Preliminary Findings from The SRNA Registry

In 2017, SRNA created a patient registry. The purpose of the registry is to help advance research about rare neuroimmune disorders, collaborate with researchers from around the world, and identify participants for clinical trials. Many of our members have shared information about their diagnosis, treatment, and outcomes over the years.  The information our community has shared continues to help us guide our programs and research, and we are grateful to all who have participated.

The SRNA registry has been designed to learn more about the natural history of rare neuroimmune disorders, treatments, and outcomes using standardized tools. In June of this year, we reviewed the data from the registry to analyze trends and identify points for follow-up examination and research. Below are some of the preliminary findings.

As of June 2020, there were 496 participants in the registry. 74% of respondents were diagnosed with transverse myelitis, 9% were diagnosed with neuromyelitis optica spectrum disorder, 5% were diagnosed with acute disseminated encephalomyelitis, 4% were diagnosed with acute flaccid myelitis, 4% were diagnosed with MOG antibody disease, and 2% were diagnosed with another disease or have yet to receive a diagnosis.

40% of participants in the registry were diagnosed less than one week after symptom onset, 22% were diagnosed within 1-3 weeks, and 7% were diagnosed within 4-6 weeks. 30% of participants received a diagnosis more than six weeks after symptom onset. 1% were unsure or did not know how long it took to receive a diagnosis.

84% of participants received treatment after their first acute attack. However, only 30% of participants received a second treatment that was different than the first, and 11% of participants were unsure or did not know if they received a second treatment. Most (80%) participants received rehabilitative therapy.

For current symptoms, 82% of participants currently have weakness or paralysis, 81% of participants currently have numbness or loss of sensation, and 64% of participants have spasticity or uncontrolled muscle spasms. 54% experience neck or back pain, 77% of participants experience neuropathic pain, and 71% of participants have bladder and/or bowel symptoms.

These results show that the majority of patients did not receive a quick diagnosis (less than a week) after their onset of symptoms, which can delay the administration of acute treatments. Time is critical in the early stages of a rare neuroimmune inflammatory attack, so quicker diagnoses are needed to start acute treatments and prevent damage to the central nervous system. Further, less than one third of participants in the registry received a second acute treatment during their initial inflammatory attack. While more research is needed to determine the effectiveness of a second form of acute treatments, steroids, plasmapheresis (PLEX), IVIG, and cyclophosphamide have all been used during the onset of these disorders.

Rehabilitation is important for restoring function following a rare neuroimmune diagnosis. While 80% of the participants received rehabilitative therapy, 20% of participants did not receive any rehabilitation following their diagnosis. Further advocacy is needed to educate physicians and medical professionals on the importance of rehabilitation following these disorders.

The majority of participants experience lasting symptoms following their diagnosis of a rare neuroimmune disorder, including weakness, paralysis, numbness, pain, spasticity, bladder dysfunction, and bowel dysfunction. While there are currently a variety of methods for treating these symptoms, more research is needed to improve the quality of life for these individuals and find stronger solutions for symptom management.

If you would like to participate in the SRNA Registry, please visit the study page to learn more and fill out this form to sign up.

Cytokine biomarkers associated with acute flaccid myelitis

Original publication: William C. Weldon, Kun Zhao, Heather A. Jost, Kimbell Hetzler, Jessica Ciomperlik-Patton, Jennifer L. Konopka-Anstadt, M. Steven Oberste. Cytokine biomarkers associated with clinical cases of acute flaccid myelitis. Journal of Clinical Virology 131 (2020) 104591.

Acute Flaccid Myelitis (AFM) is a neurological condition characterized by a rapid onset of flaccid muscle weakness, with associated abnormalities on imaging of the spinal cord (MRI). This disease predominantly affects the gray matter of the spinal cord in children and is usually preceded by a febrile illness which has been linked to an infectious disease produced by a respiratory virus, enterovirus D-68. Weldon and his colleagues recently published in the Journal of Clinical Virology, an analysis of the expression of immune proteins called cytokines and chemokines in patients affected by AFM. Cytokine and chemokines are mediators of inflammation as they regulate the function and trafficking of immune cells in the body and are particularly important during stages of inflammation or response to infections. They are particularly important for the understanding of AFM as they may play a role in the process of inflammation that targets the spinal cord.

