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 [email protected] 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 [email protected].

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 [email protected].

CAPTURE: An update to the long-term study of pediatric transverse myelitis and acute flaccid myelitis

By Rebecca Whitney, Pediatric Programs Manager at SRNA

In 2014, the Transverse Myelitis Association (SRNA) and seven clinics across North America, under the direction of Dr. Benjamin Greenberg at UT Southwestern Medical Center, began a research journey to follow pediatric transverse myelitis diagnoses. I honestly didn’t know what to expect from this new venture, having previously only been on the participation end of a research study, but knew in my heart of hearts that this study, CAPTURE, was incredibly valuable and would make an impact in the history of our children and families. I was ready to be a part of it, although it was difficult, often heartbreaking work. But, that’s also why I knew I needed to be a part of it. It is a matter of my heart and means something so incredibly personal to me as a parent of a young child diagnosed with transverse myelitis.

CAPTURE is the first of its kind – a prospective, observational study in pediatric transverse myelitis (TM) and acute flaccid myelitis (AFM). Designed to not only utilize the imaging and clinical diagnosis details from physicians, CAPTURE also collects information from the children and families themselves about their outcomes, relative to the treatments they received. Initially, study criteria required enrollment within three months of diagnosis. After listening to feedback from SRNA and parent community, Dr. Greenberg and his team changed the study’s enrollment to include patients who are within six months of diagnosis. Even for the most well-intentioned families vowing to help by participating in a research study, those first three months post-diagnosis are oftentimes so bewildering and surreal. We found we experienced a better enrollment rate and continued participation if we allowed families time to adjust to this new realm of medicine they suddenly found themselves in.

2014 also brought to light a “new variant” of TM that was popping up across the country – Acute Flaccid Myelitis or AFM. Due to the outbreaks of AFM, we found our correspondence with families and enrollment were increasingly with those experiencing AFM rather than TM. Regardless, the study remained open for both diagnoses, and we have continued to learn so much, often debated amongst clinicians and governmental entities, about the acute treatments that might provide the best outcomes for our children. CAPTURE has been and continues to be a critical part of the conversation and debate regarding acute treatments as it is an already established mechanism for collecting essential data and follows children’s progress for up to a year after their diagnosis. To date, we have enrolled 140 children into CAPTURE.

CAPTURE, through the work of SRNA and Dr. Greenberg’s team in Dallas, has been able to move forward and is still continuing to enroll new participants with TM and AFM within six months of diagnosis through our online cohort. This is incredible considering that when we began, the study was scheduled to end recruitment in 2018. The more information we can obtain, the clearer the way we move forward becomes – how we develop treatments and therapies, engage potential stakeholders, including government officials and entities, and ultimately, provide the best outcomes for children, or better yet, stop TM and AFM from even being a threat to our children. Even more incredible is the fact that recent IRB changes to CAPTURE will allow us to continue to hear from those children and families previously enrolled, should they so choose, through 2026!

Let’s think about this for a moment… By following current and future enrollees in CAPTURE through 2026, we will have 10 years – a decade – of real, patient-reported data. For some, this means when they report their recovery and outcomes, we will follow them into adulthood. We all know how quickly children grow and quite frankly, a diagnosis of a rare neuroimmune disorder can be starkly different for a child than an adult, including their recovery. What an excellent opportunity to impact change and the future of medicine related to these disorders!  As it stands right now, we can’t refer back to medical literature or history books and find what is to be done for a child amid an AFM outbreak. The potential for learning from our heart-wrenching experiences is astounding. As I sit here and watch my own child recover from major surgery as a result of his TM diagnosis, now almost 12 years out, how he’s doing today looks so different than what we thought or imagined 5 or 10 years ago, or even six months post-diagnosis. Since we are forced to face this diagnosis and the ramifications of what it means for his well-being, his growth, his mobility, his quality of life, then we are going to learn and grow from it, and hopefully, we can help other children and families as we do.

CAPTURE must and will continue for our children. We will continue to enroll those newly diagnosed within six months and into the long-term study. Those who were previously enrolled in CAPTURE will be contacted by Tricia Plumb of UTSW to see if they wish to extend their participation. I hope that each one of the 140 participants to date will consider the impact they may have on our community and future children by continuing to share their stories via the brief surveys. The aim is for each child/family to complete a survey and have a short, secure video chat with the study leader(s) every 4 months. If you or your child has been recently diagnosed or you’ve participated in CAPTURE and wish to extend your participation, please contact Tricia Plumb or me.

