Bio


Dr. Neelam Goyal earned her medical degree at SUNY Downstate in Brooklyn, NY. Subsequently, she completed her neurology residency, which included a chief year, followed by a fellowship year in neurophysiology, specializing in neuromuscular disorders and EMG nerve conduction studies at Stanford University Medical Hospital. After graduating, she joined the faculty of Stanford University School of Medicine in 2012 as a Clinical Assistant Professor of Neurology and Neurological Sciences in the division of Neuromuscular Medicine. She was later promoted to Clinical Associate Professor in 2020.

Dr. Goyal focuses on the diagnosis, management, and electrophysiological testing of neuromuscular disorders, including SFEMG. Her expertise extends to immune-mediated disorders such as myositis, myasthenia gravis, CIDP, and vasculitis. Her research interests involve monitoring and managing the short and long-term toxicity of immunosuppressive agents. She is actively involved in a grant-supported project investigating steroid toxicity in patients with myasthenia gravis.

Currently, she serves as the Wellbeing Co-Director for the Neurology Department, working on a grant-supported project aimed at mitigating the adverse impact of work on personal relationships. Additionally, she acts as a communication coach for the Neurology residency program. Dr. Goyal is involved in various committees within Stanford, including the Clinical Assistant Professor Appointment and Promotions Committee and Health Information Management Committee. She also participates in multiple committees within the American Association of Neuromuscular and Neurodiagnostic Medicine (AANEM). Notably, she serves as the chair of the Scientific Committee for the Myasthenia Gravis Foundation of America and provides advisory support on various steering committees related to Myasthenia Gravis Therapeutics.

Clinical Focus


  • Myasthenia Gravis
  • Inclusion body myositis
  • Neuromuscular Disorders
  • Neurology

Academic Appointments


Administrative Appointments


  • Co-Director, Wellbeing Director, Department of Neurology (2022 - Present)
  • Communication Coach, Stanford Neurology Residency Program (2022 - Present)
  • Member, Health Information Management Committee, Stanford Hospital & Clinics (2020 - Present)
  • Member, Clinical Assistant Professor Appointment and Promotions Committee, Office of Academic Affairs (2020 - Present)
  • Co-Director, Muscular Dystrophy Association Clinic, Stanford Hospital and Clinics (2016 - 2022)

Honors & Awards


  • Stanford Leadership Development Program, Stanford University School of Medicine (2020-2021)
  • Clinical Effectiveness Leadership Training, Stanford University School of Medicine (2019-2020)
  • Robert Fisher Resident Teacher of the Year, Stanford University (2011)
  • Alpha Omega Alpha Membership, SUNY Downstate (2006)

Boards, Advisory Committees, Professional Organizations


  • Chair, Scientific Committee, Myasthenia Gravis Foundation of America (2023 - Present)
  • Member, American Academy of Neurology (AAN) (2008 - Present)
  • Member, Education Resource Committee, AANEM (2019 - Present)
  • Member, American Association of Neuromuscular Medicine (AANEM) (2012 - Present)
  • Member, Workshop Committee, AANEM (2019 - 2022)
  • Member, Neuromuscular Medicine Self-Assessment Exam Committee, AANEM (2015 - 2018)
  • Member, Muscular Dystrophy Association (2012 - 2022)

Professional Education


  • Residency: Stanford University Dept of Neurology (2011) CA
  • Fellowship: Stanford University Clinical Neurophysiology Fellowship (2012) CA
  • Internship: Winthrop University Hospital Internal Medicine Residency (2008) NY
  • Medical Education: SUNY Downstate School of Medicine Registrar (2007) NY
  • Board Certification: American Association of Neuromuscular, Electrodiagnostic Medicine (2013)
  • Board Certification: American Board of Psychiatry and Neurology, Neurology (2011)

Current Research and Scholarly Interests


Dr. Goyal's research interests involve monitoring and managing the short and long-term toxicity of immunosuppressive agents used in the treatment of immune-mediated neuromuscular disorders. She is actively involved in a grant-supported project investigating steroid toxicity in patients with myasthenia gravis.

She also serves as the Wellbeing Co-Director for the Neurology Department, working on a grant-supported project aimed at mitigating the adverse impact of work on personal relationships.

