En este episodio de “Pregúntele al Experto” de SRNA, moderado por Jesús Loreto, la Dra. Glendaliz Bosques explica por qué la rehabilitación es esencial en la recuperación de trastornos neuroinmunes poco frecuentes. La doctora enfatiza que el proceso debe iniciarse lo antes posible —incluso antes de contar con un diagnóstico definitivo— para prevenir complicaciones y optimizar la función física. Asimismo, se detalla cómo se evalúan la discapacidad y el potencial de recuperación mediante la historia clínica, el examen neurológico y la revisión de estudios médicos. La Dra. Bosques señala el valor fundamental de un equipo multidisciplinario (que incluye neurología, fisiatría, terapias física, ocupacional y del habla, salud mental y apoyo social) y explica cómo establecer metas realistas centradas en la participación y los roles sociales del paciente.

La Dra. Glendaliz Bosques es una fisiatra certificada por la junta y Jefa de Medicina de Rehabilitación Pediátrica en UT Health Austin Pediatric Neurosciences at Dell Children’s, una colaboración clínica entre el Dell Children's Medical Center y UT Health Austin. Se especializa en el tratamiento de niños con discapacidades físicas, ya sean congénitas o adquiridas. Además, la Dra. Bosques es profesora asociada en el Departamento de Neurología de la Facultad de Medicina Dell (Dell Medical School) de la Universidad de Texas en Austin.

La Dra. Bosques obtuvo su licenciatura en Ciencias Naturales en la Universidad de Puerto Rico, Recinto de Río Piedras (Río Piedras, Puerto Rico), donde se graduó *summa cum laude*. Obtuvo su título de médica en la Facultad de Medicina de la Universidad de Puerto Rico (San Juan, Puerto Rico), donde se graduó *magna cum laude*. Completó un internado en medicina de transición en el San Juan City Hospital (San Juan, Puerto Rico); una residencia en medicina física y rehabilitación en la Alianza de Medicina Física y Rehabilitación del Baylor College of Medicine y el Centro de Ciencias de la Salud de la Universidad de Texas en Houston; y una subespecialización (*fellowship*) en Medicina de Rehabilitación Pediátrica en el Cincinnati Children's Hospital / Universidad de Cincinnati.

A la Dra. Bosques le apasiona comprender las inquietudes de sus pacientes, no solo tal como se manifiestan durante la consulta médica, sino también en lo que respecta a sus dificultades funcionales en el hogar, la escuela y su contexto social. Sus intereses clínicos incluyen la rehabilitación avanzada de enfermedades paralíticas en niños —abarcando etiologías tanto traumáticas como no traumáticas—, mientras que sus intereses académicos se centran en la integración de la gestión de la discapacidad en la educación médica. Forma parte del Consejo de Educadores Médicos y ejerce como Presidenta fundadora de "LatinX in Physiatry", una comunidad destinada a los miembros de la Academia Estadounidense de Medicina Física y Rehabilitación con raíces latinas. Asimismo, es miembro activo de la Asociación de Fisiatras Académicos.

00:00,Bienvenida y contexto

01:48,Por qué rehabilitar

04:08,Cuándo empezar la terapia

05:55,Monofásico vs. recurrente

10:39,Evaluación y pronóstico

13:36,Equipo multidisciplinario

17:07,Metas realistas

18:07,Terapias clave

20:12,Rehabilitación pediátrica

23:40,Manejo del dolor

26:12,Control de espasticidad

31:58,Fatiga y energía

37:14,Salud mental y motivación

40:00,Rol de la familia y cuidadores

46:15,Esperanza y tecnología

Krissy Dilger of SRNA spoke with Matt Rathbun and Charlotte Engebrecht from the University of Rochester Center for Health and Technology about the Neuromyelitis Optica Spectrum Disorder-Health Index (NMOSD-HI) study, which aims to develop and validate an NMOSD-specific patient-reported outcome survey for use in clinical trials and routine care [02:25]. They explained that existing measures are often adapted from multiple sclerosis and may not reflect NMOSD patients’ unique experiences [04:38]. They shared phase one insights from interviews with 15 individuals showing multi-system impacts [09:51]. They described eligibility for the current anonymous survey (adults 18+ with NMOSD, aquaporin-4 positive or negative, in the US, Canada, EU, UK, or Australia) and noted prior participants can join later phases [13:22]. You can learn more about the study here:

https://redcap.link/nmo-hi

Questions can be sent to Matt and Charlotte:

