ProjectARTEMIS – Nicht progressive kongenitale Ataxie - verbesserte Diagnose zu Eröffnung von Chancen für eine gezielte…

Basic data

Acronym:
ARTEMIS
Title:
Nicht progressive kongenitale Ataxie - verbesserte Diagnose zu Eröffnung von Chancen für eine gezielte Therapie
Duration:
01/02/2025 to 31/01/2028
Abstract / short description:
This is a project within the framework of the European Joint Programme Rare Diseases (EJP RD JTC 2023). The aim of the study is to improve knowledge on non-progressive congenital ataxia (NPCA, also called ataxic cerebral palsy) by investigating additional information to understand its genesis, predict its natural history and assess its impact. Specifically, we aim to: (i) improve the application of clinical criteria by refining training tools to allow more reliable identification of patients; (ii) develop a detailed imaging classification that allows better identification of patterns suggestive of an acquired or genetic background; (iii) improve our understanding of the underlying pathophysiology and identify indicators of a genetic background; (iv) provide a comprehensive description of the functional profile, especially cognition; (v) assess the quality of life of children and (vi) report on the contribution of studying health trajectories to a better understanding of NPCA.
Keywords:
ataxic cerebral palsy
non-progressive congenital ataxia

Involved staff

Managers

Faculty of Medicine
University of Tübingen

Contact persons

Faculty of Medicine
University of Tübingen

Other staff

Faculty of Medicine
University of Tübingen
Faculty of Medicine
University of Tübingen

Local organizational units

Paediatrics Department III and Polyclinic
University Children’s Hospital - Department of Paediatrics
Hospitals and clinical institutes, Faculty of Medicine
Institute of Medical Genetics and Applied Genomics
Department of Diagnostic Laboratory Medicine
Hospitals and clinical institutes, Faculty of Medicine

Funders

Bonn, Nordrhein-Westfalen, Germany

Cooperations

Grenoble, Rhône-Alpes, France
Toulouse, France
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