Research Publications
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Bril V, Drużdż A, Grosskreutz J, Habib AA, Kaminski HJ, Mantegazza R, Sacconi S, Utsugisawa K, Vu T, Boehnlein M, Gayfieva M, Greve B, Woltering F, Vissing J; MG0004 study investigators. Safety and efficacy of chronic weekly rozanolixizumab in generalized myasthenia gravis: the randomized open-label extension MG0004 study. J Neurol. 2025 Mar 19;272(4):275. doi: 10.1007/s00415-025-12958-9.
Sabatelli E, Bonagura L, Falso S, Marini S, Papi C, Campetella L, De Maio MM, Iorio R. Light Sensitivity in Myasthenia Gravis: Clinical Characteristics and Impact on Quality of Life. Muscle Nerve. 2025 Mar 5. doi: 10.1002/mus.28386. Online ahead of print.
Chen J, Su C, Feng H, Kaminski HJ. Can Non-Thymomatous Late-Onset Myasthenia Gravis Benefit From Thymectomy? A Systematic Review and Meta-Analysis. Eur J Neurol. 2025 Mar;32(3):e70048. doi: 10.1111/ene.70048.
AlGaeed M, McPherson T, Lee I, Feese M, Aban I, Cutter G, Kaminski HJ, Karroum EG. Prevalence of restless legs and association with patient-reported outcome measures in myasthenia gravis. J Clin Sleep Med. 2025 Feb 1;21(2):269-276. doi: 10.5664/jcsm.11386.
Garbey M, Lesport Q, Girma H, Öztosun G, Abu-Rub M, Guidon AC, Juel V, Nowak RJ, Soliven B, Aban I, Kaminski HJ. Application of digital tools and artificial intelligence in the Myasthenia Gravis Core Examination. Front Neurol. 2024 Dec 4;15:1474884. doi: 10.3389/fneur.2024.1474884. eCollection 2024.
Falso S, Marini S, Carrozza C, Sabatelli E, Mascagna G, Marini M, Morroni J, Evoli A, Iorio R. Concordance between radioimmunoassay and fixed cell-based assay in subjects without myasthenia gravis: optimizing the diagnostic approach. Eur J Neurol. 2024 Dec;31(12):e16435. doi: 10.1111/ene.16435. Epub 2024 Aug 8. PMID: 39118440; PMCID: PMC11554847.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles, causing disabling weakness. Acetylcholine receptor antibody detection is crucial for MG diagnosis. Currently, radioimmunoassay is the gold-standard test used to measure the concentration of acetylcholine receptor antibodies. However, this test may detect false positives for nonpathogenic antibodies.
In this study, researchers compared the accuracy of radioimmunoassay and fixed cell-based assay for MG diagnosis. First, the team reviewed medical records of 605 patients who tested positive for acetylcholine receptor antibodies via radioimmunoassay and confirmed these results. Next, the team retested asymptomatic patients via fixed cell-based assay to determine whether this method would show higher accuracy in detecting pathogenic antibodies.
Results show that, in rare cases, fixed cell-based assay may be more specific than radioimmunoassay in detecting pathogenic antibodies. Authors note that fixed cell-based assay may be performed as an additional tool to increase diagnostic accuracy when clinical presentation and electrodiagnostic studies are found to be atypical for MG.
Spagni G, Vincent A, Sun B, Falso S, Jacobson LW, Devenish S, Evoli A, Damato V. Serological Markers of Clinical Improvement in MuSK Myasthenia Gravis. Neurol Neuroimmunol Neuroinflamm. 2024 Nov;11(6):e200313. doi: 10.1212/NXI.0000000000200313. Epub 2024 Sep 9.
Lesport Q, Palmie D, Öztosun G, Kaminski HJ, Garbey M. AI-Powered Telemedicine for Automatic Scoring of Neuromuscular Examinations. Bioengineering (Basel). 2024 Sep 20;11(9):942. doi: 10.3390/bioengineering11090942.