Oftentimes over the last few years, we’ve been contacted by families further out from six months, even years post-diagnosis, and have heard, “what about my child? What about her experience and her recovery?” If you or your child were diagnosed with TM or AFM before six months ago, your story, your recovery, your outcomes matter, too! A new study called CORE TM is available and currently enrolling participants, and it is similar to CAPTURE. For more information about CORE TM or to enroll, please do so via the SRNA Registry. You may also contact Tricia Plumb or me for more information.

For families of children diagnosed with Acute Disseminated Encephalomyelitis (ADEM) or whose diagnosis may have changed from TM to ADEM and are no longer eligible for CAPTURE, there is the possibility for study participation for you, too. APERTURE is currently enrolling and is also an observational study being conducted online. For more information on APERTURE, please contact me, Tricia Plumb, or Dr. Cynthia Wang.

Further to the opportunities noted above, the SRNA Registry is always available, and everyone with a rare neuroimmune disorder is invited to participate in the registry.

Vaccines and the association with relapses in patients with neuromyelitis optica spectrum disorder

A retrospective study was conducted to determine whether vaccinations were associated with an increased risk of relapse in patients with Neuromyelitis Optica Spectrum Disorder (NMOSD). Patient records were reviewed from three NMOSD centers: the Johns Hopkins NMO Clinic in Baltimore, USA, NeuroCure research Center at Charité University Hospital in Berlin, Germany, and Neuroclinica in Medellín, Colombia. All patients with comprehensive health records related to their NMOSD and who had follow-up information for at least 90 days after their most recent vaccination were included in this analysis.

In order to determine whether there was an increased risk of relapse following a vaccination, the researchers compared relapses that occurred 30, 60, and 90 days after vaccination with relapses that occurred within randomly selected dates. For the purposes of this study, relapses were defined as “a new or worsening acute neurologic symptom lasting 24 hours, associated with a change in exam localizing to the [central nervous system] CNS and not explainable by fever, infection or metabolic condition.” The NMOSD patients were divided into two groups: those who were taking preventative immunotherapy medication such as rituximab, mycophenolate mofetil, azathioprine, methotrexate, or prednisone, and those who were not on a preventative immunotherapy, which included patients who were taking glatiramer acetate and interferon beta, as these medications have been found to worsen or not be effective in NMOSD.

Ninety patients who received a total of 211 vaccinations were included in this study. The median disease course was 6.6 years, and 340 relapses had occurred during this timeframe. Intramuscular influenza was the most common vaccine received (61% of the vaccines received).

The researchers found that vaccines were not significantly associated with relapses among patients on preventive immunotherapy such as rituximab, mycophenolate mofetil, azathioprine, methotrextate, or prednisone. However, the researchers found that vaccines were significantly associated with relapses in patients who were not on preventive immunotherapy. Also, among patients on preventive immunotherapy, routine vaccinations were associated with lower annualized relapse rates.

There were 7 patients who relapsed within 30 days of a vaccination, 6 patients who relapsed 31-60 days after a vaccination, and 3 patients who relapsed 61-90 days after a vaccination, for a total amount of 16 patients experiencing relapses within 90 days after a vaccination. Five of the inflammatory attacks were at the disease onset and eleven were relapses that occurred later in the course of the disease. The highest proportion of vaccination-associated relapses were after tetanus/diphtheria vaccines, as 15% of patients receiving this vaccination relapsed within 90 days.

118 of the 211 vaccinations in this study were administered to patients who were on immunosuppressive therapy. Most (13 of the 16) patients who experienced relapses were not on immunotherapy, and one patient was on glatiramer acetate, which is not an effective treatment for NMOSD. The remaining two patients were on immunosuppressive treatment for an average duration of 47 months.

As stated above, the researchers found that routine vaccination was associated with an 81% lower risk of relapse in patients who were using preventive immunotherapy than patients who were not vaccinated after their initial disease onset. A possible explanation for this finding is that relapses can be triggered by immune system activation, and vaccinations help prevent infections that cause immune system activation, which results in fewer relapses.

The researchers suggest that individuals with NMOSD take preventive immunotherapy treatment prior to receiving any future vaccinations.