The investigators tested paired samples of cerebrospinal fluid (CSF) and serum obtained from 70 confirmed AFM patients as defined by the CDC criteria and 47 non-AFM control subjects with other diseases. The goal of the study was to determine if there are any specific signals that distinguish the cytokine and chemokine response observed in patients with AFM as compared with controls, responses which may provide clues about the pathogenesis of AFM. All cases of AFM were defined as ’confirmed’ when magnetic resonance imaging (MRI) showed predominantly gray matter lesions spanning at least one or more segments of the spinal cord –, and

The study analyzed the levels of these cytokines and chemokines in confirmed AFM and non-AFM patients, and also compared between limb weakness vs. no limb weakness and those who were positive for enterovirus and not. The study found several cytokines that were observed to be increased in the CSF of AFM-positive patients compared to non-AFM cases which were unique to those samples positive for enterovirus and limb weakness.  Two pro-inflammatory cytokines/chemokines called IP- 10 and IL-6 were significantly elevated in AFM patients compared to non-AFM patients.

In the central nervous system, IP-10 has been associated with other illnesses induced by viral infections, and elevated IL-6 is expressed in neuroimmune conditions such as neuromyelitis optica spectrum disorder and also has been shown to be high in viral infections of the CNS such as Zika virus. The findings of the study by Weldon and collaborators add further evidence of the active and aggressive inflammatory damage the spinal cord suffers in patients affected by AFM. While there were limitations in the study sampling and unmatched controls were used, the results of the study reveal the need for further examination of the pathogenic mechanisms leading to the extensive damage of motor neurons that affect AFM patients. Future prospective natural history studies of AFM may need to confirm these preliminary observations to determine if the modulation of these specific cytokines/chemokines may be of therapeutic value and also to investigate with more detail the role that cytokines and chemokines may play in the mechanisms that lead to spinal cord damage in AFM.

This summary of the peer-reviewed publication in Journal of Clinical Virology was reviewed by Dr. Carlos A. Pardo, Professor of Neurology at Johns Hopkins University and Director of the Johns Hopkins Myelitis and Myelopathy Center and includes his views on the importance of this study.

Alexion to Begin Soliris Trial for Pediatric Patients with NMOSD

Alexion Pharmaceuticals is conducting a Phase 2/3 study to evaluate the safety and efficacy of eculizumab (Soliris) specifically in pediatric participants with relapsing neuromyelitis optica spectrum disorder (NMOSD).

This study is an interventional, open-label, single-arm trial for pediatric individuals aged 2 to 17 years with anti-aquaporin-4 antibody-positive NMOSD. It is open to participants in Japan, Korea, Spain, and the United States. All locations are currently recruiting except Korea at the time of this writing.

Dosing of eculizumab will be based on the participant’s body weight, and as such, as weight may change, so may the participant’s weight cohort and dosing. Beginning with a weight-based weekly dose of eculizumab during an induction phase, participants will receive intravenous infusion every two weeks during the Primary Treatment Period for a total of 52/53 weeks. After completing the Primary Treatment Period, participants may continue to receive eculizumab in the Extension Treatment Period for 104 weeks.

Notable inclusion criteria in addition to the anti-AQP4 antibody positivity and a confirmed NMOSD diagnosis, participants must be age 2 to 17 years (must be less than 18 years) and with a bodyweight greater than or equal to 10 kilograms (or 22.0462 pounds). Participants should have experienced at least two relapses in the past two years, with at least 1 of the relapses occurring in the past year before screening. Those who participate in the study and also receive supportive immunosuppressive therapies to prevent relapse, whether in combination or as a single therapy, must be on a stable dosing regimen for a long enough amount of time.

Exclusion criteria include those with unresolved or chronic infections that have not been appropriately treated with antibiotics, or prior to screening have used rituximab or other biologicals within six months, mitoxantrone within three months, IVIG or plasma exchange (PLEX) within three weeks, or immunomodulatory therapies for multiple sclerosis (MS) within three months.

Those interested in this study may find the full inclusion/exclusion criteria here and here and should contact Alexion Pharmaceuticals by phone, +1 855-752-2356, or by email at

Ignition Survey for MOGAD Results

In Spring 2020, The MOG Project partnered with the Siegel Rare Neuroimmune Association and The Sumaira Foundation for NMO to understand treatment practices among those with MOG antibody disease (MOGAD). The intention of the survey was to learn from the MOGAD community experience and share results with physicians and each other.

