Rare Disease Network for Myasthenia Gravis

George Washington University, Washington DC

Investigators

Linked publications & trials

Abstract

Myasthenia gravis (MG) is a chronic autoimmune disorder affecting neuromuscular transmission, with a prevalence between 77 to 167 per million. To further complicate investigations of MG is that it consists of distinct subcategories: 1) early-onset AChR antibody-positive, 2) late-onset AChR antibody-positive, 3) paraneoplastic thymoma-associated, 4) MuSK antibody-positive, and 5) AChR/MuSK antibody-negative MG. MGNet, funded in 2019 as part of the Rare Disease Clinical Research Network, aims to continue to enhance biomarker development, improve clinical trial performance, and broaden the understanding of MG pathophysiology. Despite recent FDA approvals of new therapies, treatment outcomes remain variable with significant adverse effects. Patients face challenges due to the absence of a cure, treatment complications, variable responses, high costs, and poor quality of life. Clinical outcome metrics are limited as unanimously agreed by patients, industry and investigators. No biomarkers predict or correlate with treatment response and about 10 percent of patients have no serological diagnostic marker. To address these unmet needs, we propose the following specific aims. Aim 1 will enhance clinical trial readiness through prospective patient monitoring using an electronic medical record-based application (Project 1). Aim 2 serves to identify and validate diagnostic, treatment-predictive and -responsive biomarkers to enhance early-phase clinical trials and improve disease monitoring (Projects 2 and 3). Aim 3 supports a diverse pool of investigators focusing on rare diseases and engage novel investigations into MG (Pilot Studies, Career Enhancement). Aim 4 maintains a successful Administrative Core to assure support for all investigators in their work and improve awareness among scientists, physicians, and the public regarding the unique needs of MG patients. We assure our success through our continued work with the MG Foundation of American and Conquer MG with the addition of the MG Association and the MG Foundation of Michigan.