Matthew_Rathbun@urmc.rochester.edu

Charlotte_Engebrecht@urmc.rochester.edu

Matt Rathbun, BA, graduated from Nazareth University in May of 2025 and is currently pursuing his Master of Public Health degree at Nazareth University. At the University of Rochester Center for Health + Technology (CHeT), he works as a Human Subject Research Specialist, where he coordinates translational research studies focused on the lived experiences of individuals living with rare diseases. This work supports the development and validation of disease-specific PRO measures that capture aspects of disease burden most meaningful to patients. Matt’s interests center on strengthening the relevance, inclusivity, and equity of clinical research. He aims to ensure that clinical research more accurately reflects the real-world impact of disease on patients’ lives. He also works to advance more equitable and patient-centered approaches to treatment evaluation in rare disease communities.

Charlotte Engebrecht, BS, is a graduate of Hobart and William Smith Colleges and a current Master of Science in Clinical Investigations student at the University of Rochester. She serves as a Clinical Trials Project Specialist at the University of Rochester Center for Health + Technology (CHeT), where her work centers on the development and validation of patient-reported outcome (PRO) measures for rare diseases. Charlotte conducts research that is grounded in a commitment to elevating the patient voice as a central pillar of clinical research. Patient-reported outcomes offer critical insight into how diseases and treatments truly impact daily life. She is particularly passionate about ensuring that these perspectives are not only included, but prioritized, in the design and evaluation of clinical trials. Her work focuses on rare diseases, with a specific interest in neuromyelitis optica spectrum disorder (NMOSD), where traditional clinical endpoints often fail to capture the full burden of illness. By integrating patient-centered measurement tools into therapeutic development, Charlotte aims to advance more meaningful and responsive approaches to evaluating new treatments.

00:00 Welcome

02:25 Study Overview

04:38 Why Patient Voices Matter

06:16 How the Study Works

08:29 Who Can Participate

09:51 Phase One Findings

13:22 Join the Survey

15:43 Wrap Up

The "Community Meets Clinic" podcast series introduces clinicians and healthcare personnel specializing in rare neuroimmune disorders. In this episode hosted by Krissy Dilger of SRNA, we met Dr. Grace Gombolay and Dr. Varun Kannan, both from Emory University and Children's Healthcare of Atlanta, designated Centers of Excellence in Rare Neuroimmune Disorders. Dr. Kannan discussed learning alongside families as conditions like MOG antibody disease emerged clinically and his focus on tailoring treatment and supporting clinical trials in a field with few approved therapies [03:37]. Dr. Gombolay outlined her research on biomarker development, a Children’s biobank, advanced MRI collaborations, and participation in the Network of Pediatric MS Centers covering disorders such as MOGAD, NMOSD, optic neuritis, ADEM, and TM [06:36]. They described their multidisciplinary clinic team, highlighted home infusions and telemedicine to reduce burden, and shared personal self-care strategies [10:22]. Dr. Gombolay and Dr. Kannan expressed hope for more trials, remyelination, prevention, and earlier diagnosis aided by AI prompts [20:43].