Falso S, Gessi M, Marini S, Benvenuto R, Sabatelli E, D'Amati A, Marini M, Evoli A, Iorio R. Cancer Frequency in MuSK Myasthenia Gravis and Histological Evidence of Paraneoplastic Etiology. Ann Neurol. 2024 Jul 15. doi: 10.1002/ana.27033. Epub ahead of print. PMID: 39007444.
Muscle-specific kinase myasthenia gravis (MuSK-MG) is an autoimmune disorder caused by antibodies targeting the muscle-specific kinase (MuSK), causing muscle weakness. Although neurological autoimmunity can potentially increase the risk of cancer, not much is known about cancer rates among patients with MuSK-MG.
In this study, researchers explored the frequency and timing of cancer in patients with MuSK-MG. The team reviewed records of 94 patients, recording information about diagnosis and treatment of associated cancers. In two patients with MuSK-MG onset after cancer diagnosis, researchers performed immunohistochemistry to assess MuSK expression in cancer cells of tumor specimens.
Assessment of tumor specimens revealed strong nuclear expression of the MuSK protein in cancer cells. These findings suggest a new pathway in the formation of tumors as well as a potential therapeutic target. Authors note that this preliminary study needs to be replicated in a much larger cohort of patients to determine if cancers could be a trigger for MuSK MG.
Kaminski HJ, Sikorski P, Coronel SI, Kusner LL. Myasthenia gravis: the future is here. J Clin Invest. 2024 Jun 17;134(12):e179742. doi: 10.1172/JCI179742. PMCID: PMC11178544.
Myasthenia gravis (MG) is a rare neuromuscular disorder that occurs when the body’s immune system attacks the nerve-muscle communication point, causing disabling weakness. Over the past few decades, understanding of MG has progressed significantly, leading to the development of new therapies.
In this review paper, researchers discuss the current understanding of pathophysiology and new therapies in MG. The team covers the various subgroups of MG as well as emerging therapeutic strategies. Authors note that these insights shed light on the evolving landscape of MG treatment and exciting prospects for further research.
Li Y, Yi JS, Guptill JT, Juel VC, Hobson-Webb L, Raja SM, Karatz T, Gable KL. Immune dysregulation in chronic inflammatory demyelinating polyneuropathy. J Neuroimmunol. 2024 Jun 15;391:578360. doi: 10.1016/j.jneuroim.2024.578360. Epub 2024 May 5.
Bodansky A, Yu DJ, Rallistan A, Kalaycioglu M, Boonyaratanakornkit J, Green DJ, Gauthier J, Turtle CJ, Zorn K, O'Donovan B, Mandel-Brehm C, Asaki J, Kortbawi H, Kung AF, Rackaityte E, Wang CY, Saxena A, de Dios K, Masi G, Nowak RJ, O'Connor KC, Li H, Diaz VE, Saloner R, Casaletto KB, Gontrum EQ, Chan B, Kramer JH, Wilson MR, Utz PJ, Hill JA, Jackson SW, Anderson MS, DeRisi JL. Unveiling the proteome-wide autoreactome enables enhanced evaluation of emerging CAR T cell therapies in autoimmunity. J Clin Invest. 2024 May 16;134(13):e180012. doi: 10.1172/JCI180012. PMID: 38753445; PMCID: PMC11213466.
Autoimmune diseases are a group of conditions caused by a dysregulated immune system that attacks and damages the body. As autoimmune diseases have become increasingly more common, new therapies have emerged. However, how they specifically alter the immune system is not well understood.
In this study, researchers studied the circulating autoantibody repertoire to further understand the effect of therapies used for autoimmune diseases. Leveraging a custom set of over 730,000 human-derived peptides (short chains of amino acids), the team explored variations in autoantibody profiles across individuals who were treated with different immune-modulating therapies.
