Department of Pediatrics, Pediatric Neurology, Friedrich-Alexander University
The Division of Pediatric Neurology and Neuromuscular Diseases provides comprehensive diagnostic and multidisciplinary medical treatment for children of all age groups with neurological diseases, developmental anomalies and neuromuscular disorders. The total number of out-patient admissions is about 5000 patients per year, especially in the field of epilepsy, neurodevelopmental disorders and neuromuscular diseases. Following an interdisciplinary concept, the Division includes a Social Pediatric Centre (Sozialpädiatrisches Zentrum, SPZ). The group at the Division of Pediatric Neurology consisting of 10 pediatricians (7 of them specialized in Pediatric Neurology) is highly experienced in controlled studies along to GCP standards. The Division of Pediatric Neurology is part of the certified Bavarian Muscle Center (Muskelzentrum Bayern Mitte). Clinical and experimental research focuses on epilepsy, neuromuscular disorders, and experimental neuroprotection.
Role within Screen4Care
WP3: The validated genetic NBS test and protocol for DMD, SMA, and PD will be piloted, based on the general recommendations for NBS, including ethical and legal considerations, and strategies for implementation by recruiting patients from three different European countries. Patients with suspected RDs will be identified, assigned to a paediatric neurologist for further diagnostics including genetic counselling and newly generated imaging biomarkers. The performance of the novel algorithms (WP2) and its significance will be assessed. WP3 will develop a SCREEN4CARE platform as a disease specific registry to facilitate long-term follow-up of patients diagnosed through NBS.
WP4: UKE will implement novel imaging biomarkers for deep phenotyping by the use of MSOT. This method will be used to visualize and quantify in vivo the content of tissue biomarkers (i.e. haemoglobin, collagen, lipid) in muscle tissue of patients of all age groups, and to provide follow up monitoring. In addition, a protocol of technical/methodical details, and practical execution will be developed.