267 individuals with MOGAD and their caregivers completed a survey asking a range of questions regarding acute and preventive treatments and their associated side effects. 89% of respondents had been prescribed an acute treatment during their most recent attack/relapse, the most commonly prescribed being IV Steroids (86%) followed by Oral Steroids (50%). Nearly 70% of those diagnosed with MOGAD are currently on a preventive treatment. Rituximab (45%), Mycophenolate Mofetil (25%) and IVIG (25%) were cited as commonly prescribed preventive treatments. Side effects were common, with 66% of respondents reporting side effects from their acute treatments. 49% of those on Rituximab, 32% on Mycophenolate Mofetil, and 53% on IVIG reported side effects from their treatments.

It is important to note that this respondent pool may skew towards patients with more severe cases of MOGAD, as these people may have been more likely to respond to the survey. You can view the detailed survey results here. Special thanks to the members of the MOGAD community and their caregivers for participating in this survey. It is our hope that these survey results help those affected by MOGAD know they are not alone; ours is a shared experience as a community.

Update on UT Southwestern Q Cell Stem Cell Trial in Transverse Myelitis

During these unprecedented times of COVID-19 we have fielded many questions about the impact of the pandemic on our clinics, health care systems and patients. I hope everyone has been able to stay safe during these days of isolation and social distancing. While I am confident that a solution to the COVID-19 pandemic will be found, the impact of these events will be felt for years.

Beyond the personal health impacts, economic impacts and changes to our medical system, the pandemic has dramatically impacted basic science and clinical research efforts across the world. The UT Southwestern Q Cell Stem Cell trial is included. Since the mandates to enact social distancing were put into effect, basic science labs and clinical trials were paused. Thus, we have been unable to proceed with our first surgery as planned. Based on the number of questions received, we wanted to provide this update to our community.

We have received FDA clearance to proceed with this phase one trial in paralyzed TM patients. The trial currently plans to enroll nine patients for the surgical implantation of Q Cells. This is a safety study with many regulatory requirements, including a requirement focused on training the surgical team to perform the procedure with novel technology. As we worked during the year to get complete licensing and credentialing requirements for the team, the COVID-19 pandemic began, halting plans for first enrollment and surgery.

Nevertheless, we are preparing to reopen for research at UT Southwestern. As such, we continue to work to identify the nine candidates for this clinical trial. Those interested can find information on the SRNA website. We appreciate your support during these difficult times and remain excited about what lies ahead.

Benjamin M. Greenberg, MD, MHS, FANA, FAAN
Director, Perot Foundation Neurosciences Translational Research Center
O’Donnell Brain Institute
University of Texas Southwestern
Board of Directors, Siegel Rare Neuroimmune Association (Formerly the Transverse Myelitis Association)

Dr. Greenberg has received funding from the SRNA and serves as an unpaid member of the board of the SRNA.

Case Report: Transverse Myelitis following COVID-19

A case report was recently published of a 60-year-old man who received a diagnosis of transverse myelitis after infection with SARS-CoV2, which is the coronavirus that has been spreading throughout the world. He was admitted to the hospital with respiratory symptoms and was given a throat swab test that showed he was positive for the virus. He recovered from COVID-19 pneumonia and was sent home after five days. Three days later, he was unable to urinate and had weakness in his legs. The man was unable to walk unassisted and had other signs of spinal cord dysfunction. An MRI of his spine showed a lesion at T9 consistent with myelitis. He had no lesions in the brain. He had a spinal tap which showed that his cerebrospinal fluid had an increased cell count and protein levels, also consistent with myelitis. The coronavirus (SARS-CoV2) was not found in his cerebrospinal fluid, and all other testing for other bacteria and viruses was negative.

He was treated with an intravenous antiviral medication and an antibiotic, but this treatment was stopped after 8 days when no infectious agents were found in his cerebrospinal fluid. He improved slightly after three days. On the 7th day, he was given a lower dose of steroids than is typically given in transverse myelitis because of the known prior infection with the virus. He then improved rapidly. He was discharged after 13 days with some sensation impairments, but he had normal bladder function and was able to walk independently. The authors of the report believe this was not the case of a direct infection of SARS-CoV-2 into the spinal cord, but an overreaction of the immune system to the virus (i.e., post-infectious myelitis).

We will continue to monitor cases of neuroimmune issues after COVID-19 and will share with our community as we hear about them. For additional information, please visit our COVID-19 page.

