TreatHSP research projects

9 results:
1. SP1 - Coordination  
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Coordination and central infrastructure of the TreatHSP.net consortium Project lead: PD Dr. Rebecca Schüle (Universität Tübingen) The coordination unit supports the TreatHSP consortium in achieving its main goals: the development, validation and implementation of new therapies for HSP. The sustainability of resources, knowledge and results developed in TreatHSP are important…  
2. SP2 - Sensor-based outcome parameters  
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Sensor-based monitoring of gait in HSP patients and implementation in everyday life Project lead: Zacharias Kohl, Jürgen Winkler (Universität Erlangen) Scientific studies that specifically investigate the gait pattern of patients with HSP are currently lacking, although standardized and objectifiable gait parameters are urgently needed for future interventions to improve gait. In this…  
3. SP3 - Patient-centered outcome parameters  
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Development and validation of patient- and caregiver-reported outcome parameters in HSP Project lead: Stephan Klebe, Karl-Heinz Jöckel (Universitätsmedizin Essen) Validated clinical outcome measures are an essential prerequisite for clinical trials. Existing outcome measures do not always systematically measure aspects and concepts relevant to patients and caregivers. The concept of…  
4. SP4 - Biomarkers in human cortical neurons (SPG4/31)  
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Biomarker development and identification of new therapeutic targets for SPG 4 and SPG31 in neuronal model systems Project lead: Ludger Schöls, Stefan Hauser (Universität Tübingen) The aim of this project is to investigate early steps in the pathogenesis of SPG4 and SPG31 in a neuronal cell culture model. Using CRISPR/Cas9 technology, we will generate both SPAST and REEP1 knockout lines…  
5. SP5 - Biomarkers in HSP mouse models  
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Metabolomic investigations in selected mouse models for hereditary spastic paraplegia (HSP) Project lead: Christian Hübner (Universität Jena) The consortium has different mouse models for HSP available for the planned metabolic investigations. These animals will be bred in sufficient numbers and killed at defined times in order to remove brain and spinal cord tissue as well as…  
6. SP6 - Genetics of HSP  
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The 'diagnostic gap' in HSP - non-coding variants in known HSP genes Project lead: Rebecca Schüle, Stefan Ossowski (Universität Tübingen) Hereditary Spastic Paraplegias (HSP) are genetically extremely heterogeneous. Nevertheless, even using the most modern genetic methods, genetic diagnosis can only be confirmed in just over half of all cases. We believe that this 'diagnostic gap' is not…  
7. SP7 - GSK3ß signalling in autosomal recessive HSP  
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GSK3ß dependent mechanisms in neurons derived from human stem cells for autosomal recessive HSP Project lead: Beate Winner, Martin Regensburger (Universität Erlangen) The hypothesis of this project is that the different types of autosomal recessive complicated hereditary spastic paraplegia (HSP) share the same pathophysiology of changes in the GSK3 signalling pathway. If confirmed, this…  
8. SP8 - Therapeutic approaches for SPG7  
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Pathogenic mechanisms and therapeutic approaches for HSP caused by mutations in SPG7 Project lead: Elena Rugarli (Universität Köln) Mutations in SPG7 are among the most common causes of recessive and sporadic cases of hereditary spastic paraplegia (HSP). SPG7 encodes paraplegin, a mitochondrial protease involved in the quality control of inner membrane mitochondrial proteins and the…  
9. SP9 - Neuroinflammation as a therapeutic target for SPG11  
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Inflammation as a possible target in the treatment of SPG11: repurposing of clinically established immunomodulators for the treatment of a genetic disease of the nervous system Project lead: Rudolf Martini (Universität Würzburg) In mouse models for SPG11, we want to investigate whether genetic inactivation of the adaptive immune system leads to a mitigation of the disease. If confirmed,…