Clinical Trials


  • A Study to Evaluate the Efficacy and Safety of ABC008 for Inclusion Body Myositis Not Recruiting

    A Phase II/III Randomized, Double-blind, Placebo-controlled, Multicenter Study to Determine the Efficacy and Safety of ABC008 in the Treatment of Subjects with Inclusion Body Myositis

    Stanford is currently not accepting patients for this trial. For more information, please contact Emily Lien, 650-407-7912.

    View full details

Projects


  • Developing Department-Wide Policies and Best Practices for Limiting Impact of Work on Physician Vacation Time, Stanford University (9/1/2023 - Present)

    Location

    Palo Alto, Ca

  • Assessing Glucocorticoid associated toxicity in Myasthenia Gravis using Glucocorticoid Toxicity Index (GTI), Stanford University (10/1/2023 - Present)

    Location

    Palo Alto, Ca

All Publications


  • Efgartigimod demonstrates consistent improvements in patients with generalized myasthenia gravis regardless of prior treatment failures Siddiqi, Z., Rozsa, C., Sacca, F., De Bleecker, J. L., Verschuuren, J., Hoffmann, S., Vu, T., Bril, V., Murai, H., Brauer, E., Kerstens, R., Steeland, S., Ulrichts, P., Goyal, N., Vissing, J., Mantegazza, R., Howard, J. F. ELSEVIER. 2023
  • Safety and outcomes with efgartigimod use for acetylcholine receptor-positive generalized myasthenia gravis in clinical practice. Muscle & nerve Katyal, N., Halldorsdottir, K., Govindarajan, R., Shieh, P., Muley, S., Reyes, P., Leung, K. K., Mullen, J., Milani-Nejad, S., Korb, M., Goyal, N. A., Mozaffar, T., Goyal, N., Habib, A. A., Muppidi, S. 2023

    Abstract

    Multiple novel therapies have been approved for patients with myasthenia gravis. Our aim is to describe the early experience of efgartigimod use in acetylcholine receptor antibody-positive generalized myasthenia gravis (AChR+ve gMG).This multicenter retrospective study included AChR+ve gMG patients from five major neuromuscular centers who were treated with efgartigimod and had both pre- and post-efgartigimod myasthenia gravis activities of daily living (MG-ADL) scores. Information regarding MG history, concomitant treatment(s), MG-ADL and other MG-specific measures, laboratory data, and adverse events were recorded.A total of 37 patients (M:23, F:14) with a mean age of 65.56 (±14.74) y were included in this cohort. A total of 36/37 patients completed at least one cycle and 28 patients completed at least two cycles of efgartigimod. A total of 72% (26/36) of patients had a clinically meaningful reduction (≥2 point change) in MG-ADL after the completion of the first cycle of efgartigimod (mean pre-efgartigimod 8.02) (±3.09) versus post-efgartigimod 4.33 (±3.62). Twenty-five percent (9/36) achieved minimal symptom expression status after one cycle and 25% (7/28) after the second cycle. Treatment benefit was sustained after cycle 2. Three out of four patients with thymoma in this cohort had clinically significant reductions in MG-ADL scores. Immunoglobulin G (IgG) levels decreased by about 60% (n = 10). One patient had a relapse of Clostridium difficile infection resulting in the discontinuation of therapy. Four patients had mild side effects.Efgartigimod led to clinically meaningful improvement in MG-ADL in diverse AChR+ve gMG patients but treatment frequency to achieve optimal symptom control needs to be explored.

