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2. Humoral immune response after SARS-CoV-2 vaccination in patients with immune-mediated inflammatory diseases treated with immunosuppressive therapy - a Target to B! study

Author

Volkers, A., Wieske, L., van Dam, K., Steenhuis, M., Stalman, E., Kummer, L., van Kempen, Z., Killestein, J., Tas, S., Boekel, L., Wolbink, G., Takkenberg, B., Spuls, P., Bosma, A., Rutgers, B., Verschuuren, J., van Ouwerkerk, L., van der Woude, D., van Paassen, P., Busch, M., Brusse, E., Hijnen, D., ten Brinke, A., Verstegen, N., D'Haens, G., van Ham, M., Kuijpers, T., Rispens, T., Lowenberg, M., Eftimov, F., Neurology, and Dermatology

Subjects
SDG 3 - Good Health and Well-being
Published
2022

3. Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT) : a multicentre, randomised, placebo-controlled, phase 3 trial

Author

Howard, J.F., Bril, V., Vu, T., Karam, C., Perk, S., Margania, T., Murai, H., Bilinska, M., Shakarishvili, R., Smilowski, M., Guglietta, A., Ulrichts, P., Vangeneugden, T., Utsugisawa, K., Verschuuren, J., Mantegazza, R., and ADAPT Investigator Study Grp

Abstract

Background There is an unmet need for treatment options for generalised myasthenia gravis that are effective, targeted, well tolerated, and can be used in a broad population of patients. We aimed to assess the safety and efficacy of efgartigimod (ARGX-113), a human IgG1 antibody Fc fragment engineered to reduce pathogenic IgG autoantibody levels, in patients with generalised myasthenia gravis.Methods ADAPT was a randomised, double-blind, placebo-controlled, phase 3 trial done at 56 neuromuscular academic and community centres in 15 countries in North America, Europe, and Japan. Patients aged at least 18 years with generalised myasthenia gravis were eligible to participate in the study, regardless of anti-acetylcholine receptor antibody status, if they had a Myasthenia Gravis Activities of Daily Living (MG-ADL) score of at least 5 (>50% non-ocular), and were on a stable dose of at least one treatment for generalised myasthenia gravis. Patients were randomly assigned by interactive response technology (1:1) to efgartigimod (10 mg/kg) or matching placebo, administered as four infusions per cycle (one infusion per week), repeated as needed depending on clinical response no sooner than 8 weeks after initiation of the previous cycle. Patients, investigators, and clinical site staff were all masked to treatment allocation. The primary endpoint was proportion of acetylcholine receptor antibody-positive patients who were MG-ADL responders (>= 2-point MG-ADL improvement sustained for >= 4 weeks) in the first treatment cycle. The primary analysis was done in the modified intention-to-treat population of all acetylcholine receptor antibody-positive patients who had a valid baseline MG-ADL assessment and at least one post-baseline MG-ADL assessment. The safety analysis included all randomly assigned patients who received at least one dose or part dose of efgartigimod or placebo. This trial is registered at ClinicalTrials.gov (NCT03669588); an open-label extension is ongoing (ADAPT+, NCT03770403).Findings Between Sept 5, 2018, and Nov 26, 2019, 167 patients (84 in the efgartigimod group and 83 in the placebo group) were enrolled, randomly assigned, and treated. 129 (77%) were acetylcholine receptor antibody-positive. Of these patients, more of those in the efgartigimod group were MG-ADL responders (44 [68%] of 65) in cycle 1 than in the placebo group (19 [30%] of 64), with an odds ratio of 4.95 (95% CI 2.21-11.53, p

Published
2021

8. International Guillain-Barré Syndrome Outcome Study

Author

Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, Consortium, I, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Péréon, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bürmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, Ga, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Immunology, Neurology, Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Pã©rã©on, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bã¼rmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, G, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Rehabilitation medicine, Internal medicine, and ANS - Neuroinfection & -inflammation

Subjects
Male, Pediatrics, PROGNOSIS, diagnosis, International Cooperation, Guillain-Barré syndrome, biomarkers, outcome, prognosis, treatment, Guillain-Barre syndrome, Guillain-Barré syndrome, Neuroscience (all), Neurology (clinical), Cohort Studies, 0302 clinical medicine, Epidemiology, Outcome Assessment, Health Care, INFECTION, CRITERIA, 030212 general & internal medicine, General Neuroscience, Biobank, Observational Studies as Topic, diagnosi, Disease Progression, biomarker, Female, Settore MED/26 - Neurologia, medicine.symptom, prognosi, Cohort study, medicine.medical_specialty, Weakness, Guillain-Barre Syndrome, CLASSIFICATION, VALIDATION, 03 medical and health sciences, medicine, Humans, INTRAVENOUS IMMUNOGLOBULIN, Protocol (science), business.industry, Polyradiculoneuropathy, medicine.disease, ANTIBODIES, Observational study, business, COLLECTION, 030217 neurology & neurosurgery
Abstract

Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here. Patients fulfilling the diagnostic criteria for GBS, regardless of age, disease severity, variant forms, or treatment, can participate if included within 2 weeks after onset of weakness. Information about demography, preceding infections, clinical features, diagnostic findings, treatment, course, and outcome is collected. In addition, cerebrospinal fluid and serial blood samples for serum and DNA is collected at standard time points. The original aim was to include at least 1,000 patients with a follow-up of 1-3 years. Data are collected via a web-based data entry system and stored anonymously. IGOS started in May 2012 and by January 2017 included more than 1,400 participants from 143 active centers in 19 countries across 5 continents. The IGOS data/biobank is available for research projects conducted by expertise groups focusing on specific topics including epidemiology, diagnostic criteria, clinimetrics, electrophysiology, antecedent events, antibodies, genetics, prognostic modeling, treatment effects, and long-term outcome of GBS. The IGOS will help to standardize the international collection of data and biosamples for future research of GBS.

