NeuroMetabolom – A Project to Optimize the Diagnosis in Rare Neurometabolic Diseases

Background: The diagnosis for several neurometabolic diseases is even nowadays often delayed or not at all possible. This is among other things due to the variety of possible differential diagnosis and the often very variable phenotypes. Furthermore, not all of the diseases have clear biochemical measurement parameters. Therefore, already in 2017, the supply project “TranslateNamse” was established at 9 centers in Germany in collaboration with the health insurances, following the aim of improving the care of patients with rare diseases. The project „NeuroMetabolom“ is a subproject within „TranslateNamse“, which aims to improve the diagnostic laboratory methods and thereby enabling an optimized diagnosis for neurometabolic diseases.

Aim: Within this project a mass-spectometry based „neurological csf panel“ was established. It´s aim is to replace the so far known metabolites measured in diagnostic single platforms and hence leading to step by step diagnostic by a quick, reliable und cheap method. Furthermore, new diagnostic parameters should be evaluated in their significance for a reliable diagnosis and the meaning for the clinical/therapeutic course.

Materials and Methods: The project „NeuroMetabolom“ can include all patients who suffer from an unclear neurological disease and participate in the project „TranslateNamse“ or are included in a similar structured process of characterizing and performing preliminary diagnostics of patients with unclear neurological symptoms. To all participating patients, a wide csf diagnostic will be offered with the determination of all so far known metabolites as well as the additional determination of further metabolites measured by the mass-spectometry based method.

Conclusion: Even nowadays the correct and reliable diagnosis in rare neurometabolic affected patients is a challenge. By establishing a mass-spectrometry based „neurological csf panel“, which will be evaluated by clinically well characterized patient samples of the „TranslateNamse“ project, the current step by step diagnosis can be optimized.