    View details for DOI 10.1002/mus.27974

    View details for PubMedID 37695277

  • Scapular Winging In Patients With Anti-Hydroxy Methyl Glutaryl CoA Reductase (HMGCR) Antibody Positive Immune Mediated Necrotizing Myopathy (IMNM): A Case Series Katyal, N., Goyal, N. LIPPINCOTT WILLIAMS & WILKINS. 2023
  • Clinical Experience With Efgartigimod For Treatment Of Acetylcholine Receptor Antibody Positive Generalized Myasthenia Gravis Katyal, N., Halldorsdottir, K., Goyal, N., Govindarajan, R., Muppidi, S., Habib, A. LIPPINCOTT WILLIAMS & WILKINS. 2023
  • Response to "Polyradiculitis Complicating SARS-CoV-2 Vaccinations is Not Infrequent". The Neurohospitalist Lanman, T., Wu, C., Cheung, H., Goyal, N., Greene, M. 2023; 13 (2): 210-211

    View details for DOI 10.1177/19418744221138634

    View details for PubMedID 37064923

    View details for PubMedCentralID PMC10091430

  • Current status of clinical outcome measures in inclusion body myositis: a systematised review. Clinical and experimental rheumatology Roy, B., Lucchini, M., Lilleker, J. B., Goyal, N. A., Naddaf, E., Adler, B., Alfano, L. N., Malandraki, G. A., Focht Garand, K. L., Mochel, D., Badrising, U., Machado, P. M., Pagkatipunan, R., Wang, L., Funaro, M. C., Schmidt, J., Kushlaf, H., Schiopu, E., Stipancic, K., Goyal, N., d'Alessandro, M., Conticini, E., Cruz-Coble, B., Lloyd, T. E., International Myositis Assessment and Clinical Studies (IMACS) Inclusion Body Myositis Scientific Interest Group 2023

    Abstract

    OBJECTIVES: Sporadic inclusion body myositis (IBM) is a debilitating idiopathic inflammatory myopathy (IIM) which affects hand function, ambulation, and swallowing. There is no approved pharmacological therapy for IBM, and there is a lack of suitable outcome measure to assess the effect of an intervention. The IBM scientific interest group under IMACS reviewed the previously used outcome measures in IBM clinical studies to lay the path for developing a core set of outcome measures in IBM.METHODS: In this systematised review, we have extracted all outcome measures reported in IBM clinical studies to determine what measures were being used and to assess the need for optimising outcome measures in IBM.RESULTS: We found 13 observational studies, 17 open-label clinical trials, and 15 randomised control trials (RCTs) in IBM. Six-minute walk distance, IBM-functional rating scale (IBM-FRS), quantitative muscle testing, manual muscle testing, maximal voluntary isometric contraction testing, and thigh muscle volume measured by MRI were used as primary outcome measures. Twelve different outcome measures of motor function were used in IBM clinical trials. IBM-FRS was the most used measure of functionality. Swallowing function was reported as a secondary outcome measure in only 3 RCTs.CONCLUSIONS: There are inconsistencies in using outcome measures in clinical studies in IBM. The core set measures developed by the IMACS group for other IIMs are not directly applicable to IBM. As a result, there is an unmet need for an IBM-specific core set of measures to facilitate the evaluation of new potential therapeutics for IBM.

