Stronger Together: Connecting the Rare Neuroimmune Disorders

We are all stronger together. But what does that mean, and why does it matter? One of the things that sets SRNA apart is our effort to be inclusive and welcoming to everyone impacted by rare neuroimmune disorders, including Acute Disseminated Encephalomyelitis (ADEM), Acute Flaccid Myelitis (AFM), MOG Antibody Disease (MOGAD), Neuromyelitis Optica Spectrum Disorder (NMOSD), Optic Neuritis (ON) and Transverse Myelitis (TM). The words and letters we use to name these disorders may feel distinct and unrelated, and it can be challenging to understand how they are all connected. 

At the foundation, these are neuroimmune disorders of the central nervous system – the brain, spinal cord, and optic nerve. Each of these conditions is rare, which in the United States means the condition impacts less than 200,000, or in the European Union, a rare disease is one that affects no more than 1 person in 2,000. Beyond these simple facts, there is a lot of overlap, including many of the symptoms, etiology, and continuing management for those with a rare neuroimmune diagnosis.

Grouping these conditions together is incredibly helpful in the diagnostic journey, or pathway to receiving a diagnosis. A patient’s journey to a rare diagnosis can vary and depend on a range of factors – location, access to specialists, healthcare coverage, proximity to acute and rehabilitation facilities, awareness of the symptoms and treatments, and other factors. Covering all these disorders together is incredibly helpful in enabling us to help patients seek the most accurate diagnosis possible. Someone may reach out and inform us that they’ve recently been diagnosed with TM, but among their symptoms is visual issues. We can support them with information about Optic Neuritis and related conditions that they can use to evaluate whether further investigation with their medical provider is needed. Assisting the rare neuroimmune community with efficient and medically accurate information can make a huge difference in pointing them toward better treatments and more helpful guidance on recovery.

For some of these conditions, the exact same organ or part of the body is affected by the same impact on the spinal cord due to an attack triggered by the immune system. The main difference between the two may be the ability to name the exact antibody in one person and not the other, while acute treatments for both might be the same. Beyond diagnosis, everyone can benefit from coming together and sharing about their experiences. People with ADEM, AFM, MOGAD, NMOSD, ON, and TM can join a support group and all connect on how they manage different symptoms that they all share in common. This same group of people might be seeing the same healthcare providers, or types of healthcare providers, because many treatments and specialists are the same across these diagnoses. Those with relapsing conditions might discuss the ways they evaluate the difference between a relapse and worsening symptoms, and the accompanying anxiety that may arise. Ultimately, many people diagnosed with a rare neuroimmune disorder, or their care partners, can connect over the experience of having a rare condition that few have heard of and even fewer deeply understand. 

When it comes to rare diseases, there is strength in numbers for conducting research to better understand the causes, treatments, and recovery for each of these disorders. 

By researching rare neuroimmune conditions together, we can collect more meaningful data and understand better for the next generation of patients affected by similar disorders and symptoms. There is a web of ways that these disorders are interconnected, and we are always seeking to understand them more deeply through our efforts with the SRNA Registry and other research. We can go further in research if we have more people involved. In a talk from our Rare Neuroimmune Disorders Symposium in 2019, Dr. Greenberg described the importance of including everyone in studies on these disorders. In it, he described ways that silos can result when patients are diagnosed with a specific disorder. A provider may diagnose someone with TM and refrain from digging deeper into any other possibilities. In research, Dr. Greenberg pointed out that including everyone in studies on rare neuroimmune disorders improves the quality of the analysis. For example, in studies on NMOSD, it was essential to include those with a TM diagnosis to help determine if the AQP4 antibody was actually connected to the disease. As Dr. Greenberg said, “including patients under a big tent changes our understanding of the disease.”  

We have not always had the words to differentiate these conditions, and over the years we have learned about NMOSD, MOGAD, AFM, and others. Perhaps in the years to come, we will expand even further beyond the six diagnoses as we research and learn about different names for the medical conditions that impact our community. SRNA founder and board president Sandy Siegel said it best when he described the importance of including ADEM, AFM, MOGAD, NMOSD, ON, and TM under one umbrella: “Together we are stronger, because education, support, clinical care, and research are more effective by sharing experiences, knowledge, and the power of numbers.”

A Staff Perspective on the SRNA Registry

The SRNA Registry is more than just numbers. It is a patient registry designed to learn more about the natural history, treatments, and outcomes of rare neuroimmune disorders. We constantly examine its wealth of data to understand important aspects of living with a rare neuroimmune disorder, such as diagnosis, symptom management, care pathways, and more. The registry guides us as an organization and drives groundbreaking research efforts. 