Results show that each individual—regardless of disease state—has a distinct and complex set of autoantibodies, which creates a unique immunological footprint researchers call the “autoreactome” that remains surprisingly stable over many years. The team found that therapies targeting B cell maturation antigen (BCMA) greatly altered an individual’s autoreactome, while anti-CD19 and anti-CD20 therapies, which deplete B cells, had minimal effects. Authors note that these findings suggest the potential for BCMA therapy in treating autoantibody diseases that are resistant to current therapies.
Yandamuri SS, Filipek B, Lele N, Cohen I, Bennett JL, Nowak RJ, Sotirchos ES, Longbrake EE, Mace EM, O'Connor KC. A Noncanonical CD56dimCD16dim/− NK Cell Subset Indicative of Prior Cytotoxic Activity Is Elevated in Patients with Autoantibody-Mediated Neurologic Diseases. J Immunol. 2024 Mar 1;212(5):785-800. doi: 10.4049/jimmunol.2300015. PMID: 38251887; PMCID: PMC10932911.
Neuromyelitis optica spectrum disorder (NMOSD), myelin oligodendrocyte glycoprotein Ab disease, and autoimmune myasthenia gravis (MG) are autoantibody-mediated autoimmune diseases. Autoantibodies can cause a type of immune reaction called Ab-dependent cellular cytotoxicity (ADCC) involving natural killer (NK) cells. However, it is not known whether ADCC contributes to disease development in patients with these conditions.
In this study, researchers investigated the characteristics of circulating NK cells in patients with NMOSD, myelin oligodendrocyte glycoprotein Ab disease, and MG. The team used functional assays, phenotyping, and transcriptomics to explore the role of NK cells in these diseases.
Results show elevated subsets of NK cells in patients with NMOSD and MG. Authors note that this elevation suggests prior ADCC activity occurring in the affected tissues.
Macaluso M, Rothenberg ME, Ferkol T, Kuhnell P, Kaminski HJ, Kimberlin DW, Benatar M, Chehade M; Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4. Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey. JMIR Public Health Surveill. 2024 Feb 14;10:e48430. doi: 10.2196/48430.
Vega Prado I, Shymansky J, Apte A, Mortman K, Kaminski HJ, Barak S. A Rare Case of Metaplastic Thymoma Presenting With Myasthenia Gravis. Int J Surg Pathol. 2024 Feb;32(1):155-159. doi: 10.1177/10668969231168344. Epub 2023 Apr 24.
Iorio R. Myasthenia gravis: the changing treatment landscape in the era of molecular therapies. Nat Rev Neurol. 2024 Feb;20(2):84-98. doi: 10.1038/s41582-023-00916-w. Epub 2024 Jan 8. PMID: 38191918.
Myasthenia gravis (MG) is a rare neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors (AChRs) or muscle-specific kinase (MuSK) on muscles. To date, the standard therapy for MG has relied on acetylcholinesterase inhibitors, corticosteroids, and immunosuppressants. These therapies have shown good efficacy in improving MG-related symptoms in most individuals. However, they can also cause long-term adverse effects, and up to 15% of individuals with MG show limited or no response.
This review paper provides a comprehensive overview of emerging molecular therapies for MG. The author discusses progress in therapies associated with AChR antibodies and MuSK antibodies, including both challenges and opportunities.
The author notes that molecular therapies have the potential to revolutionize the MG treatment landscape, unlocking new potential for personalized medicine approaches.
Farina A, Villagrán-García M, Vogrig A, Zekeridou A, Muñiz-Castrillo S, Velasco R, Guidon AC, Joubert B, Honnorat J. Neurological adverse events of immune checkpoint inhibitors and the development of paraneoplastic neurological syndromes. Lancet Neurol. 2024 Jan;23(1):81-94. doi: 10.1016/S1474-4422(23)00369-1.