You can view Dr. Grace Gombolay's medical profile here:

https://www.choa.org/doctors/grace-gombolay

You can view Dr. Varun Kannan's medical profile here:

https://www.choa.org/doctors/varun-kannan

Grace Gombolay, MD, MSc, FAAN is an Associate Professor at Emory University and Director of the Pediatric Neuroimmunology and Multiple Sclerosis Clinic at Children's Healthcare of Atlanta. Her research interest involves biomarker development in pediatric neuroinflammatory diseases including autoimmune encephalitis, multiple sclerosis, MOGAD, and NMOSD.

Varun Kannan, MD graduated from Emory University School of Medicine in 2017. He then completed child neurology residency in 2022, followed by pediatric neuroimmunology and multiple sclerosis fellowship at Baylor College of Medicine and Texas Children's Hospital in 2023. He returned to Emory and Children's Healthcare of Atlanta in 2023, where he has worked closely with Dr. Grace Gombolay in the neuroimmunology program. He is interested in clinical research regarding severe/relapsing forms of rare neuroimmune disorders including autoimmune encephalitis and MOGAD. He is currently involved in multiple upcoming phase 3 clinical trials exploring new disease modifying treatments for pediatric rare neuroimmune disorders. He is also passionate about medical education and is currently one of the Associate Program Directors for the Emory child neurology residency.

00:00 Welcome

01:56 Dr. Grace Gombolay's Journey

03:37 Dr. Varun Kannan's Path

05:06 Kannan's Research Focus

06:36 Biomarkers and Biobank

10:22 Clinic Team and Care

13:44 Self Care and Balance

16:15 Children's Healthcare of Atlanta

20:43 Hopeful Future Ahead

24:49 Closing

In this special “Ask the Expert” collaboration between The MOG Project and SRNA, Julia Lefelar and Dr. GG deFiebre welcomed Dr. Benjamin Greenberg of UT Southwestern, who answered questions from the audience. Dr. Greenberg reviewed major advances in MOG antibody disease research and diagnostic criteria [00:05:06]. He discussed efforts to predict relapse risk using sustained antibody positivity, demographic and clinical models, and immune-cell profiling studies [00:07:55]. Dr. Greenberg detailed controversies around low-positive antibody titers and how cell-based assays and dilution thresholds affect specificity [00:21:38]. He outlined concepts and progress in tolerance-inducing approaches such as Tregs and CAR T therapy, described differences from B-cell–depleting drugs like rituximab [00:26:32] Finally, Dr. Greenberg highlighted the satralizumab meteoroid trial and the ongoing cosMOG study of rozanolixizumab, emphasizing community engagement, registries, surveys, and trial participation to accelerate access and potential curative strategies [00:38:36]. You can learn more about The MOG Project here:

https://mogproject.org/

Benjamin M. Greenberg, MD, MHS is a Professor and the Cain Denius Scholar in Mobility Disorders in the Department of Neurology [ https://utswmed.org/why-utsw/departments/neurology/ ] at UT Southwestern Medical Center in Dallas, Texas. He currently serves as the Vice Chair of Translational Research and Strategic Initiatives for the Department of Neurology. He is also the interim Director of the Multiple Sclerosis Center [ https://utswmed.org/locations/aston/multiple-sclerosis-and-neuroimmunology-clinic/ ] and the Director of the Neurosciences Clinical Research Center. In addition, he serves as Director of the Transverse Myelitis and Neuromyelitis Optica Program and the Pediatric Demyelinating Disease Program at Children’s Medical Center [ https://www.childrens.com/specialties-services/specialty-centers-and-programs/neurology/demyelinating-disease-program ].

Dr. Greenberg earned his medical degree at Baylor College of Medicine before completing an internal medicine internship at Chicago’s Rush Presbyterian-St. Luke’s Medical Center. He performed his neurology residency at the Johns Hopkins School of Medicine. He also holds an M.H.S. in molecular microbiology and immunology from the Bloomberg School of Public Health, as well as a bachelor’s degree in the history of medicine – both from Johns Hopkins. Prior to his recruitment to UT Southwestern in 2009, Dr. Greenberg was on the faculty of the Johns Hopkins Division of Neuroimmunology, serving as the Director of the Encephalitis Center and Co-Director of the nation’s first dedicated Transverse Myelitis Center.