Over the past several weeks, we’ve shared why our registry is so crucial to our community members diagnosed with a rare neuroimmune disorder and the future of rare neuroimmune disorder research. Today, we’re sharing a new perspective. 

Read what some of our staff members had to say when asked how the SRNA Registry impacts their work every day.

“The SRNA Registry is an important tool for understanding the experiences of those diagnosed with rare neuroimmune disorders. By collecting information on individuals’ diagnosis, acute treatments, ongoing symptoms, and more, we can learn more about these disorders and the most urgent topics that should be researched. Working on the Registry the last five years has helped me to understand the problems that the rare neuroimmune community face, but it has also given me hope for the future of research to improve quality of life and even find a cure.” 

Krissy Dilger, Research and Program Manager

“The registry started as part of the NIH’s Global Rare Diseases Patient Registry Program, and when that ended, we shifted to having SRNA continue the registry on our own. The registry asks important questions about the diagnostic process, what the first inflammatory attack was like, if respondents have had relapses, and current symptoms. It allows us to look at all the disorders together and also see differences in onset, diagnosis, symptoms, and treatments for each disorder. Thank you for sharing your experiences with us!”

GG deFiebre, PhD, MPH, Director of Research and Programs 

“A registry is a powerful tool to learn from our community about the natural history of the disorders, learn about treatments and evaluate outcomes. It is a tool that will help us develop better treatment guidelines and facilitate more research to better understand these rare neuroimmune disorders.”

Chitra Krishnan, Executive Director

Want to learn more? Watch inspiring videos from Curtis Meadows and Dr. Benjamin Greenberg. Curtis is our ambassador for the SRNA Registry Fundraising Campaign. As someone with Transverse Myelitis, Curtis shares his perspective on why the registry matters to community members like him. Dr. Greenberg is an internationally recognized clinician and scientist specializing in these disorders. He shares why the registry is so important to his work and the future of research.

Congratulations to the Recipient of the Progress Grant for NMOSD!

SRNA would like to congratulate the recipient of the Progress Grant for NMOSD, Dr. Sammita Satyanarayan! The Progress Grant funds research aimed to improve understanding of neuromyelitis optica spectrum disorder (NMOSD), focused on specifically Asian and African American populations. In studies on NMOSD, we see that this disorder disproportionately affects those who are Black or Asian, unlike MS, which is more common among those who are White. Also, those who are Black or Asian seem to be younger at onset and have more brain symptoms or MRI abnormalities than those who are White.

The purpose of the Progress Grant for NMOSD is to help the broader NMOSD community understand how to improve diagnosis, treatment, and quality of life of people with NMOSD. Dr. Sammita Satyanarayan is conducting research on “Assessing the impact of social disparities of health on disability and access to care in NMOSD patients.” She is a neuroimmunology fellow at the Mt. Sinai Hospital in New York City, NY. Her study is focused on evaluating how the factors of people’s lives, called social determinants of health, impact their access to care, disability, and disease process in people with NMOSD.

Some of the social determinants of health Dr. Satyanarayan is studying include education access and quality, health care access and quality, neighborhood and built environment, social and community context, and economic stability. Differences in these factors can lead to differences in the disease process, which are called disparities. Better understanding of these factors can help medical professionals start addressing disparities while providing care to their patients.

In her research, Dr. Satyanarayan is measuring how social determinants of health affect access to care and disability. Access to care can be measured by the time between symptom onset to diagnosis, the time it takes to receive the first disease-modifying treatment, and the type of disease-modifying therapy received. Disability, on the other hand, is measured by patient reported outcomes, such as ambulation status and activities of daily living; physician reported status, such as ambulation status; standardized and validated disability scores, such as the Expanded Disability Status Scale (EDSS) and the Timed 25-Foot Walk; and examination of vision and visual acuity. Dr. Satyanarayan’s study will include both prospective and retrospective data and will include data from three academic medical centers – Mt. Sinai Hospital, University of Southern California, and Massachusetts General Hospital. You can learn more about the research study by viewing Dr. Satyanarayan’s presentation at the 2021 Rare Neuroimmune Disorders Symposium (RNDS) here.

We look forward to learning more about health disparities in people with NMOSD from Dr. Satyanarayan’s research, and we are hopeful that it will lead to better care for those in the NMOSD community. The Progress Grant for NMOSD is made possible by a grant from Horizon Therapeutics.