Bodansky A, Yu DJ, Rallistan A, Kalaycioglu M, Boonyaratanakornkit J, Green DJ, Gauthier J, Turtle CJ, Zorn K, O'Donovan B, Mandel-Brehm C, Asaki J, Kortbawi H, Kung AF, Rackaityte E, Wang CY, Saxena A, de Dios K, Masi G, Nowak RJ, O'Connor KC, Li H, Diaz VE, Casaletto KB, Gontrum EQ, Chan B, Kramer JH, Wilson MR, Utz PJ, Hill JA, Jackson SW, Anderson MS, DeRisi JL. Unveiling the autoreactome: Proteome-wide immunological fingerprints reveal the promise of plasma cell depleting therapy. medRxiv. 2023 Dec 20:2023.12.19.23300188. doi: 10.1101/2023.12.19.23300188.
Spagni G, Gastaldi M, Businaro P, Chemkhi Z, Carrozza C, Mascagna G, Falso S, Scaranzin S, Franciotta D, Evoli A, Damato V. Comparison of Fixed and Live Cell-Based Assay for the Detection of AChR and MuSK Antibodies in Myasthenia Gravis. Neurol Neuroimmunol Neuroinflamm. 2022 Oct 21;10(1):e200038. doi: 10.1212/NXI.0000000000200038. PMID: 36270951; PMCID: PMC9621337.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors (AChRs) in muscles. Double seronegative myasthenia gravis (dSN-MG) is a type of MG where patients do not have detectable AChRs or muscle-specific tyrosine kinase (MuSK) antibodies, which are two of the most common antibody markers for MG. In some patients with dSN-MG, a technique called cell-based assay (CBA) can be used to detect these antibodies. However, research comparing fixed and live CBA is lacking.
In this study, the research group of MGNet Pilot Awardee Valentina Damato, MD, PhD, compared the performance of fixed and live CBAs in serum samples from 192 patients with radioimmunoassay (RIA)-dSN-MG and 100 control subjects. The team also assessed the sensitivity and specificity of these techniques in RIA-positive MG samples.
Results show that fixed CBA represents a valuable alternative to RIA for AChR and MuSK antibody detection in patients with MG. Authors note that fixed CBA could be considered as a first-step diagnostic test, while live CBA can be useful in serologic testing of RIA- and fixed CBA-negative samples.
Sikorski P, Li Y, Cheema M, Wolfe GI, Kusner LL, Aban I, Kaminski HJ. Serum metabolomics of treatment response in myasthenia gravis. PLoS One. 2023 Oct 10;18(10):e0287654. doi: 10.1371/journal.pone.0287654. PMID: 37816000; PMCID: PMC10564178
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles. The primary initial therapy for MG is high-dose prednisone use. However, more than a third of patients do not respond to this treatment. Currently, there are no biomarkers to predict clinical responsiveness to corticosteroid treatment.
In this study, researchers defined a treatment-responsive biomarker for MG patients undergoing corticosteroid therapy. The team used serum from MG patients collected for a clinical trial of thymectomy (removal of the thymus gland) and prednisone to create metabolomic and lipidomic profiles. Next, researchers correlated these profiles with treatment response.
Results show that metabolomic and lipidomic profiles could be used to predict treatment response. Authors note that variation in prednisone metabolism may determine how well patients respond to treatment.
Regnault A, Morel T, de la Loge C, Mazerolle F, Kaminski HJ, Habib AA. Measuring Overall Severity of Myasthenia Gravis (MG): Evidence for the Added Value of the MG Symptoms PRO. Neurol Ther. 2023 Oct;12(5):1573-1590. doi: 10.1007/s40120-023-00464-x. Epub 2023 May 11.
Schlatter MI, Yandamuri SS, O'Connor KC, Nowak RJ, Pham MC, Obaid AH, Redman C, Provost M, McSweeney PA, Pearlman ML, Tees MT, Bowen JD, Nash RA, Georges GE. Remission of severe myasthenia gravis after autologous stem cell transplantation. Ann Clin Transl Neurol. 2023 Sep 19. doi: 10.1002/acn3.51898. Epub ahead of print. PMID: 37726935
Myasthenia gravis (MG) is a rare neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors (AChRs) on muscles. High-dose chemotherapy (HDIT) and autologous hematopoietic cell transplantation (HCT), also known as bone marrow transplant, are potential treatments for MG.