Dr. Greenberg splits his clinical time between adult and pediatric patients at William P. Clements Jr. and Zale Lipshy University Hospitals, Parkland, and Children’s Medical Center. His research focuses on better diagnosing, prognosticating, and treating demyelinating diseases and nervous system infections. He also coordinates clinical trials to evaluate new treatments to prevent neurologic damage and restore function to affected patients.

00:00 Welcome

01:44 Hosts and Guest Intro

05:06 Research Buckets Overview

07:55 Predicting Relapse Risk

11:46 Tregs and Immune Brakes

17:40 Attack Severity and Relapse

19:24 MOGAD Criteria Updates

21:38 Titers Explained Simply

26:32 Targeting MOG Antibodies

29:11 CAR T and Immune Reset

32:39 When Criteria Changes

33:52 Tolerance Research Boom

34:48 From Animals to Trials

37:17 Community Drives Progress

38:36 Meteoroid and cosMOG Clinical Trials

41:39 How These Drugs Work

44:02 FDA Approval and Access

45:49 Insurance Switch Concerns

48:39 Rituximab Dosing Debate

52:41 Why Antibodies Develop

54:18 Future Attack Patterns

55:47 CAR T Versus Rituximab

57:10 Lab Research and Support

01:00:51 Hope for a Cure

01:02:14 Closing and Resources

In this SRNA "Ask the Expert" episode moderated by Krissy Dilger, Dr. John Chen of the Mayo Clinic answered audience questions about MOG antibody disease (MOGAD). He discussed diagnosis and the importance of titers and live cell-based assays given possible false positives [00:02:42]. Dr. Chen reviewed acute management with early high-dose steroids, prolonged tapers, and escalation to plasma exchange for severe or steroid-refractory attacks, as well as evolving long-term options including IVIG/subcutaneous IG and IL-6 blockade [00:04:14]. Audience questions covered relapse prediction, vision recovery timelines, fatigue, pregnancy, heredity, symptom interpretation, and whether to stop immunotherapy when antibodies become undetectable [00:12:13]. Finally, Dr. Chen described current and upcoming research, including a trial that is currently enrolling participants, and future prospects for optic nerve regeneration while cautioning against unproven stem cell clinics [00:41:37].

John J. Chen, MD, PhD attended the University of Virginia for his undergraduate and combined MD/PhD degrees and completed his Ophthalmology residency and Neuro-Ophthalmology fellowship training at the University of Iowa. He then took a position at the Mayo Clinic in 2014 where he specializes in Neuro-Ophthalmology. Currently, he serves as a Consultant and Professor of Ophthalmology and Neurology, and Neuro-Ophthalmology Fellowship Director at the Mayo Clinic.

Among Dr. Chen’s awards and honors are the AAO Senior Achievement Award, Top Doctors in Minnesota, the Heed Fellowship, Real World Ophthalmology Inspiring Academic Leader Award, Ophthalmology Teacher of the Year Award four times leading to induction to the Educators Hall of Fame, and the Mayo Clinic Distinguished Educator Award – awarded to the top educator at Mayo Clinic in Rochester. He is an Associate Editor for Ophthalmology and the Journal of Neuro-Ophthalmology, has authored more than 250 peer-reviewed publications, and focuses his research on ophthalmic imaging, idiopathic intracranial hypertension, and optic neuritis, particularly NMOSD and MOG antibody–associated disease.

00:00 Welcome and Introductions

01:08 What Is MOGAD?