Summary of New Article on TM in US Veterans Health Administration Medical Records

A recent study was published on the characterization of transverse myelitis (TM). The researchers (including two former James T. Lubin Fellows, Drs. Sweeney and Galli) looked at data from the Veteran Health Administration’s (VHA) electronic medical records from 1999-2015. This national cohort analysis provided a modern point prevalence (meaning the number of cases in a population) of TM and stressed that the diagnosis of TM continues to be challenging for providers.

The study population consisted of all patients seeking care in the VHA system including all inpatient and outpatient visits. Then all TM cases were identified by reviewing each individual patient chart to ensure they met the diagnostic criteria for a true TM diagnosis.

961 patients out of 12,212,061 were identified with TM, including disease-related (related to multiple sclerosis, infection, or other demyelinating diseases) and idiopathic TM. The point prevalence of this group was 7.86 cases per 100,000 people, which was higher than previously reported in other studies, but was similar to the most recent county-based study in the United States. This point prevalence includes those with TM of no known cause (i.e., idiopathic) and disease-associated TM. The population of patients was 67.8% Caucasian, 18.3% African American, 3.1% Hispanic/Latino, and 2.0% Pacific Islander/Asian. Like other studies that use VHA medical records, the study population was mostly older males (90.7%) with a median age of 64.2 years.

They found that those with TM had moderate to severe deficits at the time of diagnosis. Most spinal cord lesions were in the thoracic spinal cord (42.6%), while approximately a third (35.5%) were in the cervical spinal cord, and 4.2% were in the lumbar spinal cord. The remaining TM attacks occurred in both the cervical and thoracic spinal cord. About one quarter had lesions that were longer in length than 3 vertebrae. Of the patients who had MRI reports of their brain, 17.2% of them were reported as abnormal.

68.2% of cases were diagnosed as idiopathic TM. Among all TM cases, the most common event before their diagnosis was an infection (9.7%) or vaccination (3.3%). Multiple sclerosis was the most frequent final diagnosis (16.7%). Of the 172 patients who had abnormal brain MRIs, 50.6% were eventually diagnosed with multiple sclerosis.

Spinal fluid results were available in 424 patients. An elevated protein was found in 68.4% of cases, while around half had an elevated white blood cell count. Oligoclonal bands were found in 25.6% of patients and more than half of those with oligoclonal bands had a final diagnosis of MS.

Among those for whom it was known whether they got acute treatments, 79.4% received an acute treatment. Corticosteroids were the most common treatment, and only 4.9% received plasma exchange. 71.7% of patients who received first-line immunotherapies such as corticosteroids, IVIg, or plasma exchange had some improvement in functional outcomes, and 22.6% were stable.

The authors note that their findings indicate a lack of adequate diagnostic testing: over half (57.6%) of cases did not include CSF testing and only 1/3 of cases were assigned a final diagnosis other than TM. The recent discovery of autoantibodies such as AQP-4 and MOG were not able to be included in this analysis because the study period was before there was widespread availability of this testing and it was not available at all VA centers. Also, this study was not set up to evaluate the efficacy of steroids, plasma exchange, or IVIg, so this should be looked at in future studies. However, this study does give a point prevalence using a large dataset and demonstrates the importance of prompt and accurate diagnosis at symptom onset as there is potential for intervention and prevention of disease progression.

This summary was written in part by Heather Peterson, a volunteer for the Siegel Rare Neuroimmune Association.

Original Publication: Abbatemarco J, Galli J, Sweeney M et al. Modern Look at Transverse Myelitis and Inflammatory Myelopathy: Epidemiology of the National Veterans Health Administration Population. Neurol Neuroimmunol Neuroinflamm. 2021 Aug 31;8(6):e1071.

Patient-reported safety and tolerability of the COVID-19 vaccines in persons with rare neuroimmunological diseases

Original Publication: Lotan I, Romanow G, Levy M. Patient-reported safety and tolerability of the COVID-19 vaccines in persons with rare neuroimmunological diseases. Mult Scler Relat Disord. 2021 Oct;55:103189. doi: https://doi.org/10.1016/j.msard.2021.103189

In response to the COVID-19 pandemic, several vaccines were developed and distributed across the world. Some of these vaccines received FDA approval in the United States (Pfizer, Moderna, and Johnson & Johnson), and another vaccine was approved by the European Union (AstraZeneca). These vaccines were recommended by several expert committees for people with autoimmune diseases and for people who are immunocompromised; however, the clinical trials excluded most people with rare neuroimmune disorders, which was cause for uncertainty among many people with one of these disorders and physicians.