The authors of the study note several limitations to this study. For example, they did not include patients who received live attenuated vaccines, such as Japanese encephalitis and yellow fever vaccines, which have been associated with relapses in NMOSD. Additionally, few patients had received the HPV vaccine, which has been associated with relapses in case studies of NMOSD patients. The authors also had limited information and could not include data on the adjuvants that were used for each of the vaccines. Also, there were few aquaporin-4 negative patients included in the study, so additional studies should confirm these findings with aquaporin-4 negative patients. Lastly, there are inherent biases in retrospective data analyses, which could have influenced the results of this study. The study also did not look at vaccine-preventable infections, such as the flu, and their potential association with relapses. The results of the study should be understood within the context of these limitations and biases.

To address the issues with this study, the researchers suggest that there should be a comprehensive, well-controlled prospective study that investigates relapses, vaccines, and infections.

Mealy MA, Cook LJ, Pache F et al. Vaccines and the association with relapses in patients with neuromyelitis optica spectrum disorder. Mult Scler Relat Disord. 2018 Jul;23:78-82. doi: 10.1016/j.msard.2018.05.003. Epub 2018 May 7.

New Research on Epidural Electrical Stimulation in Spinal Cord Injury

Two research articles were recently published on the use of epidural electrical stimulation (EES) to help paralyzed individuals recover motor function. The first study was conducted by the Frazier Rehabilitation Institute and the Kentucky Spinal Cord Injury Research Center at the University of Louisville. It included four participants who had motor complete spinal cord injuries, meaning no motor function below the level of injury. Two of the participants had lost all sensation below their level of injury in the spinal cord, which is classified as AIS grade A, and the other two participants had retained partial sensory function below their level of injury, which is classified as AIS grade B. This grading system, The American Spinal Injury Association Impairment Scale (AIS), is used to describe and measure the severity and characteristics of a spinal cord injury. The second study was conducted by the Mayo Clinic Rehabilitation Medicine Research Center in Rochester, MN and included one participant who had a motor complete spinal cord injury and had lost all motor function below their level of injury.

In both studies, participants had received clinical rehabilitation after their spinal cord injury and were 2.5 to 3.3 years from when their injury was sustained. All participants received locomotor training at the start of each study, which lasted 8 to 22 weeks depending on the participant. The participants were then implanted with the EES system during a surgical procedure in which a 16-electrode array was implanted on the spinal cord and a spinal cord stimulator was implanted on the abdomen. After participants rested approximately three weeks, the EES system was tested to identify muscle groups in the legs using electromyographic (EMG) recording.

Next, participants in these studies received locomotor training with the aid of electrical stimulation. The participants practiced stepping on a treadmill, stepping over ground, and standing over ground. Participants used a body-weight support system (BWS), trainer assistance, and a walker when needed. They adjusted to not using these aids if progress was shown over the course of the training.

In the Frazier Rehabilitation Institute and the Kentucky Spinal Cord Injury Research Center study, the two AIS grade B participants were able to walk over ground while using assistive devices. The two AIS grade A participants were able to achieve some aspects of stepping on the treadmill with body-weight support, but they were unable to walk over ground. The participant in the Mayo Clinic Rehabilitation Medicine Research Center study was able to achieve stepping on a treadmill, independent standing, and stepping over ground while using a front-wheeled walker and occasional trainer assistance. All four participants were only able to perform these motor functions while the EES system was turned on and when they had the intention to move.

The results of these studies suggest that motor functions may be able to be restored in individuals with spinal cord injury with the use of electrical stimulation. The researchers at the Frazier Rehabilitation Institute and the Kentucky Spinal Cord Injury Research Center noted that the difference in outcomes between the two participants who were able to walk over ground and the two participants who were not able to walk over ground may be due to their sensory level below their injury or other factors. The researchers in both studies recommend a follow-up study be conducted with a larger number of participants.

Dr. Cristina Sadowsky, Clinical Director of the International Center for Spinal Cord Injury (ICSCI) at the Kennedy Krieger Institute, shared with us about how the results of these studies may be applicable to those with rare neuroimmune disorders.

The epidural stimulation case reports prove that some brain-spinal cord connections are dormant post injury and can be activated by ‘raising the excitability level’ of the neurons in the ‘gait center’ in the lumbar spine using the epidural spinal cord stimulator. The stimulator appears to work better in people with (sensory) incomplete injuries, which makes sense, as the number of tracts that connect the brain to the lumbar spine is probably higher than those with motor complete injuries. The stimulation does not work in everyone.

While the case series reports on results in individuals with traumatic spinal cord injury, the results of epidural stimulation could potentially be applied to paralysis related to non-traumatic conditions, like transverse myelitis (TM), neuromyelitis optica spectrum disorder (NMOSD), acute disseminated encephalomyelitis (ADEM), etc., as long as the injury spares the nerves leaving the cord and supplying the muscles in the legs. One way to determine that is to inquire about muscle spasms and reflexes – if they are present, the nerves to the legs are most likely intact.

