Northwestern Neuromuscular Disease Biorepository

Overview

The primary objective of this research is to collect clinical data and tissue samples from adult patients with neuromuscular disease cared for at the Northwestern Memorial Hospital neuromuscular clinic (Lavin Building, 19th floor). This study has the following aims: Aim 1: To consent a large cohort of adult study participants with neuromuscular disorders, including but not limited to motor neuron diseases, neuropathies, neuromuscular junction disorders, and myopathies for participation in the biorepository and to collect longitudinal data on their clinical disease phenotypes. Aim 2: To obtain and store biological samples from biorepository study participants, including whole blood, plasma, serum, peripheral blood mononuclear cells \[PBMCs\], skin biopsies, and cerebrospinal fluid. Aim 3: To develop a data-sharing process to provide de-identified biorepository participant clinical data and samples to partnered investigators to expedite discovery in neuromuscular disease diagnosis and treatment.

Northwestern University and the associated Northwestern Memorial Hospital serve a nexus of clinical care and translational research in neuromuscular disease. A significant opportunity exists within the division to develop a robust Neuromuscular Disease Biorepository (NDB) in which carefully-phenotyped patient biofluid samples are catalogued and made readily available to partnered basic and translational scientists both within and outside of the Northwestern academic community. The overarching hypothesis underpinning the Northwestern Disease Biorepository is that longitudinally sampled participant biosamples paired to refined clinical and paraclinical phenotypic data will accelerate basic and translational scientific discovery both locally at Northwestern and ultimately in the larger research community. This is imperative in the world of neuromuscular disease, where effective treatments are emerging yet all too rare, and understanding of disease mechanisms is still in a fledgling state for most conditions. Procedures: A possible participant will be identified by minimal risk screening activities by the biorepository principal investigator or delegated co-investigators. Screening activities include routine chart review including clinical notes, laboratory and radiologic investigations, pathology reports, and completed genetic testing. After a possible participant has been identified, they will be consented by a biorepository investigator using the IRB-approved informed consent form (ICF). Consented participants will then complete a clinical data questionnaire (IRB-approved data collection tool) specifically designed to allow biorepository investigators to rapidly and accurately phenotype the wide-spectrum of neuromuscular disease encountered in routine clinical care. Blood samples will be obtained by trained repository staff. Blood samples will be routinely processed into plasma and serum; additional processing for RNA extraction and peripheral blood mononuclear cells will be completed at the investigator's discretion. Cerebrospinal fluid (CSF) sampling is optional; Lumbar puncture will be completed by a qualified investigator as described in the NU IRB protocol. CSF samples can also be obtained in the event of an indicated lumbar puncture during routine clinical care or as an adjunct to other ongoing studies within the NU/NM neuromuscular division where permitted by the specific study protocol. Clinical data questionnaires and samples will be obtained every six months where feasible. To obtain access to biorepository samples, an interested research group must contact a biorepository investigator and provide a scientific proposal describing their hypotheses and specific use of provided biosamples. Requests will be sent to the PI Dr. Donaghy at Ryan.Donaghy@nm.org. Requests will be approved by the protocol detailed in the Biorepository Scientific Validity Review Committee Standard Operating Procedure (SVRC SOP). Unless a requesting research group has already received an IRB approved proposal that allows for sharing of protected health information (PHI) by HIPAA rules, research samples will be provided without any of the 18 established PHI content as described in the SOP. The provision of non-PHI-containing research materials to requesting researchers is approved by Northwestern University-IRB.