In this study, researchers investigated the safety and efficacy of HDIT and HCT in a patient with severe, treatment-resistant MG. Results show that HDIT and HCT induced remission of MG. The team also assessed the effect of treatment on the underlying immunopathology. Intriguingly, the AChR autoantibodies—the known pathogenic mediators of MG—did not appreciably lower after the treatment.
Authors state that these findings suggest a cell-based disease mechanism, which responds to high-dose therapy, may play a role in the pathology in addition to AChR autoantibodies. Further studies are needed to establish whether HDIT and HCT can be an effective therapy for severe MG.
Lesport Q, Joerger G, Kaminski HJ, Girma H, McNett S, Abu-Rub M, Garbey M. Eye Segmentation Method for Telehealth: Application to the Myasthenia Gravis Physical Examination. Sensors (Basel). 2023 Sep 7;23(18):7744. doi: 10.3390/s23187744. PMID: 37765800; PMCID: PMC10536520
Myasthenia gravis (MG) is a neuromuscular disorder which produces muscle weakness that can worsen over the course of a minute during an examination. Use of telemedicine has recently increased for monitoring MG, although these evaluations rely entirely on subjective evaluations of an examiner.
In this study, researchers developed a new telehealth platform to assist with telemedicine evaluations of ocular manifestations of patients with MG. The team created a hybrid algorithm that combines deep learning with computer vision, giving quantitative metrics of ptosis (eyelid droop) and ocular muscle fatigue leading to symptoms like double vision.
The method, which works on both a fixed image and frame by frame of the video in real-time, is able to operate in standard telehealth conditions. Authors note that this approach is general and can be applied to many disorders of ocular motility and ptosis.
Oh S, Mao X, Manfredo-Vieira S, Lee J, Patel D, Choi EJ, Alvarado A, Cottman-Thomas E, Maseda D, Tsao PY, Ellebrecht CT, Khella SL, Richman DP, O'Connor KC, Herzberg U, Binder GK, Milone MC, Basu S, Payne AS. Precision targeting of autoantigen-specific B cells in muscle-specific tyrosine kinase myasthenia gravis with chimeric autoantibody receptor T cells. Nat Biotechnol. 2023 Sep;41(9):1229-1238. doi: 10.1038/s41587-022-01637-z. Epub 2023 Jan 19.
Pham MC, Masi G, Patzina R, Obaid AH, Oxendine SR, Oh S, Payne AS, Nowak RJ, O'Connor KC. Individual myasthenia gravis autoantibody clones can efficiently mediate multiple mechanisms of pathology. Acta Neuropathol. 2023 Aug;146(2):319-336. doi: 10.1007/s00401-023-02603-y. Epub 2023 Jun 21. PMID: 37344701
In patients with myasthenia gravis (MG), an autoimmune response blocks or damages acetylcholine receptors in muscles. Autoantibody clones drive three different pathogenic (disease-causing) mechanisms of MG, including complement activation, receptor blockade, and antigenic modulation. However, it is unclear whether these mechanisms are driven by single or multiple antibody clones.
In this study, researchers investigated the ability of individual autoantibody clones to drive multiple pathogenic mechanisms of MG. First, the team produced monoclonal autoantibodies (mAbs) from patients with MG. Next, researchers assessed the binding properties and pathogenic capacities of the mAbs.
Results show that these mAbs can drive pathology through blocking the acetylcholine binding site, internalizing the AChR through crosslinking (modulation), and activating complement. While some mAbs can drive one or two of these mechanisms, several mAbs were able to drive all three simultaneously. Authors note that these new insights on the immunopathology of MG could help inform therapeutic approaches.