Researchers Dr. Michael Levy, Dr. Itay Lotan, and Gabriela Romanow conducted an anonymous survey to report real-world safety data of the COVID-19 vaccine in persons with rare neuroimmune disorders. Participants were recruited from a closed Facebook group called “The NMO Clinic”. Of the 438 respondents, 55.3% had a diagnosis of neuromyelitis optica spectrum disorder (NMOSD), 22.6% had MOG antibody disease (MOGAD), 18% had transverse myelitis (TM), 2.5% had recurrent optic neuritis, 1.4% had acute disseminated encephalomyelitis (ADEM), and 0.3% had isolated optic neuritis. 27.4% of participants had associated comorbidities, and 80.1% of participants were being treated with immunotherapies, the most common of which was Rituximab.

Participants were asked whether they experienced immediate adverse events, like injection reactions, fever, or chills, following vaccination. 31.5% of respondents reported immediate adverse events, the most common of which were reactions at the injection site, including pain, redness, and swelling, followed by headache, muscle pain, fatigue, fever, chills, and dizziness. Of those who reported immediate adverse events, the majority were less than 55 years old. Of the participants who were being treated with immunotherapies, 35.3% reported immediate adverse events, in comparison to 32.1% of participants who were not being treated with immunotherapies, and this difference was not statistically significant. 51.4% of the participants on immunotherapies were on B-cell depleting agents including rituximab, ocrelizumab, and inebilizumab, and 33.5% of these participants experienced immediate adverse reactions. Comparatively, 67.5% of participants receiving other immunotherapies reported immediate adverse reactions.

Participants were also asked whether they experienced new or worsening neurological symptoms following vaccination. 16.7% of participants reported new or worsening neurological symptoms after receiving the COVID-19 vaccine. Of these, the majority were women (80.8%) and were being treated with immunotherapies (72.6%). The most common neurological symptoms were sensory disturbances such as numbness, tingling, and itching sensations; increased pain; muscle weakness; gait instability; visual symptoms; and sphincteric problems. Of participants who experienced new or worsening neurological symptoms, 82.2% did not require any additional treatment, while 12.4% received corticosteroids (1 in conjunction with IVIG), 4.2% were treated with additional painkillers, and 1.4% were treated with anti-nausea medication. The majority (52.1%) of respondents with new or worsening neurological symptoms reported that their symptoms resolved within 1-3 days. No participants reported having an MRI-confirmed relapse following vaccination.

The researchers compared the safety data from Pfizer’s clinical study of the COVID-19 vaccine in the general population and found that the rate of adverse events was higher in the general population than in the rare neuroimmune population who participated in this study. A possible explanation for this is that the majority of participants in this study were being treated with immunotherapies, which may blunt the effect of the vaccine, in turn causing less severe adverse events. This was especially prevalent in participants who were being treated with B-cell depleting therapies such as Rituximab. This observation should be evaluated in further studies.

The low rate of new or worsening neurological symptoms following COVID-19 vaccination is similar to data from existing (non-live-attenuated) vaccines that were not associated with a higher risk of relapse in autoimmune diseases. The researchers note that data reported in this study may help to alleviate hesitancy in the rare neuroimmune population to receive the COVID-19 vaccine.

A limitation of this study was that the data were reported anonymously and could not be confirmed by reviewing medical records. Also, participants did not undergo a medical examination to evaluate their symptoms, and all data were patient-reported. Finally, the study may not be representative of the rare neuroimmune population as a whole, because factors such as socioeconomic status, ethnic background, and physical disability can affect access to social media and internet; however, characteristics such as majority female, age, and immunotherapy treatments are similar to other groups of participants of NMOSD studies that have been published.

The researchers conclude that the safety of COVID-19 vaccines in the rare neuroimmune disorder community seems favorable. The rate of adverse events following vaccination is similar to that of the general population, and the rate of new or worsening neurological symptoms is relatively low with most symptoms being mild, resolving quickly, and not requiring additional treatment. The data should be evaluated in further studies.

Pediatric NMOSD Observational Study Opportunity

A Pediatric NMOSD Observational Study opportunity is open for enrollment to any pediatric patient, age 2 to 17 years, that has tested positive for the AQP4 antibody, regardless of their location. The study, led by Dr. Sean Pittock of Mayo Clinic along with Alexion Pharmaceuticals, is being done to collect information to develop a database on the natural history of NMOSD in pediatric patients who test positive for AQP4-IgG.

The lack of information on the course and natural history of NMOSD in children is a limiting factor in performing drug studies for children with this disorder. Participation in the study will allow for the collection of clinical information over a one-year period to help inform on the natural history of NMOSD and to build a repository of pediatric patients. A repository or database of information will allow the rare disease community, and medical and scientific researchers, to increase knowledge of NMOSD. It will also identify appropriate individuals for specific drug studies and may also help serve as a control group for future research.

