SRNA at the American Academy of Neurology Annual Meeting

One very important part of SRNA’s mission is to advance the scientific understanding of and therapy development for ADEM, MOG Antibody Disease, NMOSD, ON, and TM (including AFM). We do this by supporting the training of clinician-scientists and by supporting basic and clinical research about these disorders. Part of doing research involves disseminating or sharing research findings to the medical community, and this is often done through peer-reviewed publications, or by presentations at conferences. We are proud to announce that SRNA supported research was presented at the 70th American Academy of Neurology Annual Meeting, which was held from April 21-27th in Los Angeles, California.

Dr. Olwen Murphy, a current James T. Lubin Fellow, and a team at The Johns Hopkins Hospital presented research on pediatric myelopathies. They conducted a retrospective review of 43 patients who were less than 21 years old who were referred to the Johns Hopkins TM Center with a diagnosis of TM between 2010-2017. They reviewed the temporal profile of symptoms, clinical presentation, cerebrospinal fluid analysis and spinal cord magnetic resonance imaging of the patients. They found that clinical, laboratory and imaging findings were consistent with inflammatory myelopathy in 29 patients (infectious [n=10], idiopathic [n=5], neuromyelitis optica [n=1], neuromyelitis optica spectrum disorder [n=1], clinically isolated syndrome [n=1], other [n=11]) and non-inflammatory myelopathy in 11 patients (SC ischemia [n=9], metabolic [n=2]). In 3 patients, the cause was unclear.

Maureen Mealy, also from the Johns Hopkins TM and NMO Centers, presented similar research that looked at 1000 patients who were referred to the Johns Hopkins TM Center between 2010 and 2017. They reviewed patients’ clinical/temporal profile, their neuroimaging, and laboratory findings to establish a final diagnosis. They found that 62% were confirmed to have an inflammatory cause for their myelopathy, of which 35% was idiopathic. They found 41% of patients had myelopathy attributable to an underlying disease such as multiple sclerosis or neuromyelitis optica spectrum disorder.

Dr. Murphy, Dr. Pardo, and Dr. Gailloud also presented research on a group of 100 patients with symptomatic low-flow spinal arteriovenous fistulas (SAVF). Low-flow SAVFs are the most common spinal vascular malformation and they can cause severe disability, including paraparesis, pain, bladder and sexual dysfunction. Most low-flow SAVFs can be treated, but they are frequently misdiagnosed, which can delay treatment. They identified clinical features that may help physicians identify this diagnosis, such as older age, male gender, history of intermittent cramping pain in the legs because of low blood flow during exercise, and risk factors for venous thrombosis.

Dr. Stacey L. Clardy at The University of Utah, one of the James T. Lubin Fellowship training sites, also presented research at AAN. Her team’s research aimed to determine the rate and characteristics of patients not meeting diagnostic criteria for neuromyelitis optica spectrum disorders who tested positive for autoantibodies to aquaporin 4 (AQP4). They found 48 patients in the University of Utah medical system who tested positive for AQP4, but only 20 of them met the clinical criteria for NMOSD. They argue that individuals should be tested for AQP4 multiple times to ensure patients do not receive false negative results.

Dr. Jonathan Galli, who will start his James T. Lubin Fellowship this summer, worked with Dr. Clardy on another research study that aims to characterize patients with NMOSD in the Department of Defense (DoD) population. They identified 131 patients within the DoD system who had the code for NMOSD documented in their medical record, 39 of whom were service members. Only 17 of this cohort of 39 met the criteria for NMOSD. Their clinical characteristics matched other reports of individuals with NMOSD, except for the distribution between men and women, but this may be because of the characteristics of the DoD population as a whole.

For more information on other research and clinical publications supported through the generosity of SRNA community, please visit

Studying the Pathology of Transverse Myelitis Through Biopsies

Idiopathic transverse myelitis (TM) is rare, and spinal cord tissue demonstrating the pathology of idiopathic transverse myelitis is even rarer. In fact, there are no confirmed cases of human idiopathic transverse myelitis that have been published in the medical literature!

Why would someone want to look at the spinal cord tissue of someone with TM? The reason is that we don’t know what is happening in the spinal cord at the time of an attack. Researchers can stain spinal cord tissue to see many different types of immune cells that may be involved. They can also get a sense of the target of the immune response that is occurring in TM. For example, is the immune system attacking astrocytes, myelin, neurons and/or other structures?