Published
2017
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13. Current treatment practice of Guillain-Barré syndrome

Author

Verboon C., Doets A. Y., Galassi G., Davidson A., Waheed W., Pereon Y., Shahrizaila N., Kusunoki S., Lehmann H. C., Harbo T., Monges S., Van Den Bergh P., Willison H. J., Cornblath D. R., Jacobs B. C., Hughes R. A. C., Gorson K. C., Hartung H. P., Van Doorn P. A., Van den Berg B., Roodbol J., Van Woerkom M., Reisin R. C., Reddel S. W., Islam Z., Islam B., Mohammad Q. D., Feasby T. E., Dardiotis E., Nobile-Orazio E., Bateman K., Illa I., Querol L., Hsieh S. T., Chavada G., Addington J. M., Ajroud-Driss S., Andersen H., Antonini G., Ariatti A., Attarian S., Badrising U. A., Barroso F. A., Benedetti L., Beronio A., Bianco M., Binda D., Briani C., Bunschoten C., Burmann J., Bella I. R., Bertorini T. E., Bhavaraju-Sanka R., Brannagan T. H., Busby M., Butterworth S., Casasnovas C., Cavaletti G., Chao C. C., Chen S., Chetty S., Claeys K. G., Conti M. E., Cosgrove J. S., Dalakas MC., Demichelis C., Derejko M. A., Dillmann U., Dimachkie M. M., Doppler K., Dornonville de la Cour C., Echaniz-Laguna A., Eftimov F., Faber C. G., Fazio R., Fokke C., Fujioka T., Fulgenzi E. A., Garcia-Sobrino T., Garssen M. P. J., Georgios H. M., Gijsbers C. J., Gilchrist J. M., Gilhuis J., Giorli E., Goldstein J. M., Goyal N. A., Granit V., Grapperon A., Gutierrez G., Hadden R. D. M., Holbech J. V., Holt J. K. L., Pedret C. H., Htut M., Jellema K., Pascual I. J., Jimeno-Montero M. C., Kaida K., Karafiath S., Katzberg H. D., Kiers L., Kieseier B. C., Kimpinski K., Kleyweg R. P., Kokubun N., Kolb N. A., Kuitwaard K., Kuwabara S., Kwan J. Y., Ladha S. S., Lassen L. L., Lawson V., Ledingham D., Lucy S. T., Lunn M. P. T., Magot A., Manji H., Marchesoni C., Marfia G. A., Infante C. M., Hernandez E. M., Mataluni G., Mattiazi M., McDermott C. J., Meekins G. D., Miller J. A. L., Moris de la Tassa G., Physiotherapist J. M., Nascimbene C., Nowak R. J., Balaguer P. O., Osei-Bonsu M., Pan E. B. L., Pardal A. M., Pardo J., Pasnoor M., Pulley M., Rajabally Y. A., Rinaldi S., Ritter C., Roberts R. C., Rojas-Marcos I., Rudnicki S. A., Ruiz M., Sachs G. M., Samijn J. P. A., Santoro L., Savransky A., Schenone A., Schwindling L., Tous M. J. S., Sekiguchi Y., Sheikh K. A., Silvestri N. J., Sindrup S. H., Sommer C. L., Stein B., Stino A. M., Spyropoulos A., Srinivasan J., Styliani R., Suzuki H., Tankisi H., Tigner D., Twydell P., Van Damme P., Van der Kooi A. J., Van Dijk G. W., Van der Ree T., Van Koningsveld R., Valzania F., Varrato J. D., Vermeij F. H., Verschuuren J., Visser L. H., Vytopil M. V., Wilken M., Wilkerson C., Wirtz P. W., Yamagishi Y., Zhou L., Zivkovic S. A., Neurology, AII - Infectious diseases, AII - Inflammatory diseases, ANS - Neuroinfection & -inflammation, Immunology, Erasmus MC other, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Verboon, C, Doets, A, Galassi, G, Davidson, A, Waheed, W, Pereon, Y, Shahrizaila, N, Kusunoki, S, Lehmann, H, Harbo, T, Monges, S, Van Den Bergh, P, Willison, H, Cornblath, D, Jacobs, B, Hughes, R, Gorson, K, Hartung, H, Van Doorn, P, Van den Berg, B, Roodbol, J, Van Woerkom, M, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, Feasby, T, Dardiotis, E, Nobile-Orazio, E, Bateman, K, Illa, I, Querol, L, Hsieh, S, Chavada, G, Addington, J, Ajroud-Driss, S, Andersen, H, Antonini, G, Ariatti, A, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bunschoten, C, Burmann, J, Bella, I, Bertorini, T, Bhavaraju-Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Conti, M, Cosgrove, J, Dalakas, M, Demichelis, C, Derejko, M, Dillmann, U, Dimachkie, M, Doppler, K, Dornonville de la Cour, C, Echaniz-Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Garcia-Sobrino, T, Garssen, M, Georgios, H, Gijsbers, C, Gilchrist, J, Gilhuis, J, Giorli, E, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutierrez, G, Hadden, R, Holbech, J, Holt, J, Pedret, C, Htut, M, Jellema, K, Pascual, I, Jimeno-Montero, M, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Lassen, L, Lawson, V, Ledingham, D, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, G, Infante, C, Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Moris de la Tassa, G, Physiotherapist, J, Nascimbene, C, Nowak, R, Balaguer, P, Osei-Bonsu, M, Pan, E, Pardal, A, Pardo, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas-Marcos, I, Rudnicki, S, Ruiz, M, Sachs, G, Samijn, J, Santoro, L, Savransky, A, Schenone, A, Schwindling, L, Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Styliani, R, Suzuki, H, Tankisi, H, Tigner, D, Twydell, P, Van Damme, P, Van der Kooi, A, Van Dijk, G, Van der Ree, T, Van Koningsveld, R, Valzania, F, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Zhou, L, and Zivkovic, S