This is an observational, prospective study, and information (e.g., baseline data, self-report assessments, etc.) is collected over the course of one year: at enrollment, 3 months, 6 months, 9 months, and 12 months (+/- 1 month for each time point). Travel to Mayo Clinic is not necessary for participation!

A full description of data collected, self-reporting assessments used, and timepoints for data collection can be found here.

Inclusion Criteria include the following:

  1. AQP4 positive.
  2. Ability to give informed consent by patient or caregiver.

Exclusion Criteria:

Inability to complete required forms via phone, mail, or email.

If you or your child have questions or are interested in participating, please contact Cara L Thomas, AA, at 507-722-5563, or via email [email protected], or Katie Dunlay, BA, at 507-538-5418, or via email at [email protected].

It is through your active consideration and participation in research that assists our medical and scientific community with identifying and carrying out research priorities for our children diagnosed with NMOSD. Thank you for your thoughtful consideration!

Visit the study informational page on SRNA.

Visit the study informational page on ClinicalTrials.gov.


Patient Attitudes Toward NMOSD

By Sheryl Lapidus, Senior Director of Patient Advocacy, HORIZON Therapeutics

What can the experiences of those with NMOSD tell us?

Today, there are over 7,000 known rare diseases, creating a vast community of individuals connected by a common thread. However, each of these individuals is on their own journey, with unique experiences and support systems. This is very much the case for those with neuromyelitis optica spectrum disorder (NMOSD), a rare autoimmune disorder that causes recurrent inflammatory attacks of the optic nerve, spinal cord and brain. Throughout my time as a patient advocate, I’ve had the opportunity to talk with numerous individuals living with NMOSD who have expressed the frustration and confusion that come from living with a rare disease. From misdiagnosis to navigating education and resources to the struggles of finding the best treatment option, the NMOSD journey is a complicated one that must be better understood in order to ensure that we are doing all that we can to improve the lives of those who are living with this disease and their families.

With that goal in mind, myself and a team of NMOSD researchers from the Instituto Nacional de Neurología y Neurocirugía, Massachusetts General Hospital and Harvard Medical School set out on our own journey to understand the experiences and feelings of those living with NMOSD. We began this exploration by surveying 151 participants, asking them questions on a wide range of topics including symptoms, diagnosis and, more importantly, how individuals felt throughout the course of their NMOSD. Survey responses were representative from people of all ages (<10 to >70 years), ethnicities (86% not Hispanic/Latinx, 8% Hispanic/Latinx, 6% NA), education levels and genders (83% female, 12% male, 5% other). Their backgrounds and responses demonstrated how diverse this community is and helped to set us on the path of determining the common challenges and victories these individuals face every day.

As diverse and unique as everyone’s experience with NMOSD is, common triumphs and struggles became apparent from the survey results. Around initial diagnosis, many of those surveyed felt scared (57%), frustrated (40%) and bewildered (37%). These emotions occur among many people with NMOSD because they may have previously been misdiagnosed and continued to feel an uncertainty with how their lives would unfold following diagnosis. One survey participant shared how their struggles made them feel, stating: “It was hard being diagnosed. I was a month and a half away from getting married. I had always been healthy up until I wasn’t. I had no real medical history. I was so scared of what the future would hold.”

For those with NMOSD, the survey results showed that the journey doesn’t stop at diagnosis, but it does mark an important milestone on the road to improving their daily lives. One of the pivotal moments, according to the survey results, was the transition from a general physician to an NMOSD specialist, with 77% of the respondents feeling relieved after meeting with their specialist. This turning point is not only an important step in improving the physical health of those living with NMOSD, but also their mental and emotional health.

As I look back on these survey responses, it’s clear that a lot of progress has been made in supporting the NMOSD community. As a patient advocate, I’ve seen the great efforts to further NMOSD education among health care professionals, the NMOSD community and the public with the SRNA podcast series, ABCs of NMOSD, and the Let’s NMOwn the Path Forward community, to name a few examples. The community’s efforts, resource centers and social media platforms have already allowed many to find a new way to connect, feel less alone and reduce the uncertainty around what NMOSD means for their future. As we raise awareness of this rare disease, we aim to close the gap between a person’s initial symptoms and their diagnosis, allowing for earlier identification of disease and quicker access to treatments, but more can still be done. That’s why our team at Horizon Therapeutics is working diligently to improve the lives of those with NMOSD every day by going beyond science to work with the community. The path to improving the lives of those with NMOSD is a complicated one, but to follow the words of one of the survey respondents, “I am trying my best every day,” so we will continue to do our best, too, to support the NMOSD community.