    View details for DOI 10.55563/clinexprheumatol/ifacv3

    View details for PubMedID 36762744

  • Current status of clinical outcome measures in inclusion body myositis: a systematised review CLINICAL AND EXPERIMENTAL RHEUMATOLOGY Roy, B., Lucchini, M., Lilleker, J. B., Goyal, N. A., Naddaf, E., Adler, B., Alfano, L. N., Malandraki, G. A., Garand, K., Mochel, D., Badrising, U., Machado, P. M., Pagkatipunan, R., Ramdharry, G., Wang, L., Funaro, M. C., Schmidt, J., Kushlaf, H., Schiopu, E., Stipancic, K., Goyal, N., d'Alessandro, M., Conticini, E., Cruz-Coble, B., Lloyd, T. E., Int Myositis Assessment Clin 2023; 41 (2): 370-378
  • Response to "Polyradiculitis Complicating SARS-CoV-2 Vaccinations is Not Infrequent" NEUROHOSPITALIST Lanman, T., Wu, C., Cheung, H., Goyal, N., Greene, M. 2022
  • Improving Patient Outcomes through Standardized Protocols when prescribing Glucocorticoids Chang, T., Post, D., Goyal, N. LIPPINCOTT WILLIAMS & WILKINS. 2022
  • IMPROVING PATIENT OUTCOMES THROUGH STANDARDIZED PROTOCOLS WHEN PRESCRIBING GLUCOCORTICOIDS Goyal, N., Chang, T. WILEY. 2022: S23
  • Guillain-Barre Syndrome with Rapid Onset and Autonomic Dysfunction Following First Dose of Pfizer-BioNTech COVID-19 Vaccine: A Case Report NEUROHOSPITALIST Lanman, T., Wu, C., Cheung, H., Goyal, N., Greene, M. 2022
  • Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices NEUROLOGY-GENETICS Wencel, M., Shaibani, A., Goyal, N. A., Dimachkie, M. M., Trivedi, J., Johnson, N. E., Gutmann, L., Wicklund, M. P., Bandyopadhay, S., Genge, A. L., Freimer, M. L., Goyal, N., Pestronk, A., Florence, J., Karam, C., Ralph, J. W., Rasheed, Z., Hays, M., Hopkins, S., Mozaffar, T., IPaNeMA Study Grp 2021; 7 (6)
  • Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study. Neurology. Genetics Wencel, M., Shaibani, A., Goyal, N. A., Dimachkie, M. M., Trivedi, J., Johnson, N. E., Gutmann, L., Wicklund, M. P., Bandyopadhay, S., Genge, A. L., Freimer, M. L., Goyal, N., Pestronk, A., Florence, J., Karam, C., Ralph, J. W., Rasheed, Z., Hays, M., Hopkins, S., Mozaffar, T. 2021; 7 (6): e623

    Abstract

    We investigated the prevalence of late-onset Pompe disease (LOPD) in patients presenting to 13 academic, tertiary neuromuscular practices in the United States and Canada.All successive patients presenting with proximal muscle weakness or isolated hyperCKemia and/or neck muscle weakness to these 13 centers were invited to participate in the study. Whole blood was tested for acid alpha-glucosidase (GAA) assay through the fluorometric method, and all cases with enzyme levels of ≤10 pmoL/punch/h were reflexed to molecular testing for mutations in the GAA gene. Clinical and demographic information was abstracted from their clinical visit and, along with study data, entered into a purpose-built REDCap database, and analyzed at the University of California, Irvine.GAA enzyme assay results were available on 906 of the 921 participants who consented for the study. LOPD was confirmed in 9 participants (1% prevalence). Another 9 (1%) were determined to have pseudodeficiency of GAA, whereas 19 (1.9%) were found to be heterozygous for a pathogenic GAA mutation (carriers). Of the definite LOPD participants, 8 (89%) were Caucasian and were heterozygous for the common leaky (IVS1) splice site mutation in the GAA gene (c -32-13T>G), with a second mutation that was previously confirmed to be pathogenic.The prevalence of LOPD in undiagnosed patients meeting the criteria of proximal muscle weakness, high creatine kinase, and/or neck weakness in academic, tertiary neuromuscular practices in the United States and Canada is estimated to be 1%, with an equal prevalence rate of pseudodeficiency alleles.Clinical trial registration number: NCT02838368.

