Tracking Major Milestones of Rare Neuroimmune Disorders


A group of panelists discussed the history of the Siegel Rare Neuroimmune Association, and the progress made on rare neuroimmune disorders in the nearly 30 years since its existence.

WATCH TIME: 6 minutes

Rare neuroimmune disorders are immune-mediated disorders of the central nervous system in which cells become “confused” and mistakenly attack an organ within a person. Patients may have acute flaccid myelitis (AFM) or transverse myelitis (TM) when the spinal cord is affected or optic neuritis when the optic nerve is impacted. In acute disseminated encephalomyelitis (ADEM), MOG antibody disease (MOGAD), and neuromyelitis optica spectrum disorder (NMOSD), there are various patterns of organ involvement, and in some disorders there is the potential for recurrent events.

Over the years, the detection of these disorders, and the way they are treated, has improved significantly. For years, neuromyelitis optica was thought to be a variant of multiple sclerosis (MS), but in 2004, a circulating immunoglobulin autoantibody was reported in patients with neuromyeltis optica that was absent in those with MS. Within a year, the astrocyte water channel protein aquaporin-4 was identified as its target, leading to several advanced therapeutics more than a decade later.

In collaboration with the Siegel Rare Neuroimmune Association, NeurologyLive® hosted a Roundtable Discussion focusing in on the major advances since the organization’s birth, nearly 30 years ago. The panel included Sanford Siegel, current president of SRNA, Benjamin Greenberg, MD, vice chair of clinical & translational research at UT Southwestern Medical Center, and Douglas Kerr, MD, chief medical officer of GeneratioBio and a key figure in the establishment of the Johns Hopkins Transverse Myelitis Center, the only such specialized center in the world. In this episode, the group discussed the origins of the organization, and some of the progress made in rare neuroimmune disorders since that time.

Marco Meglio: It's been nearly 30 years of SRNA, and we've witnessed significant progress in rare neuroimmune disorders. Could you share some of the major milestones during this time? I'll give you the floor.

Sanford Siegel: To provide some context, we began as the Transverse Myelitis Association because my wife, Pauline, and the Gilmer’s daughter had transverse myelitis. That was the extent of our knowledge. Over the years, our organization has evolved to advocate for individuals with a variety of rare neuroimmune disorders. Transverse myelitis and neuromyelitis optica spectrum disorder are examples. When we started, we didn't even know about NMO. Neurology, at the time, considered it a sub-variant of multiple sclerosis. New disorders like acute flaccid myelitis and MOG antibody disorder were also unknown to us initially. Acute disseminated encephalomyelitis entered our radar later. We don't have time to delve into how individuals with ADEM and NMO found us, but they did. Consequently, our organization quickly expanded to advocate for these disorders as well. In 2017, Pauline passed away, leading the board to change our organization's name from the Transverse Myelitis Association to the Siegal Rare Neuroimmune Disorder Advocacy Foundation. This name change more accurately represents all the disorders we now advocate for. Our journey from focusing solely on disorders known in 1994 to advocating for a broader spectrum signifies a tremendous advancement in our field.

Douglas Kerr, MD: This journey has provided incredible opportunities for families to come together, share their experiences, and bond around these disorders. I became aware of the Transverse Myelitis Association around 1997. Having completed my PhD in neuroimmunology, I was fascinated by the immune system's attack on the nervous system. Meeting a couple of transverse myelitis patients sparked my interest in understanding this phenomenon more deeply. In 1999, after finishing my neurology residency, I had the chance to meet Sandy and other members of the Transverse Myelitis Association. This encounter also took place in Seattle, right, Sandy?

Sanford Siegel: Absolutely, that was our initial meeting. We began in 1994, a time when there were only three articles in the medical literature about transverse myelitis, indicating a lack of research.

Douglas Kerr, MD: At that symposium, I presented based on those three articles. However, even at that time, the term "transverse myelitis" had been known for 130 years, recognized as a post-infectious immune-mediated attack. We now understand this to be true for many disorders within this spectrum. In some cases, it resulted from a direct infection and an overactive immune response. In either case, the immune response damaged the nervous system. I aimed to comprehend this better, and despite having no more knowledge than anyone else, I set up the first Transverse Myelitis Center. I believed that if I built it and claimed expertise, others might come to contribute their understanding. We wanted to create a critical mass of knowledge about these disorders to advance categorization and therapies. That's precisely what occurred. I hired Chitra Krishnan, who is now the executive director of the Siegal Rare Neuroimmune Association. She helped us determine what we needed to learn, including clinical data and samples like CSF, DNA, and serum. This was the foundation for advancing our understanding of these disorders and the umbrella they fall under. The next significant milestone was the establishment of the center. Two years later, we published the first international consensus guidelines, defining what transverse myelitis is and what it is not. These guidelines, published in Neurology, provide clinicians with a clear framework to determine whether a patient has transverse myelitis. This event marked the birth of a field that recognizes related but distinct neuroimmunologic disorders. These early landmarks have shaped our community.

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