Kusner LL, Misra RS, Lucas R. Editorial: Global excellence in inflammatory diseases: North America 2021. Front Immunol. 2023 Jul 6;14:1245827. doi: 10.3389/fimmu.2023.1245827. eCollection 2023.
Yandamuri SS, Filipek B, Obaid AH, Lele N, Thurman JM, Makhani N, Nowak RJ, Guo Y, Lucchinetti CF, Flanagan EP, Longbrake EE, O'Connor KC. MOGAD patient autoantibodies induce complement, phagocytosis, and cellular cytotoxicity. JCI Insight. 2023 Jun 8;8(11):e165373. doi: 10.1172/jci.insight.165373.
Masi G, Pham MC, Karatz T, Oh S, Payne AS, Nowak RJ, Howard JF Jr, Guptill JT, Juel VC, O'Connor KC. Clinicoserological insights into patients with immune checkpoint inhibitor-induced myasthenia gravis. Ann Clin Transl Neurol. 2023 May;10(5):825-831. doi: 10.1002/acn3.51761. Epub 2023 Mar 16.
Guptill JT, Benatar M, Granit V, Habib AA, Howard JF, Barnett-Tapia C, Nowak RJ, Lee I, Ruzhansky K, Dimachkie MM, Cutter GR, Kaminski HJ. Addressing Outcome Measure Variability in Myasthenia Gravis Clinical Trials. Neurology. 2023 Apr 19;10.1212/WNL.0000000000207278. doi: 10.1212/WNL.0000000000207278. Online ahead of print.
Damato V, Spagni G, Monte G, Scandiffio L, Cavalcante P, Zampetti N, Fossati M, Falso S, Mantegazza R, Battaglia A, Fattorossi A, Evoli A. Immunological response after SARS-CoV-2 infection and mRNA vaccines in patients with myasthenia gravis treated with Rituximab. Neuromuscul Disord. 2023 Mar;33(3):288-294. doi: 10.1016/j.nmd.2023.02.005. Epub 2023 Feb 11.
Garbey M, Joerger G, Lesport Q, Girma H, McNett S, Abu-Rub M, Kaminski H. A Digital Telehealth System to Compute Myasthenia Gravis Core Examination Metrics: Exploratory Cohort Study. JMIR Neurotech. 2023;2:e43387. doi: 10.2196/43387. Epub 2023 Apr 19. PMID: 37435094; PMCID: PMC10334459
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles. Recently, telemedicine practices have grown for neurological diseases, including MG. Telemedicine evaluation of patients with MG has been recommended via the Myasthenia Gravis Core Examination (MG-CE).
In this study, researchers developed a new telehealth system to automate data acquisition and analytics during the MG-CE. Using Zoom videos of patients with MG undergoing the MG-CE, the team created an algorithm toolbox—including computer vision and signal processing methods—to analyze eye motions, body motions, and vocalizations.
Results show that this new system can objectively quantitate metrics from the MG-CE, allowing the medical examiner to concentrate on the patient instead of managing logistics. Authors note that the system could also be applied to many other neurological disorders, potentially improving clinical care.
Benatar M, Cutter G, Kaminski HJ. The best and worst of times in therapy development for myasthenia gravis. Muscle Nerve. 2022 Nov 2. doi: 10.1002/mus.27742. Epub ahead of print. PMID: 36321730.
Fichtner ML, Hoehn KB, Ford EE, Mane-Damas M, Oh S, Waters P, Payne AS, Smith ML, Watson CT, Losen M, Martinez-Martinez P, Nowak RJ, Kleinstein SH, O'Connor KC. Reemergence of pathogenic, autoantibody-producing B cell clones in myasthenia gravis following B cell depletion therapy. Acta Neuropathol Commun. 2022 Oct 28;10(1):154. doi: 10.1186/s40478-022-01454-0. PMID: 36307868; PMCID: PMC9617453.
