WP Leaders: Orla Hardiman & Adriano Chio

WP1 will utilize existing protocols developed by the Euro-MOTOR consortium to optimize patient ALS biomarker sample documentation, collection and storage. This will be achieved by generating a minimal clinical dataset from ALS patients, based on current knowledge relating to existing diagnostic criteria and known prognostic indicators. In addition to the provision of clinical datasets, detailed protocols will be developed for uniform biological sample collection, including serum, plasma, urine, cerebrospinal fluid, DNA, RNA, fibroblasts and autopsy material. An integrated logistical framework will be established that will include sample tracking, storage and shipping parameters. The established platform will facilitate pan-European access to rare clinical and genetic variants of ALS/MND, and will include the added value of the establishment of state-of-the-art harmonised neuropathology protocols for optimal tissue collection, dissection, storage and pathological evaluation. The platform will provide integration of well-established clinical, neuropathology and brain bank based networks and will thus generate data to facilitate a new clinical, genetic and pathological subclassification of sporadic disease as well as genetic variants. The neuropathology component will be coordinated by Professor Paul Ince.

Ultimately this work package will provide optimized and harmonized SOPs of patient biomarker assays, analytic methods and neuropathological techniques mapped to defined pathological and genetic subtypes of disease. Utilizing existing technologies including a web-based data repository provided by the Euro-MOTOR consortium, this work will provide a fully integrated virtual biobank from which biological samples and clinical/imaging/neurophysiologic and neuropathological datasets provided by participating members can be utilized to enable state of the art collaborative analyses.