Myasthenia Gravis
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  • ||||||||||  Rituxan (rituximab) / Biogen, Zenyaku Kogyo, Roche
    Journal:  What Is in the Neuromuscular Junction Literature? (Pubmed Central) -  Feb 26, 2021   
    Updated advisory committee recommendations for the use of thymectomy in generalized MG are also provided. Other MG topics include lipoprotein receptor-4 and agrin antibody associations, factors influencing conversion of ocular to generalized MG, the use of rituximab for more recent onset disease, immunoglobulins for maintenance therapy, and fatigue and depression.
  • ||||||||||  Rituxan (rituximab) / Biogen, Zenyaku Kogyo, Roche
    Clinical, Journal:  Response to Finsterer and colleagues to "Prospective studies on the efficacy of rituximab for myasthenia gravis are warranted". (Pubmed Central) -  Feb 25, 2021   
    We cannot draw any conclusion about the respective rate of success of rituximab in MG with anti-AChR antibodies (anti-AChR MG) versus MG with anti-Musk antibodies (anti-Musk MG) as our study involved only 5 anti-Musk MG with one of them committing suicide 1 month after rituximab (RTX) onset and another one requesting a change in the treatment 3 months after the first infusion. It would have been unreasonable to conclude about a better efficacy of RTX in anti-AChR MG vs anti-Musk MG based on our data and indeed we did not do it.
  • ||||||||||  Review, Journal:  Neurogenic Dysphagia: A Systematic Review and Proposal of a Classification System. (Pubmed Central) -  Feb 24, 2021   
    Neurogenic dysphagia is not a mere symptom, but a multi-etiological syndrome with different phenotypic patterns depending on the underlying disease. Dysphagia phenotypes can facilitate differential diagnosis in patients with dysphagia of unclear etiology.
  • ||||||||||  Soliris (eculizumab) / Alexion Pharma
    Journal:  Eculizumab for the treatment of myasthenia gravis. (Pubmed Central) -  Feb 23, 2021   
    At present we are missing a controlled study on its use as a first-line treatment. We think that immunosuppression in MG will change significantly in the next years by adopting more focused 'Precision Medicine' approaches, and Eculizumab seems to satisfy such a promise.
  • ||||||||||  pyridostigmine Bromide / Generic mfg.
    Clinical, Journal:  Myasthenia Gravis in Poland: National Healthcare Database Epidemiological Study. (Pubmed Central) -  Feb 23, 2021   
    We illustrate the variety in clinical presentation and course of children with mutations in SLC18A3, leading to presynaptic congenital myasthenic syndrome through VAChT deficiency. Our findings provide information on epidemiology of MG in Poland and can serve as a tool to evaluate healthcare resources needed for MG patients.
  • ||||||||||  Journal, PD(L)-1 Biomarker, IO biomarker:  Evidence for interleukin 17 involvement in severe immune-related neuroendocrine toxicity. (Pubmed Central) -  Feb 20, 2021   
    The single-institution jitter cut-off value obtained by E-Ref gives results that are not significantly different from the reported RV. If confirmed in larger series, these data suggest IL17 as a candidate diagnostic and therapeutic target in the management of high-grade neuroendocrine immune-related adverse events.
  • ||||||||||  Soliris (eculizumab) / Alexion Pharma
    Journal:  A Sum Score to Define Therapy-Refractory Myasthenia Gravis: A German Consensus. (Pubmed Central) -  Feb 20, 2021   
    We suggest a sum score to define treatment refractory state in generalised myasthenia gravis. Beyond clarifying the indication of eculizumab, this easy-to-handle score facilitates clinical decision making and offers new inclusion criteria for clinical studies that explore new therapeutic perspectives in myasthenia gravis treatment.
  • ||||||||||  Journal:  Collagen XIII and other ECM components in the assembly and disease of the neuromuscular junction. (Pubmed Central) -  Feb 17, 2021   
    Its deficiency in humans causes CMS, and autoantibodies against it have been recognized in autoimmune myasthenia gravis (MG). Mouse models have exposed numerous details that appear to recapitulate human NMJ phenotypes relatively faithfully and thereby can be readily used to generate information necessary for understanding and ultimately treating human diseases.