Sheryl Lapidus is Senior Director of Patient Advocacy at HORIZON Therapeutics. She is responsible for building partnerships with US and international patient advocacy organizations that support individuals living with NMOSD and other rare disease focused patient advocacy groups.

Prior to joining HORIZON, Sheryl spent more than thirty years focused on the oncology and hematology specialty area. Her experience includes field sales, account management, corporate affairs, and patient advocacy. Sheryl most recently served as Senior Director of Patient Engagement at Viela Bio where she was responsible for establishing the patient engagement department.

Sheryl holds a Bachelor of Arts degree in psychology from the California State University at Northridge and a Master of Arts degree in gerontology from the University of Southern California. She currently lives in Washington, DC. Her hobbies include travel, spending time with her three adult children and her two golden retrievers.


Apply to SRNA’s Progress Grant for NMOSD

The Siegel Rare Neuroimmune Association’s Eclipse Fund for research is excited to share the establishment of The Progress Grant for NMOSD, made possible by a research grant from Horizon Therapeutics.

Purpose:

The Eclipse Fund in memory of Pauline H. Siegel was established to support and accelerate research that will directly impact quality of life for the members of our community.

The aim of this grant is to fund research aimed to improve understanding of neuromyelitis optica spectrum disorder (NMOSD), focused on specifically Asian and African American populations. In studies on NMOSD, we see that this disorder disproportionately affects those who are Black or Asian, unlike MS, which is more common among those who are White. Also, Black and Asian patients seem to be younger at onset and have more brain symptoms or MRI abnormalities than White patients.

The purpose of the Progress Grant for NMOSD is to help the broader NMOSD community understand how to improve diagnosis, treatment and quality of life of people with NMOSD. Research projects may focus on access to care, mental and psychosocial aspects of living with NMOSD, clinical differences, improving diagnosis and clinical care, therapeutics, or basic science projects.

Award:

The Progress Grant for NMOSD will award one $25,000 grant award to conduct original research. All funds will be used to support the research directly. SRNA does not support indirect institutional costs.

Eligibility:

Grants are made to organizations on behalf of a named Principal Investigator. Applicants must provide a research project consistent with the goals of the award that helps advance the field forward.

Application Dates:

Open Date – April 5, 2021
Closing Date – June 30, 2021
Review and Board approval – July-August 2021
Awards announced – September 2021

Application Process:

Proposals submitted through the online form should provide a detailed description of the research or clinical project that will be partially or fully supported by the grant and a budget providing details of the estimated costs. Proposals are reviewed by our basic and clinical scientists and experts on SRNA’s Medical and Scientific Council. Additional expertise may be sought from ad-hoc reviewers to ensure comprehensive scientific review. Applications will be reviewed based on innovation, scientific rigor and alignment with the goals of the grant. Potential conflicts of interest for reviewers and applicants must be mentioned in the application and declared prior to the review and will be recused from the review process.

Recommendations for funding are made to the Board of Directors of SRNA. The final approval for funding is provided by the Board.

Additional Guidelines:

Funding from SRNA may not be used to cover any indirect costs.

Publications and Reporting Requirements:

As reporting requirements, SRNA would require two articles (as six-month reports) for SRNA’s Magazine, which describe the progress and findings from the research. We also require a final report be submitted detailing the expenditure of the funds and a short summary that we will publish on the SRNA website. SRNA should be acknowledged in any publications of research results that were supported by the grant.

Public Access Policy:

The Siegel Rare Neuroimmune Association funds clinical and biomedical research in order to better understand the causes of Acute Disseminated Encephalomyelitis, Acute Flaccid Myelitis, MOG Antibody Disease, Neuromyelitis Optica Spectrum Disorder, Optic Neuritis, and Transverse Myelitis; and to advance early diagnosis, treatment, and cures. The main output of this research is new knowledge. To ensure this knowledge can be accessed, read, applied, and built upon in fulfillment of our goals, the Siegel Rare Neuroimmune Association expects its researchers to publish their findings in peer-reviewed journals.

In addition, it is a condition of the Siegel Rare Neuroimmune Association’s funding that a copy of all funded research outputs, in the form of final, peer-reviewed manuscripts, must be delivered to the Siegel Rare Neuroimmune Association upon acceptance.  These manuscripts will be made publicly available on the Siegel Rare Neuroimmune Association website no later than 12 months after the official date of publication.

This requirement applies to all Siegel Rare Neuroimmune Association grants awarded after January 1, 2012.