Damato V, Spagni G, Monte G, Woodhall M, Jacobson L, Falso S, Smith T, Iorio R, Waters P, Irani SR, Vincent A, Evoli A. Clinical value of cell-based assays in the characterisation of seronegative myasthenia gravis. J Neurol Neurosurg Psychiatry. 2022 Sep;93(9):995-1000. doi: 10.1136/jnnp-2022-329284. Epub 2022 Jul 14.
Masi G, O'Connor KC. Novel pathophysiological insights in autoimmune myasthenia gravis. Curr Opin Neurol. 2022 Aug 5. doi: 10.1097/WCO.0000000000001088. Epub ahead of print. PMID: 35942663.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles. Affected receptors cannot properly receive nerve signals, impacting voluntary muscle contractions. Generalized muscle weakness and fatigue with prolonged activity are characteristic symptoms, which improve with rest. In this review article, authors summarize recent insights into the development of MG relating to the immune system, including the mechanisms of various MG disease subtypes. They also describe the wide range of treatment options now available to patients with MG, which have uncovered significant differences in clinical responses between subtypes. These differences could help clinicians choose specific therapeutic strategies. Authors conclude that improved understanding of autoantibodies is revealing the mechanisms that guide the development of MG. In the future, authors note that studies on the differences in immunology among MG patients will be key to developing effective, individualized therapies.
Masi G, Li Y, Karatz T, Pham MC, Oxendine SR, Nowak RJ, Guptill JT, O'Connor KC. The clinical need for clustered AChR cell-based assay testing of seronegative MG. J Neuroimmunol. 2022 Jun 15;367:577850. doi: 10.1016/j.jneuroim.2022.577850. Epub 2022 Mar 25.
Guidon AC, Guptill JT, Aban I, Cutter G, Soliven B, Benatar M, Kaminski HJ, Nowak RJ, on behalf of MGNet. Adapting Disease Specific Outcome Measures Pilot Trial for Telehealth in Myasthenia Gravis (ADAPT-teleMG): An Innovation in Rare Disesae Study Design During the COVID-19 Pandemic. Muscle Nerve. 2022 May. [Presented as poster at the 14th MGFA International Conference on Myasthenia and Related Disorders in Miami, Florida in May 2022, Presented at the EveryLife Foundation for Rare Diseases 2020 Scientific Workshop.]
Guptill JT, Nowak RJ, Guidon AC, Howard JF, Soliven B, Hammett A, Munro Sheldon B, Li Y, Meece T, Aban I, Cutter G, Kaminski HJ, and the EXPLORE-MG2 Study Team. A prospective natural history study and biorepository for patients with myasthenia gravis (EXPLORE-MG2). Muscle Nerve. 2022 May; 65:S1;S7-S8. [Presented as poster at the 14th MGFA International Conference on Myasthenia and Related Disorders in Miami, Florida in May 2022.]
Obaid AH, Zografou C, Vadysirisack DD, Munro-Sheldon B, Fichtner ML, Roy B, Philbrick WM, Bennett JL, Nowak RJ, O'Connor KC. Heterogeneity of Acetylcholine Receptor Autoantibody-Mediated Complement Activity in Patients With Myasthenia Gravis. Neurol Neuroimmunol Neuroinflamm.. 2022 Apr 26;9(4):e1169. doi: 10.1212/NXI.0000000000001169. PMID: 35473886.
Myasthenia gravis (MG) is a neuromuscular disorder caused by an autoimmune response which blocks or damages acetylcholine receptors in muscles. Clinical assays—laboratory tests used to diagnose and monitor patients—only measure autoantibody binding. Therefore, these tests often provide limited insight on disease burden and therapeutic response. To address these limitations, Dr. Kevin C. O’Connor and colleagues at Yale University developed a new assay for evaluating acetylcholine receptor autoantibody–mediated complement activity. Results suggested that a subset of patients lacks association between membrane attack complex formation and autoantibody binding or disease burden. Authors note that this assay provides a better understanding of autoantibody mechanisms and may improve predictions for treatment response. Ultimately, these measurements could help assess disease progression and provide more individualized treatment plans.