Getting a biopsy of the spinal cord is not routinely done to make a diagnosis of idiopathic TM. However, some patients with unique cases may have undergone a biopsy to rule out a tumor or other process. If you had a biopsy done in the past, and were ultimately diagnosed with idiopathic TM, Dr. Michael Levy and his team at Johns Hopkins Medicine would like your permission to access the biopsy material and study it.

If you are among the rare TM patients who have had a biopsy, you can learn how to participate here.

Serum IL-27 and IL-35 levels and disease severity in neuromyelitis optica spectrum disorders

Researchers in 2016 conducted a study to investigate the role that interleukins play in the development of neuromyelitis optica spectrum disorder (NMOSD). Interleukins are a type of protein created by white blood cells that respond when there is a suspected disease in the body. Interleukins have been shown to play an important role in autoimmune diseases. In order to investigate the role of a family of interleukins (IL-12) in the pathology of NMOSD, researchers measured their levels in the blood (serum) and cerebrospinal fluid (CSF) of individuals with NMOSD and assessed their relationship with clinical symptoms presented by these individuals.

In order to complete the study, researchers recruited 45 patients with NMOSD from the Neurology Department of Tianjin Medical University General Hospital from January 2012 to July 2015. These patients had all been diagnosed with NMOSD using identical criteria and had also been receiving similar steroid treatment to manage their diagnosis. Researchers also created a control group of healthy individuals matched for sex and age to compare to the group of patients diagnosed with NMOSD.

The researchers found that serum IL-27 and serum IL-35 levels were lower in individuals with NMOSD than the control group. They also found that serum IL-27 and serum IL-35 levels were similar among individuals who were anti-aquaporin 4 (AQP4) positive and those that were negative. When they separated AQP4 positive people from AQP4 negative people, they found that serum IL-35 levels were significantly lower in AQP4 positive individuals than the control group. While not statistically significant, IL-35 serum levels were lower in AQP4 negative individuals compared to the control group as well. Both IL-27 and IL-35 were below detectable levels in the CSF of people with NMOSD and controls.

After data were collected for serum levels, the researchers performed various statistical analyses in order to know whether the correlation between serum levels of IL-27 and IL-35 and disease severity or corresponding MRI indications were statistically significant.

The study participants showed a negative correlation between levels of IL-27 and disease severity and spinal cord lesion length. This means that as the levels of IL-27 decreased, the disease severity and spinal cord lesion length increased. In addition, researchers saw that levels of IL-35 had a negative correlation between disease severity and annual relapse rate.

The researchers thus concluded that the levels of these two interleukins are decreased in patients with NMOSD, which ultimately means these may be involved in the pathology of NMOSD. The researchers speculate these interleukins may be important in mechanisms that reduce inflammatory responses based on the way they play a role in NMOSD. Dr. Benjamin Greenberg from the University of Texas Medical Center noted that one possible issue with this study is that the individuals in the study were treated with steroids, so it may be possible that the levels of these cytokines may be lower because of the steroids and not because of the NMOSD disease process. Additional studies could control for immunosuppressive treatment.

Original research:  Zhang DQ et al. Decreased serum IL-27 and IL-35 levels are associated with disease severity in neuromyelitis optica spectrum disorders. J Neuroimmunol. 2016 Apr 15;293:100-4.

New Study on Scrambler Therapy for the Treatment of Neuropathic Pain in NMOSD

Chronic neuropathic pain can be a debilitating symptom of damage to the spinal cord that occurs in transverse myelitis, neuromyelitis optica spectrum disorder, and acute disseminated encephalomyelitis. Treatment for neuropathic pain includes medications such as antidepressants, antiepileptic drugs, opioids, and patches/creams, physical therapy, psychological therapy, and stimulation techniques. Despite using many of these treatment options, some individuals still experience chronic neuropathic pain, so additional research is needed to develop new treatments.

Scrambler Therapy was developed by Giuseppe Marineo, a biophysicist.1 This therapy is thought to re-organize the pain system. It does this through transcutaneous electrical stimulation that activates C fibers. C nerve fibers carry sensory information and are thought to play a role in neuropathic pain. Scrambler Therapy’s electrical stimulation replaces the pain signals with “non-pain” signals, and it is thought that this retrains the brain to think areas that are painful are not painful anymore.1 This therapy has been studied as a treatment for chronic neuropathic pain in chemotherapy-induced peripheral neuropathy, post-herpetic neuralgia and post-surgical neuropathic pain. In these studies, patients report sustained relief after undergoing daily treatment sessions for 10 consecutive weekdays.

