Thais Armangue, MD, PhD

Institute for Biomedical Research August Pi i Sunyer-Barcelona, Spain

Opsoclonus myoclonus syndrome: a novel approach to antigen identification and disease modeling

All the way in Barcelona, Spain, Dr. Thais Armengue is studying a rare autoimmune condition called Opsoclonus-myoclonus Syndrome (OMS). With her Powered by Pablove funds, Dr. Armengue is using novel technical approaches to identify the specific antibodies involved in OMS, paving the way for a more thorough understanding of how the disease develops. 

 

In Dr. Armengue’s own words: 

Opsoclonus-myoclonus syndrome (OMS) is a rare autoimmune disease characterized by rapid, multidirectional eye movements (opsoclonus), involuntary muscle jerks (myoclonus), gait unsteadiness (ataxia), and irritability caused by brain inflammation. The onset of OMS is usually abrupt but symptoms may persist for several months or become chronic with permanent deficits. An autoimmune neurological disease occurs when the mechanisms of defense of the body attack our own nervous system. In OMS, the brain attack is often iniciated by the presence of tumors that are ouside the brain (e.g. neuroblastomas in young children), or by infections. The proteins used by the immunological system to attack the brain are called antibodies, which can be detected in the blood or cerebrospinal fluid (CSF) of patients. Despite a high suspicion that antibodies are involved in OMS, previous studies have failed to consistently detect them, or if detected, they are only found in a minority of patients. In this study we will use novel technical approaches (brain tissue and rodent and human cultured neurons) to identify antibodies in a group of 202 adult and pediatric patients with OMS whose clinical information and samples are already available. We will also develop a murine model of passive transfer of patients’ antibodies and other molecules present in serum or CSF in order reproduce the disease in mice; such a model would help to better understand the disease and develop treatment strategies.

Awarded in 2020