What would the next steps be to advance this significant research discovery?

  1. Making someone’s gait more energy efficient, which would allow for smoother, longer distance ambulation. You would do that by working towards a more “normal” gait, including reducing assistance from other people to stabilize the pelvis, etc.
  2. Figuring out the best candidates for the procedure; establishing criteria that would preclude a person from getting the stimulator.
  3. Making the process of figuring out the best electrode parameters that give the optimal gait response easier by making this process short, reliable, and clinician friendly.
  4. Getting the smallest, safest, most reliable, customizable epidural stimulator.

There are also some concerns:

  1. Implanting a stimulator/foreign object leads to the possibility of technological failure.
  2. The implant might make it impossible to have an MRI study.
  3. The stimulator assisted gait is not independent and certainly not normal/efficient (yet).
  4. The hype it creates makes everyone think that they can walk if a stimulator is implanted.
  5. It’s still far away from actual use in clinical care. It takes a long time to program, programing is very personalized and requires a lot of knowledge. Dr. Susie Harkema and Dr. Reggie Edgerton, the senior scientists on each paper, have been working in the gait training field for many years!

The case reports are more relevant for the fact that now there is a method to allow for meaningful remaining brain-spinal cord connections to be uncovered and used, and it points out to the absolute NEED to undergo extensive, well designed, meaningful activity based rehabilitative interventions.

Angeli CA, Boakye M, Morton RA et al. Recovery of Over-Ground Walking after Chronic Motor Complete Spinal Cord Injury. N Engl J Med. 2018;379(13):1244-1250.

Gill ML, Grahn PJ, Calvert JS et al. Neuromodulation of lumbosacral spinal networks enables independent stepping after complete paraplegia. Nat Med. 2018 Sep 24.

Three Articles About AFM Published in JAMA Pediatrics

On November 30th, The Journal of the American Medical Association (JAMA) Pediatrics published three articles about acute flaccid myelitis (AFM). One article, “A Parental Perspective on Strengthening Knowledge After Acute Flaccid Myelitis,” was written by three mothers of children with AFM, Dr. Riley Bove, Heather Werdal, and Erin Olivera.1 They discuss their experiences caring for their children, as well as supporting other parents faced with this diagnosis through a Facebook group for parents of children with AFM. They explained that when they brought their children to a physician for evaluation of weakness, the physicians often did not perform a neurological examination that would have revealed the limb weakness. Often, they dismissed this weakness as insignificant, which led to delays in diagnostic tests and treatment “…The delay in evaluation represented the first of a series of schisms between us and the health care system that eroded our trust that our children’s cases were taken seriously, reported to the CDC adequately, and followed up with care.” They also note their ongoing role as caregivers for their children and the need to deal with complications, such as scoliosis and pain. They urge medical providers to advocate for greater insurance allowances for rehabilitation, and a greater willingness to work with their children’s schools and therapists. The authors write, “We share this perspective with the hope that early awareness, intervention, and advocacy will prevent AFM from becoming more common and will help our affected children achieve a future where they are not defined by their AFM.”

Earlier this fall, several clinicians and health care providers established the AFM Working Group. The Group consists of medical professionals and researchers from approximately 25 institutions and is under the leadership of Dr. Carlos Pardo from the Johns Hopkins Transverse Myelitis Center. SRNA is a member of this working group, and is committed to advancing the knowledge, research and education regarding AFM.  Dr. Sarah Hopkins, Dr. Matthew J. Elrick, and Dr. Kevin Messacar, in partnership with the working group, wrote an article about the diagnosis, treatment, and future directions for AFM.2 They discuss key diagnostic features found through lumbar puncture and magnetic resonance imaging (MRI) of the spinal cord. They discuss the identification of infections associated with AFM, such as enterovirus D68 and enterovirus A71. They argue that when AFM is suspected, patients should be hospitalized with a concern for the progression of weakness or loss of the ability to breathe. They discuss potential treatment options and note that intravenous immunoglobulin (IVIG) has been widely used, but that there are mixed opinions about the use of steroids or plasma exchange. They argue that “this is an area in urgent need of further research” and note the importance of early and continued rehabilitation.