    View details for DOI 10.1212/NXG.0000000000000623

    View details for PubMedID 36299500

    View details for PubMedCentralID PMC9595038

  • Long-term safety and efficacy of eculizumab in generalized myasthenia gravis. Muscle & nerve Muppidi, S., Utsugisawa, K., Benatar, M., Murai, H., Barohn, R. J., Illa, I., Jacob, S., Vissing, J., Burns, T. M., Kissel, J. T., Nowak, R. J., Andersen, H., Casasnovas, C., De Bleecker, J. L., Vu, T. H., Mantegazza, R., O'Brien, F. L., Wang, J. J., Fujita, K. P., Howard, J. F., REGAIN Study Group, Mazia, C. G., Wilken, M., Barroso, F., Saba, J., Rugiero, M., Bettini, M., Chaves, M., Vidal, G., Garcia, A. D., Van den Abeele, G., de Koning, K., De Mey, K., Mercelis, R., Mahieu, D., Wagemaekers, L., Van Damme, P., Depreitere, A., Schotte, C., Smetcoren, C., Stevens, O., Van Daele, S., Vandenbussche, N., Vanhee, A., Verjans, S., Vynckier, J., D'Hondt, A., Tilkin, P., Alves de Siqueira Carvalho, A., Dias Brockhausen, I., Feder, D., Ambrosio, D., Cesar, P., Melo, A. P., Martins Ribeiro, R., Rocha, R., Bezerra Rosa, B., Veiga, T., da Silva, L. A., Santos Engel, M., Goncalves Geraldo, J., Ananias Morita, M. d., Nogueira Coelho, E., Paiva, G., Pozo, M., Prando, N., Martineli Torres, D. D., Butinhao, C. F., Duran, G., Gomes da Silva, T. C., Otavio Maia Goncalves, L., Pazetto, L. E., Fialho, T. A., Renata Cubas Volpe, L., Souza Duca, L., Gheller Friedrich, M. A., Guerreiro, A., Mohr, H., Pereira Martins, M., da Cruz Pacheco, D., Ferreira, L., Macagnan, A. P., Pinto, G., Santos, A. d., Souza Bulle Oliveira, A., Amaral Andrade, A. C., Annes, M., Duarte Silva, L., Cavalcante Lino, V., Pinto, W., Assis, N., Carrara, F., Miranda, C., Souza, I., Fernandes, P., Siddiqi, Z., Phan, C., Narayan, J., Blackmore, D., Mallon, A., Roderus, R., Watt, E., Vohanka, S., Bednarik, J., Chmelikova, M., Cierny, M., Toncrova, S., Junkerova, J., Kurkova, B., Reguliova, K., Zapletalova, O., Pitha, J., Novakova, I., Tyblova, M., Jurajdova, I., Wolfova, M., Harbo, T., Vinge, L., Krogh, S., Mogensen, A., Hojgaard, J., Witting, N., Ostergaard Autzen, A., Pedersen, J., Eralinna, J., Laaksonen, M., Oksaranta, O., Harrison, T., Eriksson, J., Rozsa, C., Horvath, M., Lovas, G., Matolcsi, J., Szabo, G., Jakab, G., Szabadosne, B., Vecsei, L., Dezsi, L., Varga, E., Konyane, M., Antonini, G., Di Pasquale, A., Garibaldi, M., Morino, S., Troili, F., Fionda, L., Filla, A., Costabile, T., Marano, E., Sacca, F., Fasanaro, A., Marsili, A., Puorro, G., Antozzi, C., Bonanno, S., Camera, G., Locatelli, A., Maggi, L., Pasanisi, M., Campanella, A., Evoli, A., Alboini, P. E., D'Amato, V., Iorio, R., Inghilleri, M., Fionda, L., Frasca, V., Giacomelli, E., Gori, M., Lopergolo, D., Onesti, E., Frasca, V., Gabriele, M., Uzawa, A., Kanai, T., Kawaguchi, N., Mori, M., Kaneko, Y., Kanzaki, A., Kobayashi, E., Masaki, K., Matsuse, D., Matsushita, T., Uehara, T., Shimpo, M., Jingu, M., Kikutake, K., Nakamura, Y., Sano, Y., Nagane, Y., Kamegamori, I., Tsuda, T., Fujii, Y., Futono, K., Ozawa, Y., Mizugami, A., Saito, Y., Suzuki, H., Morikawa, M., Samukawa, M., Kamakura, S., Miyawaki, E., Shiraishi, H., Mitazaki, T., Motomura, M., Mukaino, A., Yoshimura, S., Asada, S., Yoshida, S., Amamoto, S., Kobashikawa, T., Koga, M., Maeda, Y., Takada, K., Takada, M., Tsurumaru, M., Yamashita, Y., Suzuki, Y., Akiyama, T., Narikawa, K., Tano, O., Tsukita, K., Kurihara, R., Meguro, F., Fukuda, Y., Sato, M., Okumura, M., Funaka, S., Kawamura, T., Makamori, M., Takahashi, M., Taichi, N., Hasuike, T., Higuchi, E., Kobayashi, H., Osakada, K., Imai, T., Tsuda, E., Shimohama, S., Hayashi, T., Hisahara, S., Kawamata, J., Murahara, T., Saitoh, M., Suzuki, S., Yamamoto, D., Ishiyama, Y., Ishiyama, N., Noshiro, M., Takeyama, R., Uwasa, K., Yasuda, I., van der Kooi, A., de