Subjects
Adult, medicine.medical_specialty, Adolescent, Patient characteristics, PLASMA-EXCHANGE, 030204 cardiovascular system & hematology, Guillain-Barre Syndrome, Settore MED/26, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Severity of illness, Medicine, Effective treatment, INTRAVENOUS IMMUNOGLOBULIN, Humans, Prospective Studies, Child, Child, Preschool, Treatment Outcome, Prospective cohort study, Preschool, Guillain-Barre syndrome, business.industry, medicine.disease, RANDOMIZED-TRIAL, Prospective Studie, Hospital treatment, Treatment practice, Observational study, Neurology (clinical), business, 030217 neurology & neurosurgery, Human
Abstract

ObjectiveTo define the current treatment practice of Guillain-Barré syndrome (GBS).MethodsThe study was based on prospective observational data from the first 1,300 patients included in the International GBS Outcome Study. We described the treatment practice of GBS in general, and for (1) severe forms (unable to walk independently), (2) no recovery after initial treatment, (3) treatment-related fluctuations, (4) mild forms (able to walk independently), and (5) variant forms including Miller Fisher syndrome, taking patient characteristics and hospital type into account.ResultsWe excluded 88 (7%) patients because of missing data, protocol violation, or alternative diagnosis. Patients from Bangladesh (n = 189, 15%) were described separately because 83% were not treated. IV immunoglobulin (IVIg), plasma exchange (PE), or other immunotherapy was provided in 941 (92%) of the remaining 1,023 patients, including patients with severe GBS (724/743, 97%), mild GBS (126/168, 75%), Miller Fisher syndrome (53/70, 76%), and other variants (33/40, 83%). Of 235 (32%) patients who did not improve after their initial treatment, 82 (35%) received a second immune modulatory treatment. A treatment-related fluctuation was observed in 53 (5%) of 1,023 patients, of whom 36 (68%) were re-treated with IVIg or PE.ConclusionsIn current practice, patients with mild and variant forms of GBS, or with treatment-related fluctuations and treatment failures, are frequently treated, even in absence of trial data to support this choice. The variability in treatment practice can be explained in part by the lack of evidence and guidelines for effective treatment in these situations.

Published
2019
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14. Second IVIg course in Guillain-Barré syndrome with poor prognosis. The non-randomised ISID study