02:42 Causes and Triggers

03:23 How MOGAD Is Diagnosed

04:14 Acute Attack Treatments

06:35 Steroid Side Effects

08:13 Testing During Treatment

09:09 Long Term Therapies

12:13 Interpreting MOG Positivity

16:51 Eye Symptoms and Vision Fluctuations

20:12 Antibody Titers and Severity

21:19 Relapse Risk After First Attack

23:09 Seizures and Encephalitis

24:17 Vision Recovery After Optic Neuritis

25:13 Acute Treatment Window

25:57 Hereditary Risk Questions

26:35 Stopping Azathioprine Safely

29:56 Managing Post Attack Pain

30:16 Steroids IVIG and Plasma Exchange

32:08 Infections as Triggers

33:01 Retesting MOG Antibodies

35:01 Fatigue and Workup

36:23 Prognosis and Life Expectancy

37:45 Tinnitus and Brain Pressure

39:05 Pediatric and Pregnancy Concerns

41:37 Trials and Future Regeneration

46:05 Research Resources and Wrap Up

The "Community Meets Clinic" podcast series introduces clinicians and healthcare personnel specializing in rare neuroimmune disorders. In this episode hosted by Krissy Dilger of SRNA, we meet Dr. Elizabeth Wilson, a pediatric neurologist at Cincinnati Children’s Hospital and Director of its Multiple Sclerosis and Neuroimmunology Center. Dr. Wilson described her interest in individualized, longitudinal neuroimmunology care and the rapid evolution of treatments [01:47]. She highlighted her research on social determinants of health, including environmental stressors, caregiver impacts, and the roles of race and ethnicity in pediatric neuroinflammatory outcomes [05:21]. Dr. Wilson outlined how patients can self-refer or be referred, and described the center’s multidisciplinary model involving neuroimmunology, rheumatology, neuro-ophthalmology, neuropsychology, mental health, school support, social work, rehabilitation, and research resources [07:49]. She shared self-care strategies and expressed hope for faster diagnosis, earlier treatment, and biomarkers to better track disease activity and prevent attacks [13:31].

Elizabeth Wilson, MD is a pediatric neurologist at Cincinnati Children’s hospital with specialized training in neurology and neuroimmunology. She received a Bachelor of Science in Neurosicence from Lafayette College in Pennsylvania. She then completed medical school at Boston University, Pediatric residency at Boston Children’s Hospital/Boston Medical Center, and Pediatric neurology residency at Boston Medical Center. She went on to pursue a fellowship in Neuroimmunology at Massachusetts General Hospital/Boston Children’s Hospital. She recently became the director of the Multiple Sclerosis and Neuroimmunology Center (MS-NIC) at Cincinnati Children’s Hospital. Through her research she aims to understand how a patient’s environment, including life stressors, interacts with their body and genetics in inflammatory neurologic conditions, such as multiple sclerosis. She believes that by studying this relationship we can better manage these disorders and advocate for changes that will improve patient outcomes. You can view her medical profile here: https://www.cincinnatichildrens.org/bio/w/elizabeth-wilson

00:00 Introduction

01:47 Why Pediatric Neurology

03:27 Choosing Neuroimmunology

05:21 Research And Health Equity

07:49 Inside Cincinnati Children’s Hospital and the Multiple Sclerosis and Neuroimmunology Center

11:07 Multidisciplinary Team Support

13:31 Clinician Self Care

15:14 Considering The Clinic

17:29 Hope For The Future

18:50 Closing

In this SRNA “Ask the Expert” episode, Krissy Dilger of SRNA spoke with neuroimmunologist Dr. Shailee Shah about paraneoplastic neurologic syndromes—immune-mediated, “off-target” effects of cancer that can affect the brain, spinal cord, or peripheral nerves. Dr. Shah described updated diagnostic criteria and scoring that combine neurologic phenotypes, cancer risk, and high-risk autoantibodies, and she explained how immune checkpoint inhibitors can trigger immune-related neurologic adverse events that don’t always fit classic rules [00:01:48]. She reviewed how these syndromes differ from other autoimmune neurologic disorders and outlined common subacute presentations such as limbic encephalitis, brainstem encephalitis, cerebellar ataxia, seizures, and neuropathies [00:08:09]. Dr. Shah emphasized prompt evaluation with neurologic exam, MRI/EEG/EMG as appropriate, blood and CSF antibody testing, cancer screening, and coordinated oncologic and immunosuppressive treatment to prevent worsening disability [00:17:24].