Following outbreaks of AFM in 2012 and 2014, the U.S. Centers for Disease Control and Prevention (CDC) and the Council of State and Territorial Epidemiologists created a standardized case definition for this illness which could be used for epidemiological surveillance.3 This definition has been used by clinicians to diagnose and treat children presenting with this illness and by scientists to define research cohorts. While the CDC’s definition has been used to identify cases for the purpose of surveillance, it may need to be refined so as not to encompass other rare neuroimmune disorders, such as transverse myelitis, Guillain-Barre syndrome, spinal cord stroke, acute disseminated encephalomyelitis, MOG antibody disease, and other myelopathies.

Researchers, many of whom are part of the AFM working group, conducted a retrospective analysis which included the cases of 45 children younger than 18 who were diagnosed with AFM in the United States and Canada between 2012 and 2016. The records came from patients who self-referred or were referred by their physicians for a study of genetic susceptibility to AFM, and patients presenting with suspected AFM to the Johns Hopkins Transverse Myelitis Center between 2014 and 2017. The two goals of the study were to determine whether the CDC case definition of AFM includes patients with different diagnoses and to identify clinical characteristics that differentiate AFM from other diagnoses. Neurologists reviewed the medical records and MRIs (when available) of all patients and categorized them as either patients with “AFM with possible alternative diagnosis” (AFM-ad) or patients who met only the CDC case definition for AFM and no other alternative diagnosis, which they called “restrictively defined AFM”, or rAFM. The researchers then compared each clinical variable in the patients’ medical records to generate a description of rAFM; those characteristics that were present in all patients in the rAFM group. None of these characteristics were present in patients in the AFM-ad group. To further refine the rAFM case description, a blinded independent neurologist reviewed randomly selected cases, and the description was updated based on this review.

The researchers found that 34 patients had a diagnosis consistent with rAFM while 11 patients had a diagnosis classified as AFM-ad. The most common alternative diagnoses for the AFM-ad patients were transverse myelitis and spinal cord ischemia (spinal cord stroke). The researchers identified four major characteristics shared by all rAFM patients. They also identified several key differences between rAFM and AFM-ad. These included differences in the pattern of limb involvement (rAFM cases were more likely to have an asymmetric onset and less likely to have both legs affected). rAFM cases were more likely to have decreased muscle tone, and less likely to have bladder and bowel issues, or sensory issues. AFM-ad cases were more likely to have an onset that reached its peak in less than an hour. rAFM cases were more likely to have an infection prior to the onset of symptoms. The researchers also found differing diagnostic and imaging characteristics between the groups. For example, rAFM cases were more likely to have gray matter predominant lesions in the spinal cord than AFM-ad cases.

The researchers suggest that their findings lend to a more well-defined case definition for AFM that should be used as a starting point for inclusion and exclusion criteria in research. Additionally, their findings may be used in the clinical setting to more quickly and accurately diagnose AFM, so that treatment can be administered immediately, and patients can be monitored for respiratory issues. Early diagnosis of AFM enables a better chance of identifying a pathogen in biological samples, and it may also provide prognostic information to guide long-term treatment and rehabilitation. While the researchers’ case definition of AFM may be useful in the clinical setting, it may be problematic for a small number of cases and should not automatically exclude all cases that don’t meet these criteria.

The authors of the study acknowledge that a major limitation of this study is the inability to independently validate the use of the proposed description of rAFM. Such validation would require a separate and prospectively defined cohort of children presenting with acute weakness including other pathologies, such as ischemic myelopathies. They also state that the criteria described is provisional and expect that an iterative process of refinements can better serve the research needs of the AFM community.

[1] Bove R, Werdal H, Olivera E. A Parental Perspective on Strengthening Knowledge After Acute Flaccid Myelitis. JAMA Pediatr. 2018 Nov 30.

[2] Hopkins SE, Elrick MJ, Messacar K. Acute Flaccid Myelitis-Keys to Diagnosis, Questions About Treatment, and Future Directions. JAMA Pediatr. 2018 Nov 30.

[3] Elrick MJ, Gordon-Lipkin E, Crawford TO et al. Clinical Subpopulations in a Sample of North American Children Diagnosed With Acute Flaccid Myelitis, 2012-2016. JAMA Pediatr. 2018 Nov 30.

Upcoming Phase I remyelination trial using Q-Cells in Transverse Myelitis

The University of Texas Southwestern Medical Center recently posted a press release on an exciting upcoming Phase I remyelination trial using Q-Cells in Transverse Myelitis. SRNA is incredibly excited to be working with UT Southwestern Medical Center and Q Therapeutics 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. We hope you are excited too!

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. This Phase I trial will include nine non-ambulatory adult transverse myelitis patients. 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.