Visser, M., Gibson, T., Kim, B., Lee, C. N., Koo, Y. S., Seok, H. Y., Kang, H. N., Ra, H., Kim, B. J., Cho, E. B., Choi, M., Lee, H., Min, J., Seok, J., Lee, J., Koh, D. Y., Kwon, J., Park, S., Choi, E. H., Hong, Y., Ahn, S., Koo, D. L., Lim, J., Shin, C. W., Hwang, J. Y., Kim, M., Kim, S. M., Jeong, H., Jung, J., Kim, Y., Lee, H. S., Shin, H. Y., Hwang, E. B., Shin, M., Alberti Aguilo, M. A., Homedes-Pedret, C., Julia Palacios, N., Diez Porras, L., Velez Santamaria, V., Lazaro, A., Diez Tejedor, E., Gomez Salcedo, P., Fernandez-Fournier, M., Lopez Ruiz, P., Rodriguez de Rivera, F. J., Sastre, M., Gamez, J., Sune, P., Salvado, M., Gili, G., Mazuela, G., Cortes Vicente, E., Diaz-Manera, J., Querol Gutierrez, L. A., Rojas Garcia, R., Vidal, N., Arribas-Ibar, E., Piehl, F., Hietala, A., Bjarbo, L., Sengun, I., Meherremova, A., Ozcelik, P., Balkan, B., Tuga, C., Ugur, M., Erdem-Ozdamar, S., Bekircan-Kurt, C. E., Acar, N. P., Yilmaz, E., Caliskan, Y., Orsel, G., Efendi, H., Aydinlik, S., Cavus, H., Kutlu, A., Becerikli, G., Semiz, C., Tun, O., Terzi, M., Dogan, B., Onar, M. K., Sen, S., Kirbas Cavdar, T., Veske, A., Norwood, F., Dimitriou, A., Gollogly, J., Mahdi-Rogers, M., Seddigh, A., Sokratous, G., Maier, G., Sohail, F., Sadalage, G., Torane, P., Brown, C., Shah, A., Sathasivam, S., Arndt, H., Davies, D., Watling, D., Amato, A., Cochrane, T., Salajegheh, M., Roe, K., Amato, K., Toska, S., Wolfe, G., Silvestri, N., Patrick, K., Zakalik, K., Katz, J., Miller, R., Engel, M., Forshew, D., Bravver, E., Brooks, B., Plevka, S., Burdette, M., Cunningham, S., Sanjak, M., Kramer, M., Nemeth, J., Schommer, C., Tierney, S., Juel, V., Guptill, J., Hobson-Webb, L., Massey, J., Beck, K., Carnes, D., Loor, J., Anderson, A., Pascuzzi, R., Bodkin, C., Kincaid, J., Snook, R., Guingrich, S., Micheels, A., Chaudhry, V., Corse, A., Mosmiller, B., Kelley, A., Ho, D., Srinivasan, J., Vytopil, M., Jara, J., Ventura, N., Scala, S., Carter, C., Donahue, C., Herbert, C., Weiner, E., Alam, S., McKinnon, J., Haar, L., McKinnon, N., Alcon, K., McKenna, K., Sattar, N., Daniels, K., Jeffery, D., Freimer, M., Hoyle, J. C., Agriesti, J., Chelnick, S., Mezache, L., Pineda, C., Muharrem, F., Karam, C., Khoury, J., Marburger, T., Kaur, H., Dimitrova, D., Gilchrist, J., Agrawal, B., Elsayed, M., Kohlrus, S., Andoin, A., Darnell, T., Golden, L., Lokaitis, B., Seelback, J., Goyal, N., Sakamuri, S., So, Y. T., Paulose, S., Pol, S., Welsh, L., Bhavaraju-Sanka, R., Tobon Gonzales, A., Dishman, L., Jones, F., Gonzalez, A., Padilla, P., Saklad, A., Silva, M., Nations, S., Trivedi, J., Hopkins, S., Kazamel, M., Alsharabati, M., Lu, L., Nozaki, K., Mumfrey-Thomas, S., Woodall, A., Mozaffar, T., Cash, T., Goyal, N., Roy, G., Mathew, V., Maqsood, F., Minton, B., Jones, H. J., Rosenfeld, J., Garcia, R., Echevarria, L., Garcia, S., Pulley, M., Aranke, S., Berger, A. R., Shah, J., Shabbir, Y., Smith, L., Varghese, M., Gutmann, L., Gutmann, L., Jerath, N., Nance, C., Swenson, A., Olalde, H., Kressin, N., Sieren, J., Dimachkie, M., Glenn, M., McVey, A., Pasnoor, M., Statland, J., Wang, Y., Liu, T., Emmons, K., Jenci, N., Locheke, J., Fondaw, A., Johns, K., Rico, G., Walsh, M., Herbelin, L., Hafer-Macko, C., Kwan, J., Zilliox, L., Callison, K., Young, V., DiSanzo, B., Naunton, K., Bilsker, M., Sharma, K., Cooley, A., Reyes, E., Michon, S., Sheldon, D., Steele, J., Karam, C., Chopra, M., Traub, R., Katzin, L., McClain, T., Harvey, B., Hart, A., Huynh, K., Beydoun, S., Chilingaryan, A., Doan, V., Droker, B., Gong, H., Karimi, S., Lin, F., McClain, T., Pokala, K., Shah, A., Tran, A., Akhter, S., Malekniazi, A., Tandan, R., Hehir, M., Waheed, W., Lucy, S., Weiss, M., Distad, J., Strom, S., Downing, S., Kim, B., Bertorini, T., Arnold, T., Hendersen, K., Pillai, R., Liu, Y., Wheeler, L., Hewlett, J., Vanderhook, M., Dicapua, D., Keung, B., Kumar, A., Patwa, H., Robeson, K., Yang, I., Nye, J., Vu, H. 2019