Author

Verboon, C., Van Den Berg, B., Cornblath, D. R., Venema, E., Gorson, K. C., Lunn, M. P., Lingsma, H., Van Den Bergh, P., Harbo, T., Bateman, K., Pereon, Y., Sindrup, So. H., Kusunoki, S., Miller, J., Islam, Z., Hartung, H. -P., Chavada, G., Jacobs, B. C., Hughes, R. A. C., Addington, Van Doorn P. A. J. M., MD (University of Virginia, Charlottesville, USA), on October 7, S. Consortia. Protected by copyright., Downloaded from 8 Verboon C, 2019 at Uppsala Universitet BIBSAM http://jnnp. bmj. com/ J Neurol Neurosurg Psychiatry: first published as 10. 1136/jnnp-2019-321496 on 5 October 2019., J Neurol Neurosurg Psychiatry 2019, et al., 1136/jnnp-2019-321496 Neuromuscular Ajroud-Driss, 0:1–9. doi:10., MD (Northwestern University Feinberg, Chicago, USA), Antonini, G., MD (Mental Health and Sensory Organs (NESMOS), Sapienza, University, Sant’Andrea, Hospital, Rome, Italy), Attarian, S., PhD (CHU Timone, Marseille, France), Barroso, F. A., MD (Instituto de Investigaciones Neurológicas Raúl Carrea, Fleni, Buenos, Aires, Argentina), Benedetti, L., PhD (Ospedale Sant’ Andrea La Spezia, Spezia, La, Italy), Bertorini, T. E., MD (The University of Tennessee Health Science Center (UTHSC), Memphis, USA), Brannagan, T. H., MD (Columbia University, New York City, USA), Briani, C., MD (University of Padova, Padova, Italy), Bhavaraju-Sanka, R., MD (University Hospital/University of Texas Health Science Center, San Antonio Texas, Butterworth, S., MD (Pinderfields Hospital, Wakefield, UK), Casasnovas, C., Ciberer, PhD (Bellvitge University Hospital – IDIBELL Neurometabolic Diseases Group., Barcelona, Spain), Cavaletti, G., MD (University Milano-Bicocca, Monza, Italy), Chen, S., Phd, (Rutgers, Robert Wood Johnson University Hospital, New, Brunswick, Claeys, K. G., University Hospitals Leuven, PhD (1., Leuven, Belgium, KU Leuven, 2., Leuven, Belgium), Cosgrove, J. S., MD (Leeds General Infirmary, Leeds, UK), Davidson, A., MD (University of Glasgow, Glasgow, UK), Dardiotis, E., MD (University of Thessaly, Hospital of Larissa, Larissa, Greece), Dornonville de la Cour, C., MD (National Hospital Copenhagen, Copenhagen, Denmark), Faber, C. G., PhD (Maastricht University Medical Centre, Maastricht, The, Netherlands), Feasby, T. E., MD (University of Calgary, Calgary, Canada), Fujioka, T., MD (Toho University Medical Center, Tokyo, Japan), Galassi, G., MD (University Hospital of Modena, Modena, Italy), Gilchrist, J. M., MD (Soulthern Illinois University School of Medicine, Springfield, USA), Goyal, N. A., MD (University of California, Irvine, USA), Granit, V., MD (Montefiore Medical, Center, New, York, Gutiérrez-Gutiérrez, G., MD (Hospital Universitario Infanta Sofia, San, Sebastian, Spain), Hadden, R. D. M., PhD (King’s College Hospital, London, UK), Holt, J. K. L., Phd, FRCP (The Walton Centre, Liverpool, UK), Htut, M., George’s Hospital, MD (St., Jericó Pascual, I., PhD (Complejo Hospitalario de Navarra, Pamplona, Spain), Karafiath, S., MD (University of Utah School of Medicine, Salt Lake City, Katzberg, H. D., MD (University of Toronto, Toronto, Canada), Kiers, L., MD (University of Melbourne, Royal Melbourne Hospital, Parkville, Australia), Kieseier, B. C., MD (Heinrich Heine University, Düsseldorf, Germany), Kimpinski, K., MD (University Hospital, Lhsc, London-Ontario, Canada), Kuwabara, S., PhD (Chiba University, Chiba, Japan), Kwan, J. Y., MD (University of Maryland School of Medicine, Baltimore, USA), Ladha, S. S., MD (Barrow Neurology Clinics, Phoenix, Arizona, Lawson, V., MD (Wexner Medical Center at The Ohio State University, Columbus, USA), Lehmann, H., PhD (University Hospital of Cologne, Universitätsklinikum, Köln, Cologne, Germany), Manji, H., FRCP (Ipswich Hospital, Ipswich, UK), Marfia, G. A., MD (Neurological Clinic, Policlinico Tor Vergata, Márquez Infante, C., MD (Hospital Universitario Virgen del Rocio, Seville, Spain), Mattiazzi, M. G., MD (Hospital Militar Central, Mcdermott, C. J., MD (Royal Hallamshire Hospital, Nihr, Clinical, Sheffield, UK), Monges, M. S., Garrahan, MD (Hospital de Pediatría J. P., Morís de la Tassa, G., MD (Hospital Universitario Central de Asturias, Asturias, Spain), Nascimbene, C., PhD (Luigi Sacco Hospital, Milan, Italy), Nobile Orazio, E., PhD (Milan University, Humanitas Clinicala and Research Institute Milan, Nowak, R. J., MD (Yale University School of Medicine, New, Haven, Osei-Bonsu (James Cook University Hospital, M., Middlesbrough, UK), Pardo Fernandez (Hospital Clínico de Santiago, J., Santiago de Compostela (A Coruña), Querol Gutierrez, L., PhD (Hospital de la Santa Creu, i Sant Pau, Universitat Autònoma de Barcelona, Reisin (Hospital Britanico, R., Rinaldi, S., Mbchb, Roberts, PhD (University of Oxford R. C., MD (Addenbrooke’s Hospital Cambridge, Cambridge, UK), Rojas-Marcos, I., MD (Hospital Univesitario Reina Sofia, Cordoba, Spain), Rudnicki, S. A., MD (University of Arkansas, Fayetteville, USA), Schenone, A., Department of Neurosciences, PhD (1., Rehabilitation, Ophthalmology, Genetics and Maternal and Infantile Sciences (DINOGMI), University of Genova, Genova, IRCCS Policlinico San Martino, Italy 2., Genova, Italy), Sedano Tous, M. J., MD (Hospital Universitario Marques de Valdecilla, Santander, Cantabria, Shahrizaila, N., MD (Neurology Unit, Department of Medicine, Faculty of Medicine, University of Malaya, Malaya), Sheikh, K., PhD (The University of Texas Health Science Center at Houston, Houston, USA), Silvestri, N. J., MD (Buffalo General Medical Center, Buffalo, Ny, Sommer, C. L., MD (Universitätsklinikum Würzburg, Würzburg, Germany), Varrato, J. D., DO (Lehigh Valley Health Network, Allentown, USA), Verschuuren, J., PhD (Leiden University Medical Centre, Leiden, Vytopil, M. V., Waheed, PhD (Tufts University School of Medicine Lahey Hospital W., MD (University of Vermont Medical Center, Burlington, USA), Zhou, L., PhD (Icahn School of Medicine at Mount Sinai, Badrising, USA). Other collaborators were:U. A., Bella, I. R., MD (University of Mass Medical School, Worcester, USA), Bunschoten, C., PhD candidate (Erasmus University Medical Centre, Rotterdam, Bürmann, J., Universitätsklinikum des Saarlandes, Homburg, Germany), Busby, M., Bradford, UK), Chao, C. C., PhD (National Taiwan University Hospital, Taipei, Taiwan), Conti, M. E., MD (University Hospital Clinicas, Dalakas, M. C., Thomas Jefferson University, MD (1., Philadelphia, Usa, National and Kapodistrian University of Athens, 2., Athens, Greece), Van Damme, P., PhD (University Hospital Leuven, Doets, A., van Dijk, G. W., MD (Canisius Wilhelmina Hospital, Nijmegen, Dimachkie, M. M., MD (University of Kansas Medical Center, Kansas, City, Doppler, K., Echaniz-Laguna, A., MD (Hopital de Hautepierre, Strasbourgh, France), Eftimov, F., PhD (Amsterdam University Medical Centre, Amsterdam, Fazio, R., MD (Scientific Institute San Raffaele, Fokke, C., MD (Gelre Hospital, Zutphen and Apeldoorn, Fulgenzi, E. A., MD (Hospital Cesar Milstein Buenos Aires, Garssen, M. P. J., PhD (Jeroen Bosch Hospital, Hertogenbosch, ’S, Zaltbommel and Drunen, Gijsbers, C. J., MD (Vlietland Hospital, Schiedam, Gilhuis, J., PhD (Reinier de Graaf Gasthuis, Delft, Grapperon, A., MD (CHU Timone, Hsieh, S. T., Illa, I., Islam, B., PhD (International Centre for Diarrhoeal Disease Research, Bangladesh, (icddr, Dhaka, b), Bangladesh), Jellema, K., PhD (Haaglanden Medisch Centrum, The, Hague, Kaida, K., PhD (National Defense Medical College, Saitama, Japan), Kokubun, N., MD (Dokkyo Medical University, Tochigi, Japan), Kolb, N., MD (University of Vermont, Burlington, Vt, van Koningsveld, R., PhD (Elkerliek Hospital, Helmond and Deurne, van der Kooi, A. J., Kuitwaard, K., PhD (Albert Schweitzer Hospital, Dordrecht, Landschoff Lassen, L., MD (Glostrup Hospital, Glostrup, Denmark), Leonhard, S. E., Mandarakas, M., PhD (Erasmus University Medical Centre, Martinez Hernandez, E., MD (Institut d’Investigacions Biomèdiques August Pi, i Sunyer (IDIBAPS), Hospital, Clinic, Mohammad, Q. D., PhD (National Institute of Neurosciences and Hospital, Dhaka, Bangladesh), Pulley, M., MD (University of Florida, Jacksonville, USA), Rajabally, Y. A., PhD (Queen Elizabeth Hospital, Birmingham, UK), Reddel, S. W., PhD (Concord Repatriation General Hospital, Sydney, Australia), van der Ree, T., (Westfriesgasthuis, Md, Hoorn, Roodbol, J., Sachs, G. M., MD (University of Rhode Island, Providence, USA), Samijn, J. P. A., PhD (Maasstad Hospital, Santoro, L., PhD (University Federico II, Napels, Italy), Stein, B., Joseph’s Regional Medical Center, MD (St., Paterson, USA), Vermeij, F. H., MD (Franciscus Gasthuis, Visser, L. H., PhD (Elisabeth-TweeSteden Hospital, Tilburg and Waalwijk, Willison, H. J., PhD (University of Glasgow, Wirtz, P., Phd, (HagaZiekenhuis, Zivkovich, S. A., PhD (University of Pittsburgh Medical Center, and Pittsburgh, USA).