To study this therapy in individuals with neuromyelitis optica spectrum disorder (NMOSD), Dr. Michael Levy and his team at the NMO Clinic at Johns Hopkins are conducting a randomized single blinded, sham-controlled trial of patients with NMOSD who have central neuropathic pain. They will use Scrambler Therapy and patient reported outcomes to determine if Scrambler Therapy is a feasible and effective add-on treatment of chronic neuropathic pain.

This trial will recruit twenty-two adult patients diagnosed with NMOSD who have chronic neuropathic pain despite empiric treatment with an anti-epileptic, antidepressant, opioid and/or an NSAID medication. Patients will be randomized 1:1 to undergo Scrambler Therapy or blinded sham daily for 10 days. The sham group will serve as the “control” group and will not receive the therapy, although they will not know that they are not receiving the therapy. The control group and the experimental group’s outcomes will be compared to assess the efficacy of the treatment. This study is randomized, meaning the researchers will randomly select who is in the control group and who is in the group receiving Scrambler Therapy. This is done to increase the chances that the effects seen in the study are the result of the treatment and not other factors.

The primary outcomes of the study will be acceptability and feasibility. The secondary outcome will be efficacy. This will be measured as a change in pain scores of more than two points recorded daily by the patient using an 11-point visual analog scale. Quality of life (QoL), neurologic function, anxiety, depression, sleep disturbance, and pain will also be evaluated at baseline, at the end of therapy, and at 4 and 8 weeks following completion of treatment. It is hypothesized that Scrambler Therapy will be an acceptable, feasible, and efficacious intervention that significantly reduces pain in patients with NMOSD.

For more information on the study and how to participate, click here: You can also contact the research team by phone (410-502-8672) or email ([email protected]).

Are you interested in getting updates on new research opportunities? Please fill out this form to be notified of new research studies:


  • Majithia N, Smith TJ, Coyne PJ et al. Scrambler Therapy for the management of chronic pain. Support Care Cancer. 2016 Jun;24(6):2807-14.

Clinical biomarkers differentiate myelitis from vascular and other causes of myelopathy

Barerras et al. recently published a study in which they analyzed the clinical presentation, spinal cord MRI findings, and cerebrospinal fluid (CSF) features of patients who were initially diagnosed with transverse myelitis (TM). Their goal was to see how these characteristics may help differentiate inflammatory myelopathy (TM) from other causes of myelopathy.

Myelopathy is a general term used to describe a disease of the spinal cord. Myelopathy can be caused by inflammation, as is the case with transverse myelitis, but myelopathy can be caused by cancer (neoplastic), vascular issues (related to blood vessels), compression (spondylotic), or metabolic issues (for example, B12 deficiency). In a podcast about the study, Dr. Carlos Pardo expresses the importance of making the distinction between myelopathy versus TM to avoid an incorrect diagnosis of TM and, most importantly, immunosuppressive treatments that are not truly indicated.

In order to investigate effective approaches to making a definite TM diagnosis, 457 patients with a newly established diagnosis of TM who were referred to the myelopathy center between 2010 and 2015 were included in the study. 58% were female (n=265), with a median age of 46 years.

First, they looked at how specific characteristics were associated with different myelopathies. These myelopathies were

  1. inflammatory myelopathy (IM)
  2. vascular myelopathy (VM)
  3. spondylotic myelopathy (SM)
  4. other causes of myelopathy (OM)

The characteristics they looked at were demographic/medical histories, clinical presentations, neurologic examinations, MRI findings, and CSF findings.

After looking at the clinical, MRI, and CSF characteristics of the participants, 55% of 457 patients (n=247) were classified as true inflammatory myelopathy, 20% (n=92) were reclassified as vascular myelopathy, 8% (n=35) as spondylotic myelopathy, and 18% (n=83) as other myelopathy.

Their analysis showed that a shorter time between symptom onset and when an individual’s symptoms were at their worst was associated with different types of myelopathies. IM’s temporal profile most often was subacute (between 49 hours and 21 days between onset and symptoms being at their worst), while VM’s temporal profile was most often hyperacute (less than 6 hours).

