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1. Sudoscan as a noninvasive tool to assess sudomotor dysfunction in patients with Fabry disease: results from a case–control study

Author

Sahuc P, Chiche L, Dussol B, Pouget J, and Franques J

Subjects
Electrochemical skin conductance, small fiber neuropathy, Fabry disease, sweat dysfunction, hypohidrosis, Therapeutics. Pharmacology, RM1-950
Abstract

Pauline Sahuc,1 Laurent Chiche,2 Bertrand Dussol,3 Jean Pouget,1 Jérôme Franques1,2,4 1Department of Neurology, La Timone Hospital, APHM, Aix-Marseille University, 2Department of Internal Medicine, European Hospital, 3Department of Nephrology, La Conception Hospital, APHM, Aix-Marseille University, 4Department of Neurology, La Casamance Hospital, Marseille, France Abstract: Hypohidrosis is a frequent and early symptom in patients with Fabry disease. Studies have reported improved sweating in patients treated with enzyme-replacement therapy. A new method, Sudoscan, has been developed that is noninvasive, is quantitative, and can quickly evaluate sweat gland function. It is based on the electrochemical reaction between sweat chlorides and stainless-steel electrodes in contact with the palms and soles. The aim of our study was to evaluate the Sudoscan as a tool to assess sudomotor dysfunction in patients with Fabry disease. Consecutive patients were prospectively recruited who had a diagnosis of Fabry disease, which had been confirmed genetically and/or by measurement of α-galactosidase activity in leukocytes. Healthy controls, matched (1:1) for age and sex, were also enrolled. Test results were expressed immediately as electrochemical skin conductance (ESC, µS) for hands and feet. Sudomotor dysfunction was considered absent, moderate, or severe if the ESC measured on the feet was >60 µS, between 60 and 40 µS, or

Published
2016

4. Myofibrillar myopathies: State of the art, present and future challenges

Author

Béhin, A., Salort-Campana, E., Wahbi, K., Richard, P., Carlier, R.-Y., Carlier, P., Laforêt, P., Stojkovic, T., Maisonobe, T., Verschueren, A., Franques, J., Attarian, S., Maues de Paula, A., Figarella-Branger, D., Bécane, H.-M., Nelson, I., Duboc, D., Bonne, G., Vicart, P., Udd, B., Romero, N., Pouget, J., and Eymard, B.

Published
2015
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5. Somatosensory evoked potentials in the assessment of peripheral neuropathies: Commented results of a survey among French-speaking practitioners and recommendations for practice

Author

Morizot-Koutlidis, R., André-Obadia, N., Antoine, J.-C., Attarian, S., Ayache, S.S., Azabou, E., Benaderette, S., Camdessanché, J.-P., Cassereau, J., Convers, P., d’Anglejean, J., Delval, A., Durand, M.-C., Etard, O., Fayet, G., Fournier, E., Franques, J., Gavaret, M., Guehl, D., Guerit, J.-M., Krim, E., Kubis, N., Lacour, A., Lozeron, P., Mauguière, F., Merle, P.-E., Mesrati, F., Mutschler, V., Nicolas, G., Nordine, T., Pautot, V., Péréon, Y., Petiot, P., Pouget, J., Praline, J., Salhi, H., Trébuchon, A., Tyvaert, L., Vial, C., Zola, J.-M., Zyss, J., and Lefaucheur, J.-P.

Published
2015
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9. Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses

Author

Draak, Thomas H. P., Vanhoutte, Els K., van Nes, Sonja I., Gorson, Kenneth C., Van der Pol, W.-Ludo, Notermans, Nicolette C., Nobile-Orazio, Eduardo, Lewis, Richard A., Léger, Jean-Marc, Van den Bergh, Peter Y. K., Lauria, Giuseppe, Bril, Vera, Katzberg, Hans, Lunn, Michael P. T., Pouget, Jean, van der Kooi, Anneke J., Hahn, Angelika F., van den Berg, Leonard H., van Doorn, Pieter A., Cornblath, David R., Faber, Catharina G., Merkies, Ingemar S. J., Barreira, A. A., Bennett, D., Hadden, R. D., Hughes, R. A.C., Lunn, M. P.T., Reilly, M. M., van den Berg, L. H., van Doorn, P. A., Faber, C. G., van der Kooi, A. J., Merkies, I. S.J., Notermans, N. C., Raaphorts, J., van Schaik, I. N., de Visser, M., Cats, E. A., Van den Bergh, P. Y.K., Bombelli, F., Costa, R., Franques, J., Léger, J-M., Pouget, J., Bril, V., Hahn, A. F., Katzberg, H., Campanella, A., Devigili, G., Gallia, F., Lauria, G., Nobile-Orazio, E., Padua, L., Cornblath, D. R., Gorson, K. C., Lewis, R. A., Illa, I, Querol, L., and van Nes, S. I.