This Phase I study is expected to cost approximately $2.5 million. The CONQUER program at The University of Texas Southwestern secured a $1.5 million gift towards funding of the Phase I trial. SRNA, through  The  Pauline  H.  Siegel  Eclipse  Fund, and Q Therapeutics have committed the remaining funds to cover participant travel expenses, the production and testing of the cells for the trial, and the cost of a contract research organization (CRO) that will manage the clinical trial.

New Research Presented at American Academy of Neurology Meeting

A few weeks ago, we published a blog on SRNA-supported research that was presented at the 70th American Academy of Neurology Annual Meeting. Below is other research on rare neuroimmune disorders that was presented at the meeting.

A team from Johns Hopkins University, Johns Hopkins TM Center, and the Kennedy Krieger Institute presented research that aimed to investigate the differential diagnosis of pediatric myelopathy at the Johns Hopkins TM Center. They looked at the records of 55 children (under age 21) who had been seen at the Center between 2015 and 2017. They reviewed the temporal profile of symptoms, clinical presentation, and cerebrospinal fluid (CSF) analysis results of these children. They then compared the clinical features of non-inflammatory and inflammatory myelopathies. 71% of the cases they reviewed were inflammatory. Most of the patients presented with infectious (para-infectious and post-infectious) myelopathies (n=23, 42%), followed by vascular (n=15, 27%), autoimmune demyelinating (n=13, 24%) (including idiopathic transverse myelitis (n=3), neuromyelitis optica (NMO) spectrum (n=3), multiple sclerosis (n=7)) and of uncertain etiology (n=4, 7%). Those with non-inflammatory myelopathies were significantly more likely than those with inflammatory myelopathies to have a hyperacute onset (that is, less than six hours from onset to their peak neurological symptoms), sphincter dysfunction, lower extremity weakness, and symmetric involvement (meaning both sides of the body). Those with inflammatory myelopathies were significantly more likely than those with non-inflammatory myelopathies to have a preceding infection, cranial nerve involvement, and an increased white blood cell count in their cerebrospinal fluid.

Additional research was presented on Chiari malformations and TM. Chiari malformation is a condition in which brain tissue extends into the spinal canal. The researchers looked at patients (under age 21) who were referred to the Johns Hopkins TM Center between 2010 and 2017, and who had a diagnosis of TM and Chiari malformation. Of the 86 patients seen at the TM Center, seven patients (8%) with TM and Chiari malformation were identified. Six of seven (88%) were male. They all presented with hyperacute onset flaccid quadraparesis associated with longitudinally extensive cervical myelopathy. The prevalence of Chiari malformation in this study was eight times that of the prevalence of Chiari malformation in the general pediatric population reported in prior studies. The researchers believe these cases are not inflammatory but are vascular instead.

Maureen Mealy and Dr. Michael Levy from Johns Hopkins University School of Medicine, and Dr. Philippines Cabahug from the Kennedy Krieger Institute presented research on sexual quality of life in women with NMOSD. They conducted an analysis of women with NMOSD from the Johns Hopkins NMO Clinic Facebook Group, and online patient community. These women completed the Sexual Quality of Life-Female Questionnaire (SQOL-F), an 18-item assessment of the impact of sexual dysfunction on quality of life in women. They compared their data to healthy controls and to data from women with traumatic spinal cord injury (SCI). They found that sexual quality of life was significantly worse in women with NMOSD than women with SCI or the healthy controls.

We hope to see additional research presented at upcoming conferences and look forward to sharing the findings with you. For more information on this and other research, please visit


Munoz LS, Gordon-Lipkin E, Barreras P, Gómez S, Piedra W, Castañeda-Valderrama MJ, Yeshokumar A, Mealy M, Murphy O, Levy M, Becker D, Newsome S, Pardo CA. The spectrum of myelopathies in children: Beyond idiopathic transverse myelitis. Poster presented at: 2018 American Academy of Neurology Annual Meeting; April 2018; Los Angeles, CA.

Gordon-Lipkin E, Munoz L, Barreras P, Castañeda M, Gailloud P, Pardo CA. Chiari malformations associated with transverse myelitis: Are these myelopathies truly inflammatory? Poster presented at: 2018 American Academy of Neurology Annual Meeting; April 2018; Los Angeles, CA.

Mealy MA, Cabahug P, Levy M. Impaired sexual quality of life in women with neuromyelitis optica spectrum disorder. Poster presented at: 2018 American Academy of Neurology Annual Meeting; April 2018; Los Angeles, CA.