The researchers emphasize the importance of biomarkers and minute aspects of a patient’s medical history, family medical history, and the temporal progression of symptom onset for accurate diagnosis of inflammatory myelopathy. As stated by Dr. Pardo in the podcast, the literal “clinical dissection” of a patient’s clinical presentation, combined with past medical history and diagnostic MRI imaging is paramount for successful diagnosis of true myelitis of inflammatory origin.

The study analyzed the inflammatory group as one category, which as the authors state “…may not reflect important differences among specific etiologies within the inflammatory group such as MS vs NMOSD or NMOSD vs sarcoidosis myelopathy as has been shown previously.” Also, because the study took place at a referral center for myelopathies, and because the center often receives patients who may be difficult to diagnose, it is possible that these cases may be overrepresented in the study, and that these findings may not be entirely reflective of the larger population of individuals with inflammatory myelopathy.

You can learn more about the study from Dr. Carlos Pardo’s presentation at the 2017 Rare Neuroimmune Disorders Symposium:

Article: Barreras P, Fitzgerald KC, Mealy MA et al. Clinical biomarkers differentiate myelitis from vascular and other causes of myelopathy. Neurology. 2018 Jan 2;90(1):e12-e21. doi: 10.1212/WNL.0000000000004765. Epub 2017 Dec 1.

Full text:

Podcast featuring an interview with Dr. Pardo about this publication:

The Pauline H. Siegel Eclipse Fund

Last week, we published a blog about the first FDA sanctioned cell therapy to promote repair through myelin regeneration in Transverse Myelitis, which is set to begin in 2018. We are extremely excited about this study, and are so happy that you are excited as well!

This study requires funding. The CONQUER program at UT Southwestern secured a one and a half million-dollar gift to fund the clinical portions of the phase I trial. SRNA has been working through The Pauline H. Siegel Eclipse Fund to raise money to cover non-clinical costs of the trial. If we raise all the money needed, we expect to begin enrollment in mid-2018. Every dollar you donate to The Eclipse Fund will be matched by a generous donor up to $150,000.

The Eclipse Fund was established in memory of Pauline H. Siegel. Pauline sadly passed away on Tuesday, August 15, 2017. It was Pauline’s 1994 diagnosis of TM that catalyzed the formation of SRNA. For over 20 years, she worked with her husband and SRNA President, Sandy Siegel, to educate, support and inspire others in SRNA community. Despite the difficulties she faced, Pauline always managed to see and feel the blessings of her experience, and never lost hope for a better tomorrow. Pauline lived her life trying to improve the future of other people with TM and other rare neuroimmune disorders – NMOSD, ADEM, ON, and AFM. She was a powerful advocate, and touched us all with her compassion and vitality.

Pauline’s is a legacy of hope and, in her name, we will drive research forward to find a cure for rare neuroimmune disorders and enable spinal cord repair. To learn more about The Pauline H. Siegel Eclipse Fund, please watch the video below:

The fund will be used to support and accelerate SRNA’s research portfolio to fund discoveries that will directly impact the quality of life for the members of our community. The Pauline H. Siegel Eclipse Fund will drive critical research to:

  • Restore Function The first FDA approved cell therapy to promote repair through myelin regeneration in Transverse Myelitis is set to begin in 2018. The Siegel Rare Neuroimmune Association, Q Therapeutics, and The University of Texas Southwestern are collaboratively sponsoring this first human safety study to treat central nervous system disease.
  • Identify Genes and Causation Research at Johns Hopkins University has shown a gene mutation (VPS37A) that is currently known to be present only in Transverse Myelitis patients. The Eclipse Fund will support the validation of this gene and its role in causation.
  • Improve Diagnosis Biomarkers and novel imaging techniques, once identified and validated, help accurately diagnose myelitis in the acute phase. Recent studies funded by SRNA and conducted by the Rare Genomics Institute and The Johns Hopkins Transverse Myelitis Center have revealed an antibody in TM patients that needs further investigation and has the promise of unveiling more details about the biology of the disorder.
  • Investigate Novel Therapies The Eclipse Fund seeks to fund the development of scientific models of disease that can be used to test existing drug therapies. The goal is to ensure that all potential therapies for restoration and repair are investigated.

Are Remyelination Strategies Realistic?

At the 2017 Rare Neuroimmune Disorders Symposium, Dr. Benjamin Greenberg from the University of Texas Southwestern Medical Center gave a talk about remyelination strategies and announced the beginning of a Phase I trial in transverse myelitis. This is the first FDA sanctioned cell therapy to promote repair through myelin regeneration in Transverse Myelitis, which is set to begin in 2018. The University of Texas Southwestern, Q Therapeutics, Inc. and The Siegel Rare Neuroimmune Association are collaboratively sponsoring this first human safety study to treat central nervous system disease.