Subjects
treatment, disability evaluation, drug administration schedule, adult, guillain-barré syndrome, poor prognosis, second ivig course, aged, female, guillain-barre syndrome, humans, immunoglobulin g, immunoglobulins, intravenous, immunologic factors, male, middle aged, prognosis, time factors, treatment outcome
Published
2020

27. Second IVIg course in Guillain-Barre syndrome patients with poor prognosis (SID-GBS trial): Protocol for a double-blind randomized, placebo-controlled clinical trial

Author

Walgaard, Christa, Jacobs, Bart C., Lingsma, Hester F., Steyerberg, Ewout W., Cornblath, David R., van Doorn, Pieter A., de Wit, M. C. Y., van den Berg, B., Doets, A. Y., Leonhard, S. E., Verboon, J. C., van Woerkom, M., Tio-Gillen, A. P., van Rijs, W., Huizinga, H., Badrising, U. A., Bienfait, H. M. E., Blom, R. J., van Boheemen, C. J. M., Breukelman, A. J., Bronner, I. M., Dieks, H. J. G., van Dijk, G. W., van Engelen, B. G. M., Faber, C. G., Feenstra, B., Fokke, C., Garssen, M. P. J., Gijsbers, C. J., Gilhuis, H. J., van der Graaff, M. M., Groen, R. J., Hoogendoorn, T. A., Hovestad, A., Jansen, P. J. H. W., Jellema, K., Keuter, E., Kleyweg, R. P., van Koningsveld, R., van der Kooi, A. J., van der Kooi, E. L., Krudde, J., Kuks, J. B. M., Kuitwaard, K., Linssen, W. H. J. P., Lion, J., Lovenich, H., Manschot, S. M., Mellema, S. J., Merkies, I. S. J., van der Meulen, M. F. G., van der Meulen, W. D. M., Molenaar, D. S. M., Oenema, D. G., van Oosten, B. W., van Oostrom, J. C. H., van Orshoven, N. P., van der Ploeg, R. J. O., van der Pol, W. L., Polman, S., van der Ree, T. C., de Rijk, M. C., Ruitenberg, A., Ruts, L., Samijn, J. P. A., Schyns-Soeterboek, A. J. G. M., Stevens, M., Vermeij, F. H., Verschuuren, J. J. G. M., Visser, L. H., Wirtz, P. W., Wohlgemuth, M., Zwetsloot, C. P., Dippel, D. W. J., Hintzen, R. Q., Anesthesiology, Neurology, Amsterdam Neuroscience - Neuroinfection & -inflammation, AII - Infectious diseases, ANS - Neuroinfection & -inflammation, Immunology, and Public Health