Shailee Shah, MD is a Clinical Assistant Professor in the Neuroimmunology Division with Northwestern Medicine and Northwestern University. She is an autoimmune neurologist with expertise in the management of paraneoplastic and autoimmune neurological diseases. She also treats rare neuroimmunological diseases such as neuromyelitis optica and MOG associated disease. She is co-director of the Northwestern Medicine Paraneoplastic Neurological Disease Clinic.

00:00 Welcome and Guest Intro

00:58 What Is Paraneoplastic

01:48 New Criteria and Antibodies

04:59 Diagnostic Challenges and ICI

08:09 Paraneoplastic vs Autoimmune

10:22 How Common Are They

13:03 Early Symptoms to Watch

17:24 When to Seek Care

19:09 Testing and Workup

24:20 Paraneoplastic Myelitis

27:55 Delays and Specialty Centers

31:38 Cancer Link and Treatment

37:16 Changing Therapies

38:19 Recovery and Prognosis

39:58 Patient Advice and Hope

42:52 Closing

In SRNA’s Ask the Expert episode moderated by Krissy Dilger, Dr. Elena Grebenciucova described neuromyelitis optica spectrum disorder (NMOSD) symptoms including optic neuritis, transverse myelitis, brainstem syndromes, and intractable hiccups [00:01:05]. She outlined diagnostic evaluation using MRI and correct blood-based antibody testing (preferably cell-based assays), common diagnostic pitfalls, and the need to rule out infections before immunosuppressive treatment [07:08]. Dr. Grebenciucova reviewed urgent relapse management with IV steroids and early plasma exchange, side effects, long-term preventive therapies (FDA-approved and off-label) [14:02]. Finally, she answered community questions on supplements, chronic optic neuritis, rehab appeals, pain/spasticity, pregnancy planning, long-term treatment duration, mental health, seronegative syndromes, follow-up frequency, and recovery expectations [25:22].

Elena Grebenciucova, MD completed neurology residency at the University of Chicago in Chicago, Illinois. Dr. Grebenciucova has been interested in autoimmune disorders of the central nervous system, including rare neuroimmune disorders, since medical school. After residency, she completed a neuroimmunology Fellowship under the mentorship of Dr. Brenda Banwell and Joseph Berger at the Perelman School of Medicine of The University of Pennsylvania. Currently she is an assistant professor of Neurology (MS/Neuroimmunology) and neurological infections at Northwestern University in Chicago, Illinois, and she runs the Transverse Myelitis Center there. Dr Grebenciucova sees patients with rare autoimmune conditions including NMOSD, MOGAD, transverse myelitis, and autoimmune encephalitis.

00:00 Welcome and Introduction

01:05 What Is NMOSD?

01:59 Symptoms and Relapse Signs

03:27 What Causes NMOSD?

07:08 How NMOSD Is Diagnosed

10:09 Key Tests and Pitfalls

14:02 Acute Attack Treatment

17:18 Steroid Side Effects

22:19 Long-Term Therapies Worldwide

25:22 Community Questions, Beginning with Vitamins

27:40 Optic Neuritis Breakthroughs

28:47 Chronic Optic Nerve Inflammation

29:19 Winning Insurance Appeals

31:23 Waist Band Pain and Spasticity

34:04 Pregnancy and Family Planning

37:40 Stopping Long-Term Treatment

39:40 Long-Term Side Effects

43:04 Mood and Personality Changes

49:47 Trials for Seronegative NMOSD

52:55 Follow Up Visit Schedule

55:34 Relapse Recovery Timeline

58:02 Closing