How did this trial become reality?

Dr. Greenberg presented the stages of clinical research. The first step is preclinical development to develop the agent, whether it’s a cell or a molecule that then has to be tested for efficacy. The next step is to prove that there is no obvious or expected toxicity from that therapy. This preclinical development can literally take years or even decades to complete. In the United States, regulatory approval is required through the FDA where they grant what’s called an IND, or an Investigational New Drug application. A phase I trial is primarily meant to measure safety. As long as we make sure an intervention is safe, then phase II and phase III studies get approval to market that therapy to the rest of the world.

How does this cell therapy remyelinate?

Q therapeutics developed a glial-restricted precursor cell that develops into oligodendrocytes. Oligodendrocytes are cells that produce myelin, the insulation around nerves. In mice that are born with nerve cells without myelin, these cells have been shown to produce myelin.

Where are we now?

UT Southwestern and Q Therapeutics, with input from SRNA, collaborated and put in an IND application to the FDA, that was granted in July 2017. This means the FDA gave us approval to move into human remyelinating trials for transverse myelitis in a Phase I trial. This type of study requires funding. The CONQUER program at UT Southwestern secured a one and a half million-dollar gift to fund the clinical portions of the phase I trial. SRNA has been working through The Pauline H. Siegel Eclipse Fund to raise money to cover non-clinical costs. If we raise all the money needed, we expect to begin enrollment in mid-2018. The phase I trial will include nine non-ambulatory adult transverse myelitis patients who are more than a year out from their diagnosis.

How can you get involved?

If you are interested in learning more about this trial and other research, please fill out this form. You can also contribute to The Pauline H. Siegel Eclipse Fund to raise money to cover the cost of the trial. Every donation received will be matched dollar for dollar up to $150,000 by a generous anonymous donor.

What is Anti-Myelin Oligodendrocyte Glycoprotein (MOG)?

As researchers continue to study disorders like neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS), we are learning more and more about factors that contribute to the disease processes seen in these conditions. For example, demyelination from MS is thought to be caused by the activation of white blood cells called T cells (and maybe B cells), while most cases of NMOSD involve antibodies to aquaporin-4 (anti-AQP4 or NMO-IgG). There has recently been more discussion about Myelin Oligodendrocyte Glycoprotein or MOG, and its relationship to NMOSD. Although MOG’s exact function is not fully known, it is thought to be an important glycoprotein that influences the myelination of nerves in the central nervous system. Anti-MOG antibodies have been found in individuals diagnosed with NMOSD who do not have antibodies to AQP4, in acute disseminated encephalomyelitis, transverse myelitis, and optic neuritis. Those with anti-MOG NMOSD tend to have attacks most often in the optic nerve, or optic neuritis (ON), but can also present with inflammation in the spinal cord (transverse myelitis) and brainstem.

Recently at The European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) annual meeting, there was a discussion about anti-MOG and whether it should be its own diagnostic category or another variant of NMOSD. Dr. Douglas Sato of the Brain Institute of the Rio Grande do Sul in Porte Allegre, Brazil, argued that there are enough differences between anti-MOG disease and NMOSD, and proposed that it be called MONEM, an acronym for “anti-MOG associated optic neuritis, encephalitis and myelitis (MONEM).” In contrast, Dr. Roman Marignier of the Hospital Pierre Wertheimer of Lyon University Hospital in France argued that anti-MOG disease is a variant of NMOSD that occurs without antibodies to AQP4. His argument was that patients with anti-MOG and patients with anti-AQP4 disease have similar cerebrospinal fluid characteristics, clinical characteristics, MRI characteristics, and the same acute and long-term treatment options.

Another presentation at ECTRIMS described a study that followed 33 children and 26 adults who were anti-MOG-positive over an average of five years. Researchers from the Kids Research Institute at the Children’s Hospital at Westmead in Sydney, Australia, found that 54% of all patients developed optic neuritis as their first disease sign. They found that the individuals in the study responded well to steroids, but relapsed when steroids were stopped. They found that their study participants had reduced relapse rates when they were on maintenance steroids, intravenous immunoglobulin (IVIg), or immunosuppression with rituximab or mycophenolate. 