Subjects
Male, IVIg, Disease, Guillain-Barre syndrome, Disability Evaluation, 0302 clinical medicine, hemic and lymphatic diseases, 030212 general & internal medicine, Hospital Mortality, Netherlands, Randomized Controlled Trials as Topic, treatment, General Neuroscience, Standard treatment, Immunoglobulins, Intravenous, Middle Aged, trial, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Prognosis, Intensive Care Units, Treatment Outcome, Research Design, Female, Adult, medicine.medical_specialty, Poor prognosis, Randomization, Adolescent, Placebo, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, Double-Blind Method, Internal medicine, medicine, Humans, Muscle Strength, protocol, Adverse effect, Aged, business.industry, Patient Selection, Recovery of Function, Length of Stay, medicine.disease, Respiration, Artificial, Clinical trial, Immunoglobulin G, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

One course of intravenous immunoglobulins (IVIg) of 2 g/kg is standard treatment in Guillain-Barré syndrome (GBS) patients unable to walk independently. Despite treatment some patients recover poorly, in part related to rapid consumption of IVIg, indicating that they may benefit from a second course of IVIg. The aim of the study is to determine whether a second course of IVIg, administered 1 week after start of the first course in patients with GBS and predicted poor outcome improves functional outcome on the GBS disability scale after 4 weeks. Secondary outcome measures include adverse events (AEs), Medical Research Council sumscore and GBS disability score after 8, 12, and 26 weeks, length of hospital and ICU admission, mortality, and changes in serum IgG levels. GBS patients of 12 years and older with a poor prognosis, based on the modified Erasmus GBS outcome score (mEGOS) at 1 week after start of the first IVIg course are eligible for randomization in this double-blind, placebo-controlled (IVIg or albumin) clinical trial. This study will determine if a second course of IVIg administered in the acute phase of the disease is safe, feasible, and effective in patients with GBS and a poor prognosis. This Dutch trial is registered prospectively as NTR 2224 in the Netherlands National Trial Register (NTR) which is the Primary Registry in the WHO Registry Network for the Netherlands.

Published
2018
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43. Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

Author

Hoffman, E.P., Bonnemann, C., Boutin, M., Brais, B., Buccella, F., Burghes, A., Coffey, C., Dasgupta, N., Dawkins, H., Luca, A. de, Dowd, C., Duong, T., Eagle, M., Finkel, R., Furlong, P., Gagnon, C., Goemans, N., Guglieri, M., Hathout, Y., Johnson, N., Kakkis, E., Kaufmann, P., Kimmelman, J., Korngut, L., Kullman, J., Lochmuller, H., Marini, S., McDonald, C., Mohan, C., Morgenroth, L., Morizono, H., Nagaraju, K., Porter, J., Reilly, L., Ruegg, M., Schneider, J., Spitali, P., Straub, V., Sweeney, L., Tasca, G., Turner, C., Veldhuizen, O., Verschuuren, J., Ward, S., Willmann, R., and TREAT-NMD Alliance

Subjects
0301 basic medicine, medicine.medical_specialty, Orphan Drug Production, business.industry, MEDLINE, Neuromuscular Diseases, Congresses as Topic, Orphan drug, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Family medicine, Pediatrics, Perinatology and Child Health, District of Columbia, Medicine, Humans, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
Published
2017