    Abstract

    INTRODUCTION: Eculizumab is effective and well tolerated in patients with anti-acetylcholine receptor antibody-positive refractory generalized myasthenia gravis (gMG; REGAIN; NCT01997229). We report an interim analysis of an open-label extension of REGAIN evaluating eculizumab's long-term safety and efficacy.METHODS: 117 patients received eculizumab (1,200 mg every 2 weeks) for 22.7 months (median).RESULTS: The safety profile of eculizumab was consistent with REGAIN; no cases of meningococcal infection were reported during the interim analysis period. MG exacerbation rate was reduced by 75% from the year before REGAIN (p<0.0001). Improvements with eculizumab in activities of daily living, muscle strength, functional ability and quality of life in REGAIN were maintained through 3 years; 56% of patients achieved minimal manifestations or pharmacological remission. Patients who received placebo during REGAIN experienced rapid and sustained improvements during open-label eculizumab (p<0.0001).DISCUSSION: These findings demonstrate the long-term safety and sustained efficacy of eculizumab for refractory gMG. This article is protected by copyright. All rights reserved.

    View details for PubMedID 30767274

  • Making sense of antisense oligonucleotides: A narrative review MUSCLE & NERVE Goyal, N., Narayanaswami, P. 2018; 57 (3): 356–70

    Abstract

    Synthetic nucleic acid sequences that bind to ribonucleic acid (RNA) through Watson-Crick base pairing are known as antisense oligonucleotides (ASOs) because they are complementary to "sense strand" nucleic acids. ASOs bind to selected sequences of RNA and regulate the expression of genes by several mechanisms depending on their chemical properties and targets. They can be used to restore deficient protein expression, reduce the expression of a toxic protein, modify functional effects of proteins, or reduce toxicity of mutant proteins. Two ASOs were approved by the U.S. Food and Drug Administration in 2016: eteplirsen for Duchenne muscular dystrophy and nusinersen for spinal muscular atrophy. Clinical trials in amyotrophic lateral sclerosis and familial amyloid polyneuropathy are ongoing. We review the chemistry, pharmacology, and mechanisms of action of ASOs, preclinical data, and clinical trials in neuromuscular diseases and discuss some ethical, regulatory, and policy considerations in the clinical development and use of ASOs. Muscle Nerve 57: 356-370, 2018.

    View details for PubMedID 29105153