Kaminski HJ, Denk J. Corticosteroid Treatment-Resistance in Myasthenia Gravis. Front Neurol. 2022 Apr 25;13:886625. doi: 10.3389/fneur.2022.886625. eCollection 2022.
Guptill JT, Nowak RJ, Guidon AC, Howard JF, Soliven B, Hammett A, Munro Sheldon B, Li Y, Meece T, Aban I, Cutter G, Kaminski HJ, and the EXPLORE-MG2 Study Team. A prospective natural history study and biorepository for patients with myasthenia gravis (EXPLORE-MG2). Neurology. 2022 April P.6005. [Presented as poster at the 2022 American Academy of Neurology (AAN) Annual Meeting in Seattle, WA April 2022.]
Fichtner ML, Hoarty MD, Vadysirisack DD, Munro-Sheldon B, Nowak RJ, O'Connor KC. Myasthenia gravis complement activity is independent of autoantibody titer and disease severity. PLoS One. 2022 Mar 15;17(3):e0264489. doi: 10.1371/journal.pone.0264489. eCollection 2022.
Chia R, Saez-Atienzar S, Murphy N, Chiò A, Blauwendraat C; International Myasthenia Gravis Genomics Consortium, Roda RH, Tienari PJ, Kaminski HJ, Ricciardi R, Guida M, De Rosa A, Petrucci L, Evoli A, Provenzano C, Drachman DB, Traynor BJ. Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study. Proc Natl Acad Sci U S A. 2022 Feb 1;119(5):e2108672119. doi: 10.1073/pnas.2108672119.
Verschuuren JJ, Palace J, Murai H, Tannemaat MR, Kaminski HJ, Bril V. Advances and ongoing research in the treatment of autoimmune neuromuscular junction disorders. Erratum in: Lancet Neurol. 2022 Feb;21(2):189-202. doi: 10.1016/S1474-4422(21)00463-4. Erratum in: Lancet Neurol. 2022 Mar;21(3):e3. PMID: 35065041.
Cleanthous S, Mork AC, Regnault A, Cano S, Kaminski HJ, Morel T. Development of the Myasthenia Gravis (MG) Symptoms PRO: a case study of a patient-centred outcome measure in rare disease. Orphanet J Rare Dis. 2021 Oct 30;16(1):457. doi: 10.1186/s13023-021-02064-0.
Mandel-Brehm C, Fichtner ML, Jiang R, Winton VJ, Vazquez SE, Pham MC, Hoehn KB, Kelleher NL, Nowak RJ, Kleinstein SH, Wilson MR, DeRisi JL, O'Connor KC. Elevated N-Linked Glycosylation of IgG V Regions in Myasthenia Gravis Disease Subtypes. J Immunol. 2021 Oct 15;207(8):2005-2014. doi: 10.4049/jimmunol.2100225. Epub 2021 Sep 20.
Guidon AC, Muppidi S, Nowak RJ, Guptill JT, Hehir MK, Ruzhansky K, Burton LB, Post D, Cutter G, Conwit R, Mejia NI, Kaminski HJ, Howard JF Jr. Telemedicine visits in myasthenia gravis: Expert guidance and the Myasthenia Gravis Core Exam (MG-CE). Muscle Nerve. 2021 Sep;64(3):270-276. doi: 10.1002/mus.27260. Epub 2021 Jul 7.
Fichtner ML, Vieni C, Redler RL, Kolich L, Jiang R, Takata K, Stathopoulos P, Suarez PA, Nowak RJ, Burden SJ, Ekiert DC, O'Connor KC. Affinity maturation is required for pathogenic monovalent IgG4 autoantibody development in myasthenia gravis. J Exp Med. 2020 Dec 7;217(12):e20200513. doi: 10.1084/jem.20200513.
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