The policy is developed with the Scholarly Publishing and Academic Resources Coalition (SPARC) and is based on the policy developed by Autism Speaks, with that organization’s permission.

Apply:

Please click here to apply.


Acute Flaccid Myelitis: Cause, Diagnosis, and Management

FOR IMMEDIATE RELEASE

Since 2012, there has been an alarming bi-annual pattern of increases in the number of acute flaccid myelitis (AFM) cases. Although the disorder that we now know of as AFM is not new, the bi-annual spikes, linked to an ordinarily innocuous enterovirus, have raised questions and alarm from a public health perspective. Following the increase in cases in 2018, a group of clinicians and researchers around the United States established The AFM Working Group (AFMWG). This multicentric and multidisciplinary group, led by Dr. Carlos A. Pardo from Johns Hopkins University, was formed and included health care providers, clinicians, and researchers from more than 25 institutions, and patient advocacy groups (such as the Siegel Rare Neuroimmune Association) to address the clinical needs of patients, families, and to support further research. The group began to outline consensus guidelines for improving diagnosis, developing management strategies of clinical concerns found in AFM, coordinating research efforts, and prioritizing research needs. This multi-disciplinary approach of clinicians, scientists, public health agencies, advocacy groups, and families was necessary and innovative. Building consensus from various yet shared experiences of this rare disorder, which at first had no clinical trials or treatment protocols available, has led to a collaborative and comprehensive effort.

This effort has resulted in the first consensus publication of clinical guidance on AFM in the medical journal, The Lancet. Dr. Olwen Murphy, a former James T. Lubin Fellow of the Siegel Rare Neuroimmune Association, led the publication of “Acute flaccid myelitis: cause, diagnosis, and management.” This paper summarizes the critical and substantial work of the AFMWG. From definite to uncertain diagnosis, the authors provide a detailed and comprehensive clinical perspective necessary for medical professionals and families to recognize the symptoms, accurately diagnose, establish acute treatment protocols, as well as near and long-term rehabilitation and recovery strategies for those with AFM.

It is the clinical definition of AFM that this paper sets forth that treating physicians and families should seek to understand when establishing whether or not a child has AFM. The paper breaks down the timeline of an AFM diagnosis from recognition to recovery, outlining recommended protocols for each stage of the diagnosis, and underscores the importance of further studies to aid our understanding of the precise and various disease mechanisms by which an individual ends up with AFM.

It is only through consistent and widely used clinical diagnostic guidelines, treatment plans, and the collection of essential specimens and data that we can begin to understand who will develop AFM after a viral infection and how we can stop it from developing. We can continue to increase awareness, improve on ensuring patients get an accurate diagnosis, and swiftly implement appropriate treatment and rehabilitation strategies to enhance recovery and quality of life of those with AFM.

As the COVID-19 pandemic introduced several emergency public health measures around the world including physical distancing, lockdowns and quarantines, the circulation of other viruses including enteroviruses, the viruses involved as a cause of AFM, decreased dramatically. However, it is expected that once the public health measures around COVID-19 are relaxed and children return to normal school activities in 2021 and 2022, new outbreaks of AFM will emerge. This paper sets up preparedness for such possible outbreaks and focuses on education and awareness for healthcare providers to improve diagnosis and management of AFM.

Members of the AFMWG, including Drs. Carlos Pardo and others, will be presenting about this paper during a Town Hall webinar in January 2021, details will be announced on the SRNA website. They’ll be discussing various details of the paper, their work as a collaborative group, and why the approach they’ve taken to work collaboratively was necessary. They’ll be available to clinicians and families alike to answer questions on the clinical diagnosis and treatment plans for AFM and help advance understanding and research of AFM.

What we now call AFM today was previously considered under the umbrella of transverse myelitis (TM), specifically as a subtype of this disorder. The similarities between the two can be vast, but the two often overlap, from treatment options to long-term management strategies. The more we understand about AFM, the better we will understand other rare neuroimmune disorders like TM, acute disseminated encephalomyelitis (ADEM), MOG antibody disease (MOGAD), neuromyelitis optica spectrum disorder (NMOSD), and optic neuritis (ON).

About The AFM Working Group

The AFM Working Group was established in North America in September 2018 in response to the emergence of AFM as a disabling disease representing a significant public health threat. With a total of 131 group members, it encompasses a wide range of relevant specialties including neurology, pediatrics, infectious diseases, critical care medicine, surgery, and physical medicine & rehabilitation, as well as scientists with expertise in epidemiology, genetics, virology and immunology, and representatives from the patient community. The mission of The AFM Working group is to develop, generate consensus, and share knowledge about the disease for the welfare of individuals diagnosed with AFM in the United States and around the world.