Published
2015
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10. Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar

Author

Draak, Thomas H. P., Pruppers, Mariëlle H. J., van Nes, Sonja I., Vanhoutte, Els K., Bakkers, Mayienne, Gorson, Kenneth C., Van der Pol, W.-Ludo, Lewis, Richard. A., Notermans, Nicolette C., Nobile-Orazio, Eduardo, Léger, Jean-Marc, Van den Bergh, Peter Y. K., Lauria, Giuseppe, Bril, Vera, Katzberg, Hans, Lunn, Michael P. T., Pouget, Jean, van der Kooi, Anneke J., van den Berg, Leonard H., van Doorn, Pieter A., Cornblath, David R., Hahn, Angelika F., Faber, Catharina G., Merkies, Ingemar S. J., Barreira, A. A., Bennett, D., Hadden, R. D., Hughes, R. A.C., Lunn, M. P.T., Reilly, M. M., van den Berg, L. H., van Doorn, P. A., Faber, C. G., van der Kooi, A. J., Merkies, I. S.J., Notermans, N. C., Raaphorts, J., van Schaik, I. N., de Visser, M., Cats, E. A., Van den Bergh, P. Y.K., Bombelli, F., Costa, R., Franques, J., Léger, J-M., Pouget, J., Bril, V., Hahn, A. F., Katzberg, H., Campanella, A., Devigili, G., Gallia, F., Lauria, G., Nobile-Orazio, E., Padua, L., Cornblath, D. R., Gorson, K. C., Lewis, R. A., Illa, I, Querol, L., and van Nes, S. I.

Published
2015
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11. Outcome measures in MMN revisited: further improvement needed

Author

Pruppers, Mariëlle H. J., Draak, Thomas H. P., Vanhoutte, Els K., Van der Pol, W-Ludo, Gorson, Kenneth C., Léger, Jean-Marc, Nobile-Orazio, Eduardo, Lewis, Richard. A., van den Berg, Leonard H., Faber, Catharina G., Merkies, Ingemar S. J., Barreira, A. A., Bennett, D., Hadden, R. D., Hughes, R. A.C., Lunn, M. P.T., Reilly, M. M., van den Berg, L. H., van Doorn, P. A., Faber, C. G., van der Kooi, A. J., Merkies, I. S.J., Notermans, N. C., Raaphorts, J., van Schaik, I. N., de Visser, M., Cats, E. A., Van den Bergh, P. Y.K., Bombelli, F., Costa, R., Franques, J., Léger, J-M., Pouget, J., Bril, V., Hahn, A. F., Katzberg, H., Campanella, A., Devigili, G., Gallia, F., Lauria, G., Nobile-Orazio, E., Padua, L., Cornblath, D. R., Gorson, K. C., Lewis, R. A., Illa, I, Querol, L., and van Nes, S. I.

Published
2015
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12. Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison

Author

Vanhoutte, Els K., Draak, Thomas H. P., Gorson, Kenneth C., van Nes, Sonja I., Hoeijmakers, Janneke G. J., Van der Pol, W.-Ludo, Notermans, Nicolette. C., Lewis, Richard A., Nobile-Orazio, Eduardo, Léger, Jean-Marc, Van den Bergh, Peter Y. K., Lauria, Giuseppe, Bril, Vera, Katzberg, Hans, Lunn, Michael P. T., Pouget, Jean, van der Kooi, Anneke J., Hahn, Angelika F., van Doorn, Pieter A., Cornblath, David R., van den Berg, Leonard H., Faber, Catharina G., Merkies, Ingemar S. J., Barreira, A. A., Bennett, D., Hadden, R. D., Hughes, R. A.C., Lunn, M. P.T., Reilly, M. M., van den Berg, L. H., van Doorn, P. A., Faber, C. G., van der Kooi, A. J., Merkies, I. S.J., Notermans, N. C., Raaphorts, J., van Schaik, I. N., de Visser, M., Cats, E. A., Van den Bergh, P. Y.K., Bombelli, F., Costa, R., Franques, J., Léger, J-M., Pouget, J., Bril, V., Hahn, A. F., Katzberg, H., Campanella, A., Devigili, G., Gallia, F., Lauria, G., Nobile-Orazio, E., Padua, L., Cornblath, D. R., Gorson, K. C., Lewis, R. A., Illa, I, Querol, L., and van Nes, S. I.