Munz M, Wessendorf S, Koretsis G, et al. Acute transverse myelitis after COVID-19 pneumonia. J Neurol. 2020 May 26;1-2.

Survey about Disability Identity Development

Over the past five years, Anjali Forber-Pratt, PhD, has been working to develop and validate a measure of disability identity development. While the study has made a lot of progress, it is in need of another sample of approximately 1,000 individuals with disabilities to complete the reduced set of items. This is a one-time email as we would like to invite you to participate in the study by taking the following survey, which contains a significantly reduced set of questions:

The survey will take no more than 20 minutes to complete and contains basic questions about yourself, your disability, your interactions with others, your involvement with the disability community and perceptions about your identity. If you choose to participate, you may enter your contact information (or you may opt out by not entering it) to enter a drawing for a $100 Amazon gift card. Three gift cards will be drawn. Your participation in this study is voluntary. In order to be eligible to participate in this study, you must be:

  • 18 years of age or older
  • Identify as having a disability (visible or hidden)
  • Able to reliably complete self-report measures in English
  • Living or residing in the United States

Thank you for your consideration! Feel free to share with others who may be eligible to participate. Email with any questions.

Anjali J. Forber-Pratt, Ph.D. is an Assistant Professor at the Department of Human & Organizational Development at Vanderbilt University. Her research agenda adopts a social-ecological framework and looks at issues surrounding identity, equity and empowerment through methodology for individuals who are different in some way, with a large focus on disability. She completed her degrees at the University of Illinois. Dr. Forber-Pratt is a Paralympic medalist and currently serves as a member of the Board of Directors of SRNA.

AFM Diagnoses of 2018 – An Urgent & Important Request

Centers for Disease Control and Prevention (CDC) is conducting a case series activity by attempting to interview all confirmed 2018 Acute Flaccid Myelitis (AFM) patients and their families with a standardized questionnaire. The detailed questionnaire includes questions about exposures, illness just prior to onset, and healthcare-seeking behavior prior to limb weakness. CDC’s Institutional Review Board (IRB) package allows three months for data collection, and the last day for interviews is September 11, 2019. CDC is working through state and local health departments to conduct the interviews, and as of the third week of August, they have completed questionnaires for approximately 1/3 of the 233 cases in 2018. CDC and state and local health departments are making a limited number of phone calls and sending a text message to families.

If you or your child are one of those impacted by AFM in 2018, we encourage you to respond quickly to the call you have received or will receive from CDC or your local health department. If you’ve made an appointment for an interview to be conducted, please be available at the time you’ve scheduled. If you are a provider or a friend of a family impacted in 2018, please check with the family to see if they have reached back out in response to the call or text they may have received. The interviews are critically important in understanding the etiology and impacts of AFM. The findings will assist in assessing risk factors, establishing prevention measures, and developing treatments. Our hope is that every one of the 233 families will respond and have their stories heard by CDC. Your time, your story, and your family matters. Your contribution in sharing your story with CDC will assist all of us as we move forward and focus on what must be done in the future for all of those diagnosed with AFM. As an organization dedicated to awareness and research of this devastating disorder, we sincerely appreciate your participation and spreading the word about this important activity. If you have any questions, please feel free to reach out to us at

SRNA-Supported Research at the 2019 American Academy of Neurology Annual Meeting

SRNA maintains our commitment to advancing the scientific understanding of and therapy development for AFM, ADEM, MOG Antibody Disease, NMOSD, ON, and TM. We are proud to announce that once again SRNA-supported research was presented at the American Academy of Neurology Annual Meeting, which was held from May 4th-10th in Philadelphia, PA.

Dr. Olwen Murphy, a current James T. Lubin Fellow, and a team at The Johns Hopkins Hospital presented research on sarcoidosis-related myelitis. The research was a retrospective study of patients diagnosed with sarcoidosis-related myelitis at the Johns Hopkins Transverse Myelitis Center. The goal of the study was to identify characteristic clinical, imaging and CSF features of sarcoidosis-related myelitis. They found that distinct imaging patterns occur in sarcoidosis-related myelitis and recognition of these features may aid in coming to a correct diagnosis. Most of the patients in the study had a long symptom evolution (81%), meaning it took more than three weeks from symptom onset to when symptoms were at their worst. Most had sensory symptoms (87%) and motor symptoms (53%). Enhancement patterns suggest that the blood-spinal-cord barrier may play a role in the development of sarcoidosis-related myelitis lesions. Dr. Murphy and colleagues also presented a case report on a 68-year-old man who presented with a 2-year history of severe muscle spasms in the lower back and pelvic region. The patient was ultimately referred to their clinic for evaluation of “treatment-resistant” stiff person syndrome after baclofen and benzodiazepines had no clinical effect. He was correctly diagnosed with an anterior disco-osteo-arterial conflict and underwent surgery to correct the problem. Six months post-surgery he reported marked improvement in his symptoms and increased exercise tolerance.