For more information, please visit https://www.acuteflaccidmyelitis.org/.

About SRNA

Siegel Rare Neuroimmune Association was founded 25 years ago by families of loved ones affected by rare neuroimmune disorders. We advocate for, support and educate individuals and their families diagnosed with rare neuroimmune disorders – acute disseminated encephalomyelitis, acute flaccid myelitis, MOG antibody disease, neuromyelitis optica spectrum disorder, optic neuritis and transverse myelitis. We invest in scientific research, therapy development and training of clinician-scientists dedicated to these disorders. We have over 15,000 members and are active in 121 countries. We offer an up-to-date accurate website, resource library of over 300 publications, a patient registry, “Ask the Expert” podcasts, education symposia, the Myelitis Helpline, Quality of Life Family camps, clinician-scientist training Fellowship and a support group network. SRNA is a registered nonprofit organization recognized by the U.S. Internal Revenue Service as a 501(c)(3) non-profit organization with a Guidestar Silver Seal of Transparency.

For more information, please visit https://wearesrna.org/

Other links:

From the CDC

https://www.cdc.gov/acute-flaccid-myelitis/cases-in-us.html

SRNA AFM Hope Ambassadors

https://wearesrna.org/about/hope-ambassadors?fwp_ha_disorder=afm

Contacts:

Carlos A. Pardo, MD ([email protected])

Andrea Salazar, MD ([email protected])

Evidence Related to COVID-19 in People Living with Spinal Cord Injury

Recently, the North American Spinal Cord Injury Consortium (NASCIC) published a summary of several studies regarding COVID-19 and people living with spinal cord injury (SCI). Although our community members may have additional concerns due to their rare neuroimmune diagnosis, the findings can still be helpful to our community members who have non-traumatic spinal cord injury. We are still learning the effects that COVID-19 may have on our community, and studies such as the these are helpful in creating a clearer picture. Below is the conclusion of the NASCIC’s summary of the studies on COVID-19 and SCI. The full summary of the NASCIC’s findings, including take home messages and additional resources, can be found here.

“Since the onset of the COVID-19 pandemic, the unknown has caused significant impact in the community living with spinal cord injury (SCI). At the same time, there has been much learning, creation, and gathering of knowledge and resources about this disease to begin to understand the SCI community’s health risks in relation to COVID-19. The North American Spinal Cord Injury Consortium (NASCIC) took the initiative to gather and present all current evidence-based information and knowledge about COVID-19 related to those living with SCI. NASCIC collaboratively assessed various resources to provide those living with SCI and the community a thorough understanding of the current situation and, hopefully, quell fears of the unknown related to COVID-19. The evidence that NASCIC has compiled and has included in this report covers:

  • the concerns about the pandemic from people with SCI,
  • case studies with SCI who have contracted COVID-19, and
  • impacts of nationwide lockdowns due to COVID-19.

NASCIC additionally highlights preliminary best-practices people with SCI can take to stay safe and healthy (physically, mentally, and emotionally) as they live through the pandemic. Research involving COVID-19 and its effect on the community are on-going and NASCIC hopes that this report will help bring awareness and open doors for further conversation and advocacy about the concerns/needs of the SCI community to researchers, policy makers, healthcare providers, and other stakeholders with interest in spinal injury. This report and take-home points will be updated as new, peer-reviewed evidence becomes available.

Based on the review presented of the evidence available at the time of publishing, it is fair to say that so far, the SCI community does not necessarily experience more severe symptoms and mortality if COVID-19 is contracted compared to the rest of the population.

However, due to the SCI community’s need for personal care, they do face an added risk in being exposed to the virus. Personal care attendants may not be able to socially distance themselves when assisting individuals, and thus create an added risk in transmitting or contracting the virus. This added risk can be reduced through appropriate usage of personal protective equipment (PPE). Hand washing and personal safety with PPE are an absolute priority, as it can help lower risk of spread. Lastly, like everyone experiencing the pandemic, mental and emotional health are impacted. Hence, it is a great time to virtually connect with one’s family and friends and find new support groups online to help cope with isolation.

Further conversation and continuous advocacy for the SCI community is NASCIC’s focus during this unprecedented time. NASCIC encourages meaningful engagement and further education as we endure this pandemic. We look forward to sharing the results of ongoing and future studies that are being conducted that address the impact of COVID-19 on the SCI community.”

North American Spinal Cord Injury Consortium, Evidence Related to COVID-19 in People Living With Spinal Injury. Niagara Falls, NY. 2020.