  • ||||||||||  batoclimab (IMVT-1401) / Roivant
    Trial completion:  A Study of RVT-1401 in Myasthenia Gravis (MG) Patients (clinicaltrials.gov) -  Feb 17, 2021   
    P2a,  N=17, Completed, 
    The potential explanatory power of the model is explored through testable, novel predictions concerning TLR- and NOD-related AD animal models and therapies. Recruiting --> Completed
  • ||||||||||  Review, Journal:  Thymic Epithelial Neoplasms: Radiologic-Pathologic Correlation. (Pubmed Central) -  Feb 16, 2021   
    In each of these scenarios, understanding the radiologic-pathologic relationship of these tumors allows clinical imagers to contribute meaningfully to management decisions and overall patient care. Integrating important imaging features, such as local invasion, and pathologic features, such as necrosis and immunohistochemistry, ensures a meaningful contribution by clinical imagers to the care team.
  • ||||||||||  Firdapse (amifampridine) / BioMarin, Catalyst Pharma, Dydo Pharma
    Trial completion date, Trial primary completion date:  Long Term Safety Study of Amifampridine Phosphate in MuSK-MG (Muscle Specific Tyrosine Kinase Myasthenia Gravis) (clinicaltrials.gov) -  Feb 16, 2021   
    P3,  N=70, Active, not recruiting, 
    Integrating important imaging features, such as local invasion, and pathologic features, such as necrosis and immunohistochemistry, ensures a meaningful contribution by clinical imagers to the care team. Trial completion date: Sep 2021 --> Jun 2022 | Trial primary completion date: Jun 2021 --> Dec 2021
  • ||||||||||  methotrexate / Generic mfg.
    Review, Journal:  Overview of Dual-Acting Drug Methotrexate in Different Neurological Diseases, Autoimmune Pathologies and Cancers. (Pubmed Central) -  Feb 12, 2021   
    In this paper, we take an overview of the present state of knowledge with regards to complex mechanisms of methotrexate action and its applications as immunosuppressive drug or chemotherapeutic agent in oncological combination therapy. In addition, the issue of the potential benefits of methotrexate in the development of neurological disorders in Alzheimer's disease or myasthenia gravis will be discussed.
  • ||||||||||  prednisone / Generic mfg., azathioprine / Generic mfg.
    Journal:  Punctate inner choroidopathy with atypical presentation. (Pubmed Central) -  Feb 11, 2021   
    Spectral-domain optical coherence tomography showed areas of intermittent retinal pigment epithelium elevations and disruption of the ellipsoid zone. She was diagnosed with punctate inner choroidopathy and then treated with an increased dose of daily prednisone, which resulted in progressive improvement of her visual acuity and anatomical status.
  • ||||||||||  Retrospective data, Review, Journal:  The associations of HLA-DRB1 gene polymorphisms with late-onset myasthenia gravis: a meta-analysis. (Pubmed Central) -  Feb 9, 2021   
    These results are calling for further investigations on the genetic, cultural, and environmental variations of the Chinese MG populations between north and south. These results confirmed the association of DRB1 alleles (0301, 04, 0403, 07, 1301, and 14) and LOMG, which might provide potential promising biomarkers for prediction of LOMG risk.
  • ||||||||||  Clinical, Journal:  InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution. (Pubmed Central) -  Feb 7, 2021   
    We applied InMeRF to 155 pathogenic and 125 common nsSNVs in seven major genes causing congenital myasthenic syndromes, as well as in VANGL1 causing spina bifida, and found that the sensitivity and specificity of InMeRF were 0.942 and 0.848, respectively. We made the InMeRF web service, and also made genome-wide InMeRF scores available online (https://www.med.nagoya-u.ac.jp/neurogenetics/InMeRF/).
  • ||||||||||  NN1213 / Novo Nordisk
    Trial primary completion date:  QUESST: Innovative Measures of Speech and Swallowing Dysfunction in Neurological Disorders (clinicaltrials.gov) -  Feb 5, 2021   
    P=N/A,  N=200, Suspended, 
    We made the InMeRF web service, and also made genome-wide InMeRF scores available online (https://www.med.nagoya-u.ac.jp/neurogenetics/InMeRF/). Trial primary completion date: Dec 2020 --> Dec 2021
  • ||||||||||  Review, Journal:  Transmembrane Collagens in Neuromuscular Development and Disorders. (Pubmed Central) -  Feb 5, 2021   
    Furthermore, in C. elegans, a collagen-like transmembrane protein, UNC-122, is implicated in the structural and functional integrity of the NMJ. This review article summarizes recent advances in understanding the roles of transmembrane collagens and underlying molecular mechanisms in multiple aspects of neuromuscular development and disorders.