Participate in Research on anti-MOG

Dr. Michael Levy and the NMO lab at Johns Hopkins University are developing tests for Anti-MOG (myelin oligodendrocyte glycoprotein) disease. They are especially looking for participants with recurrent clinical events of optic neuritis and/or transverse myelitis with either a negative anti-AQP4 antibody test or a positive anti-MOG antibody test from another lab.

Understanding Disability Identity and Implications for Future Study

SRNA Board Member and Paralympian Dr. Anjali Forber-Pratt and her colleagues recently published a systematic review of studies on disability identity development. In past years, psychologists and researchers have developed models of both identity development and disability identity development. Dr. Forber-Pratt is interested in how individuals develop their disability identity, and believes this research could be critical in developing support systems for individuals with disabilities and the greater disability community. By conducting a review of existing articles, the researchers aimed to provide individuals with disabilities, community leaders, special educators, counselors, psychologists, and the disability community with more information on the process of disability identity development.

The researchers searched academic journal article databases for their search of studies. Results were limited to peer-reviewed articles written in English between 1980 and 2017. Of the 144 articles they found, 41 were included in the researchers’ review.

The researchers’ review yielded two main findings. First, disability identity shapes the way individuals see themselves, their bodies, and interactions with their surroundings. People with disabilities not only have to navigate physical components of their disability but also what social meaning is attributed to that disability. These physical and social aspects combine to form a person’s disability identity, which should be considered both in relation to other intersectional identities (such as LGBTQ, racial identity, cultural identity, etc.) and independent of other aspects of identity. The second finding from this review is that disability identity development has been studied mainly through qualitative measures rather than quantitative measures. Larger scale studies that use a more comprehensive approach are needed to better understand disability identity development. Support is needed for research that spans across different disability groups to better understand the effects of multiple disabilities on a person’s development of disability identity.

This literature review highlights the need for awareness of disability identity development, especially for individuals and organizations that impact the lives of people with disabilities. This is especially true of rehabilitation professionals, educators, and caregivers, who are often able-bodied which can cause tension and cause the person with a disability to seek out support independently. Additionally, with more research, we can gain a better understanding of disability identity development and create interventions that better assist individuals who are in the process of developing a disability identity. Another finding of this literature review is that disability identity includes both an acceptance of one’s disability as well as involvement with the disability community. Large-scale, community level research is needed to learn more about the role the disability community plays in identity development.

There are barriers that can prevent people with disabilities from participating in research. For example, people may be reluctant to participate in research or may not have access to materials. Some people may not wish to be identified with having a disability at all. Also, there were few studies which included individuals with higher support needs, such as those with adaptive communication devices or those who have more than one co-occurring disability. These barriers are representative of the struggle people with disabilities face with accessibility and social stigma.

Forber-Pratt AJ, Lyew DA, Mueller C, Samples LB. Disability identity development: A systematic review of the literature. Rehabil Psychol. 2017 May;62(2):198-207. doi: 10.1037/rep0000134. Epub 2017 Apr 13.

How to Participate in Genetic Study of Transverse Myelitis

Earlier this summer, we published a blog post about a rare genetic mutation found in familial transverse myelitis. The mutation, named VPS37A, was discovered in two sisters who were both diagnosed with TM at different points in their life. Dr. Michael Levy screened an additional 86 TM patients and found another patient with the same rare mutation. According to Dr. Levy, “It is statistically beyond coincidence to find three human beings with this same rare genetic mutation unless it has something to do with the rare disease they all share, TM.”

Dr. Levy and his colleagues at Johns Hopkins University have recently been awarded a research grant from SRNA to continue studying this genetic mutation in TM patients. The study will be conducted by collecting DNA samples from consenting participants using saliva kits. Dr. Levy hopes to recruit TM patients from across the United States and potentially worldwide. Travel will not be required to participate in this study as the saliva kits can be mailed, and clinical information can be provided electronically.

Dr. Levy will be conducting on-site DNA sample collections at SRNA’s 2017 Rare Neuroimmune Disorders Symposium (RNDS) in Columbus, OH on October 20th-21st, so participation in the study will be accessible to all who attend. Please indicate your research interests when you register for the RNDS.

The potential implications of this study are vast, as this is the first finding of a genetic cause of transverse myelitis. Although the study may yield only a small percentage of TM patients with the VPS37A genetic mutation, it can still help researchers learn about other cellular and immunological mechanisms that play a part in transverse myelitis.