46. Randomized Trial of Thymectomy in Myasthenia Gravis

Author

Wolfe, Gi, Kaminski, Hj, Aban, Ib, Minisman, G, Kuo, Hc, Marx, A, Ströbel, P, Mazia, C, Oger, J, Cea, Jg, Heckmann, Jm, Evoli, A, Nix, W, Ciafaloni, E, Antonini, G, Witoonpanich, R, King, Jo, Beydoun, Sr, Chalk, Ch, Barboi, Ac, Amato, Aa, Shaibani, Ai, Katirji, B, Lecky, Br, Buckley, C, Vincent, A, Dias Tosta, E, Yoshikawa, H, Waddington Cruz, M, Pulley, Mt, Rivner, Mh, Kostera Pruszczyk, A, Pascuzzi, Rm, Jackson, Ce, Garcia Ramos GS, Verschuuren, Jj, Massey, Jm, Kissel, Jt, Werneck, Lc, Benatar, M, Barohn, Rj, Tandan, R, Mozaffar, T, Conwit, R, Odenkirchen, J, Sonett, Jr, 3rd, Jaretzki A., Newsom Davis, J, Cutter, Gr, MGTX study group including Cutter GR, Feese, M, Saluto, V, Rosenberg, M, Alvarez, V, Rey, L, King, J, Butzkueven, H, Goldblatt, J, Carey, J, Pollard, J, Reddel, S, Handel, N, Mccaughan, B, Pallot, L, Novis, R, Boasquevisque, C, Morato Fernandez, R, Ximenes, M, Werneck, L, Scola, R, Soltoski, P, Chalk, C, Moore, F, Mulder, D, Wadup, L, Mezei, M, Evans, K, Jiwa, T, Schaffar, A, White, C, Toth, C, Gelfand, G, Wood, S, Pringle, E, Zwicker, J, Maziak, D, Shamji, F, Sundaresan, S, Seely, A, Cea, G, Verdugo, R, Aguayo, A, Jander, S, Zickler, P, Klein, M, Weis, Ca, Melms, A, Bischof, F, Aebert, H, Ziemer, G, Thümler, B, Wilhem Schwenkmezger, T, Mayer, E, Schalke, B, Pöschel, P, Hieber, G, Wiebe, K, Clemenzi, A, Ceschin, V, Rendina, E, Venuta, F, Morino, S, Bucci, E, Durelli, Luca, Tavella, A, Clerico, Marinella, Contessa, G, Borasio, P, Servidei, S, Granone, P, Mantegazza, R, Berta, E, Novellino, L, Spinelli, L, Motomura, M, Matsuo, H, Nagayasu, T, Takamori, M, Oda, M, Matsumoto, I, Furukawa, Y, Noto, D, Motozaki, Y, Iwasa, K, Yanase, D, Ramos, Gg, Cacho, B, de la Garza, L, Lipowska, M, Kwiecinski, H, Potulska Chromik, A, Orlowski, T, Silva, A, Feijo, M, Freitas, A, Heckmann, J, Frost, A, Pan, El, Tucker, L, Rossouw, J, Drummond, F, Illa, I, Diaz, J, Leon, C, Yeh, Jh, Chiu, Hc, Hsieh, Ys, Tunlayadechanont, S, Attanavanich, S, Verschuuren, J, Straathof, C, Titulaer, M, Versteegh, M, Pels, A, Krum, Y, Leite, M, Hilton Jones, D, Ratnatunga, C, Farrugia, Me, Petty, R, Overell, J, Kirk, A, Gibson, A, Mcdermott, C, Hopkinson, D, Lecky, B, Watling, D, Marshall, D, Saminaden, S, Davies, D, Dougan, C, Sathasivam, S, Page, R, Sussman, J, Ealing, J, Krysiak, P, Amato, A, Salajegheh, M, Jaklitsch, M, Roe, K, Ashizawa, T, Smith, Rg, Zwischenberg, J, Stanton, P, Barboi, A, Jaradeh, S, Tisol, W, Gasparri, M, Haasler, G, Yellick, M, Dennis, C, Barohn, R, Pasnoor, M, Dimachkie, M, Mcvey, A, Gronseth, G, Dick, A, Kramer, J, Currence, M, Herbelin, L, Belsh, J, Li, G, Langenfeld, J, Mertz, Ma, Harrison, T, Force, S, Usher, S, Beydoun, S, Lin, F, Demeester, S, Akhter, S, Malekniazi, A, Avenido, G, Crum, B, Milone, M, Cassivi, S, Fisher, J, Heatwole, C, Watson, T, Hilbert, J, Smirnow, A, Distad, B, Weiss, M, Wood, D, Haug, J, Ernstoff, R, Cao, J, Chmielewski, G, Welsh, R, Duris, R, Gutmann, L, Pawar, G, Graeber, Gm, Altemus, P, Nance, C, Jackson, C, Grogan, P, Calhoon, J, Kittrell, P, Myers, D, Kaminski, H, Hayat, G, Naunheim, K, Eller, S, Holzemer, E, Alshekhlee, A, Robke, J, Karlinchak, B, Katz, J, Miller, R, Roan, R, Forshew, D, Kissel, J, Elsheikh, B, Ross, P, Chelnick, S, Lewis, R, Acsadi, A, Baciewicz, F, Masse, S, Massey, J, Juel, V, Onaitis, M, Lowe, J, Lipscomb, B, Thai, G, Milliken, J, Martin, V, Karayan, R, Muley, S, Parry, G, Shumway, S, Oh, S, Claussen, G, Lu, L, Cerfolio, R, Young, A, Morgan, M, Pascuzzi, R, Kincaid, J, Kesler, K, Guingrich, S, Michaels, A, Phillips, L, Burns, T, Jones, D, Fischer, C, Pulley, M, Berger, A, D'Agostino, H, Smith, L, Rivner, M, Pruitt, J, Landolfo, K, Hillman, D, Shaibani, A, Sermas, A, Ruel, R, Ismail, F, Sivak, M, Goldstein, M, Camunas, J, Bratton, J, Panitch, H, Leavitt, B, Jones, M, Wolfe, G, Muppidi, S, Vernino, S, Nations, S, Meyer, D, and Gorham, N.

Subjects
Male, medicine, medicine.medical_treatment, 030204 cardiovascular system & hematology, Medical and Health Sciences, Severity of Illness Index, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Prednisone, Adolescent, Adult, Aged, Combined Modality Therapy, Female, Glucocorticoids, Hospitalization, Humans, Middle Aged, Myasthenia Gravis, Single-Blind Method, Treatment Outcome, Young Adult, Thymectomy, Medicine (all), Young adult, MGTX Study Group, General Medicine, Settore MED/26 - NEUROLOGIA, 6.1 Pharmaceuticals, medicine.drug, medicine.medical_specialty, Clinical Trials and Supportive Activities, Autoimmune Disease, 03 medical and health sciences, Rare Diseases, Clinical Research, General & Internal Medicine, Internal medicine, Severity of illness, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, Retrospective cohort study, medicine.disease, Myasthenia gravis, Surgery, Clinical research, adolescent, adult, aged, combined modality therapy, female, glucocorticoids, hospitalization, humans, male, middle aged, myasthenia gravis, prednisone, severity of Illness index, single-blind method, treatment outcome, young adult, thymectomy, business, 030217 neurology & neurosurgery
Abstract

BackgroundThymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence of its benefit. We conducted a multicenter, randomized trial comparing thymectomy plus prednisone with prednisone alone.MethodsWe compared extended transsternal thymectomy plus alternate-day prednisone with alternate-day prednisone alone. Patients 18 to 65 years of age who had generalized nonthymomatous myasthenia gravis with a disease duration of less than 5 years were included if they had Myasthenia Gravis Foundation of America clinical class II to IV disease (on a scale from I to V, with higher classes indicating more severe disease) and elevated circulating concentrations of acetylcholine-receptor antibody. The primary outcomes were the time-weighted average Quantitative Myasthenia Gravis score (on a scale from 0 to 39, with higher scores indicating more severe disease) over a 3-year period, as assessed by means of blinded rating, and the time-weighted average required dose of prednisone over a 3-year period.ResultsA total of 126 patients underwent randomization between 2006 and 2012 at 36 sites. Patients who underwent thymectomy had a lower time-weighted average Quantitative Myasthenia Gravis score over a 3-year period than those who received prednisone alone (6.15 vs. 8.99, P

Published
2016
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47. G.P.147 - Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: implications for clinical trials

Author

Ricotti, V, Eagle, M, Butler, J, Decostre, V, Deborah, R, Moraux, A, Anthony, Karen, Sleby, V, Guglieri, M, Van der Holst, M, Jansen, M, Morgan, J, de Groot, I, Niks, E, Verschuuren, J, Servais, L, Hogrel, J Y, Voit, T, Straub, V, and Muntoni, F

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities
Abstract

Novel emerging therapies for Duchenne muscular dystrophy (DMD), such as antisense oligomer (AO) mediated exon skipping, have generated the need of understanding the natural history study of the targeted genotype subgroups. Most natural history studies are focused on ambulant subjects; therefore very little data exists on non-ambulant DMD. Specifically targeting skippable deletions, we aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression beyond loss of ambulation.

Published
2015

48. The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations

Author

Bladen, C.L. Salgado, D. Monges, S. Foncuberta, M.E. Kekou, K. Kosma, K. Dawkins, H. Lamont, L. Roy, A.J. Chamova, T. Guergueltcheva, V. Chan, S. Korngut, L. Campbell, C. Dai, Y. Wang, J. Barišić, N. Brabec, P. Lahdetie, J. Walter, M.C. Schreiber-Katz, O. Karcagi, V. Garami, M. Viswanathan, V. Bayat, F. Buccella, F. Kimura, E. Koeks, Z. van den Bergen, J.C. Rodrigues, M. Roxburgh, R. Lusakowska, A. Kostera-Pruszczyk, A. Zimowski, J. Santos, R. Neagu, E. Artemieva, S. Rasic, V.M. Vojinovic, D. Posada, M. Bloetzer, C. Jeannet, P.-Y. Joncourt, F. Díaz-Manera, J. Gallardo, E. Karaduman, A.A. Topaloğlu, H. El Sherif, R. Stringer, A. Shatillo, A.V. Martin, A.S. Peay, H.L. Bellgard, M.I. Kirschner, J. Flanigan, K.M. Straub, V. Bushby, K. Verschuuren, J. Aartsma-Rus, A. Béroud, C. Lochmüller, H.

Abstract

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations). © 2015 The Authors.

Published
2015

49. Sensitivity of MG‐ADL for generalized weakness in myasthenia gravis.

Author

de Meel, R. H. P., Raadsheer, W. F., Verschuuren, J. J. G. M., Tannemaat, M. R., and van Zwet, E. W.

Subjects
MYASTHENIA gravis, ACTIVITIES of daily living, NEUROMUSCULAR diseases
Abstract

Background and purpose: Myasthenia gravis activities of daily living (MG‐ADL) is a commonly used questionnaire in MG trials. To investigate whether MG‐ADL is equally sensitive to oculobulbar and generalized weakness, its correlation with the oculobulbar and generalized domain of the quantitative myasthenia gravis (QMG) score was analyzed (QMGob and QMGgen, respectively). To test whether the sensitivity of MG‐ADL for generalized weakness could be improved, the additional value of ACTIVLIM on top of MG‐ADL in the prediction QMGgen in was investigated. Methods: MG‐ADL, QMG and ACTIVLIM, an ADL questionnaire focusing on generalized weakness, were analyzed in a prospective cohort of 112 MG patients. A generalized linear model was used to calculate the correlation of MG‐ADL with QMGob and QMGgen and to assess the additional value of ACTIVLIM on top of MG‐ADL for its correlation with QMGgen. Results: MG‐ADL had a higher correlation with QMGob than with QMGgen (B = 0.68, P < 0.001, and B = 0.38, P < 0.001, respectively). A similar trend was found for changes in the scores (B = 0.68, P = 0.132, and B = 0.39, P = 0.492, respectively). ACTIVLIM had a significant additional value on top of MG‐ADL in the prediction of QMGgen, both cross‐sectionally (B = −0.61, P < 0.001) and for changes within individual patients (B = −0.93, P = 0.041). Conclusion: MG‐ADL has a lower sensitivity for generalized weakness than for oculobulbar weakness. Adding questions on generalized weakness would improve the sensitivity of the MG‐ADL for generalized weakness. [ABSTRACT FROM AUTHOR]

Published
2019
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