thomas Klockgether
+49 228 287-15726

Tübingen

Universitätsklinikum Tübingen - Zentrum für Neurologie, Abteilung Neurodegenerative Erkrankungen
Local contact:
Dr. Holger Hengel​​​​​​​

Info-Hotline

Thursdays 1:30-4:30 pm

Patients +49 800-7799001

(free of charge)

Professionals +49 180-779900

(9 Cent/Min. German landline, mobile and out of Germany possibly more expensive)

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