Dr. Jonathan Galli, another James T. Lubin Fellow, worked with Dr. Clardy on another research study about stiff person syndrome. The goal was to describe epidemiological characteristics, antibody status, and treatment outcomes of stiff person syndrome patients within University of Utah Health. Stiff person syndrome (SPS) is an autoimmune disease that classically causes severe muscle rigidity and spasms. They identified 31 patients with stiff person syndrome. Patients were predominantly female (78%). Some of their cohort had co-existing autoimmune diseases (63%) and malignancy (13%). Diazepam and baclofen was effective in a majority of patients. IVIg was the most commonly utilized immunotherapy (used in 69% of patients) with benefit demonstrated in 41% of patients who received this treatment. Dr. Galli and colleagues also presented a case series with the goal to describe atypical epilepsy presentations in patients with common variable immunodeficiency (CVID) within the University of Utah Healthcare system. Patients with CVID are at increased risk of infection, malignancy, and autoimmune disease. They presented a case series of 5 patients with CVID and co-existing epilepsy. All patients had atypical seizure symptoms including behavioral arrest, alterations in consciousness, and/or amnestic episodes. Most of the patients had improvement with antiepileptic therapy.

Dr. Cynthia Wang, a former James T. Lubin Fellow, and colleagues presented a case report of a 6-year-old boy with new-onset seizures and altered mental status associated with multifocal right hemispheric lesions resulting from primary CNS vasculitis. Primary CNS vasculitis is a rare vascular inflammatory brain disease. The child was treated with cyclophosphamide with gradual improvement in cerebral edema, and he also underwent cranioplasty four weeks after hemicraniectomy. He improved significantly over one month in inpatient rehabilitation and he regained the ability to ambulate independently. The researchers note that this case demonstrates an unusual presentation of this condition in a child. They also note that hemicraniectomy should be considered in patients with medically refractory increased intracranial pressure.

Dr. Benjamin Greenberg and colleagues also presented about the upcoming study to investigate the safety of the transplantation of human glial restricted progenitor cells into subjects with transverse myelitis. Funding and support for this trial has been provided via the UT Southwestern CONQUER Program, the Transverse Myelitis Association and Q Therapeutics. The primary objective of the study is to evaluate the safety of oligoprogenitor Q-Cells® transplantated into the posterior columns of the spinal cord in patients with Transverse Myelitis. A secondary objective of the study is to obtain preliminary data regarding the clinical activity of Q-Cells® in patients with TM. For more information about this study, visit the study page here.

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

Now Enrolling for Phase I Remyelination Trial using Q-Cells in Transverse Myelitis

A Phase I remyelination trial using Q-Cells in Transverse Myelitis conducted by the University of Texas Southwestern Medical Center (UTSW), Q Therapeutics, and The Siegel Rare Neuroimmune Association has just opened enrollment! The trial is designed to study the safety and efficacy of implanting cells that produce myelin into the spinal cord. It is the first study of its kind in transverse myelitis. You can read more about the study in UTSW’s press release.

Q Therapeutics developed a glial-restricted precursor cell, called a Q-Cell, that develops into oligodendrocytes. Oligodendrocytes produce myelin, the insulation around nerves, and other factors that are necessary for healthy Central Nervous System (CNS) function. The Q-Cells will be surgically implanted into the spinal cord at the level of a lesion. Participants will be followed for both safety assessments and multiple measurements to determine if the cells are inducing any level of repair. If you’d like to learn more about the study, please visit the FAQ page.

If you are a person diagnosed with transverse myelitis, are between one and ten years from your event, and you remain unable to walk, you may be eligible to participate. To sign up to participate in this trial, please fill out UTSW’s survey here. Please note that the study will enroll nine non-ambulatory adult transverse myelitis patients, so filling out the survey does not guarantee enrollment in the study. You can find more information on the study, including inclusion and exclusion criteria for participation, on on the study page here.

If you have any questions about enrollment in the study, please email us at