Published
2015
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13. Rasch-ionale for neurologists

Author

Vanhoutte, Els K., Hermans, Mieke C. E., Faber, Catharina G., Gorson, Kenneth C., Merkies, Ingemar S. J., Thonnard, Jean-L., Barreira, A. A., Bennett, D., Hadden, R. D., Hughes, R. A.C., Lunn, M. P.T., Reilly, M. M., van den Berg, L. H., van Doorn, P. A., Faber, C. G., van der Kooi, A. J., Merkies, I. S.J., Notermans, N. C., Raaphorts, J., van Schaik, I. N., de Visser, M., Cats, E. A., Van den Bergh, P. Y.K., Bombelli, F., Costa, R., Franques, J., Léger, J-M., Pouget, J., Bril, V., Hahn, A. F., Katzberg, H., Campanella, A., Devigili, G., Gallia, F., Lauria, G., Nobile-Orazio, E., Padua, L., Cornblath, D. R., Gorson, K. C., Lewis, R. A., Illa, I, Querol, L., and van Nes, S. I.

Published
2015
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14. Rasch-built Overall Disability Scale for Multifocal motor neuropathy (MMN-RODS©)

Author

Vanhoutte, Els K., Faber, Catharina G., van Nes, Sonja I., Cats, Elisabeth A., Van der Pol, W.-Ludo, Gorson, Kenneth C., van Doorn, Pieter A., Cornblath, David R., van den Berg, Leonard H., Merkies, Ingemar S. J., Barreira, A. A., Bennett, D., Hadden, R. D., Hughes, R. A.C., Lunn, M. P.T., Reilly, M. M., van den Berg, L. H., van Doorn, P. A., Faber, C. G., van der Kooi, A. J., Merkies, I. S.J., Notermans, N. C., Raaphorts, J., van Schaik, I. N., de Visser, M., Cats, E. A., Van den Bergh, P. Y.K., Bombelli, F., Costa, R., Franques, J., Léger, J-M., Pouget, J., Bril, V., Hahn, A. F., Katzberg, H., Campanella, A., Devigili, G., Gallia, F., Lauria, G., Nobile-Orazio, E., Padua, L., Cornblath, D. R., Gorson, K. C., Lewis, R. A., Illa, I, Querol, L., and van Nes, S. I.

Published
2015
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16. CHANNELOPATHIES AND RELATED DISORDERS

Author

Vicart, S., primary, Franques, J., additional, Bouhour, F., additional, Magot, A., additional, Péréon, Y., additional, Sacconi, S., additional, Nadaj-Pakleza, A., additional, Behin, A., additional, Zahr, N., additional, Hezode, M., additional, Fournier, E., additional, Payan, C., additional, Lacomblez, L., additional, and Fontaine, B., additional

Published
2021
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17. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

Author

Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., and Thauvin-Robinet, C.

Published
2015
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21. Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies

Author

Merkies, Ingemar S. J., van Schaik, Ivo N., Léger, Jean-Marc, Bril, Vera, van Geloven, Nan, Hartung, Hans-Peter, Lewis, Richard A., Sobue, Gen, Lawo, John-Philip, Durn, Billie L., Cornblath, David R., De Bleecker, Jan L., Sommer, Claudia, Robberecht, Wim, Saarela, Mika, Kamienowski, Jerzy, Stelmasiak, Zbigniew, Tackenberg, Björn, Mielke, Orell, Sabet, A., George, K., Roberts, L., Carne, R., Blum, S., Henderson, R., Van Damme, P., Demeestere, J., Larue, S., D'Amour, C., Kunc, P., Valis, M., Sussova, J., Kalous, T., Talab, R., Bednar, M., Toomsoo, T., Rubanovits, I., Gross-Paju, K., Sorro, U., Saarela, M., Auranen, M., Pouget, J., Attarian, S., Masson, G. Le, Wielanek-Bachelet, A., Desnuelle, C., Delmont, E., Clavelou, P., Aufauvre, D., Schmidt, J., Zschuentzsch, J., Sommer, C., Kramer, D., Hoffmann, O., Goerlitz, C., Haas, J., Chatzopoulos, M., Yoon, R., Gold, R., Berlit, P., Jaspert-Grehl, A., Liebetanz, D., Kutschenko, A., Stangel, M., Trebst, C., Baum, P., Bergh, F., Klehmet, J., Meisel, A., Klostermann, F., Oechtering, J., Lehmann, H., Schroeter, M., Hagenacker, T., Mueller, D., Sperfeld, A., Bethke, F., Drory, V., Algom, A., Yarnitsky, D., Murinson, B., Di Muzio, A., Ciccocioppo, F., Sorbi, S., Mata, S., Schenone, A., Grandis, M., Lauria, G., Cazzato, D., Antonini, G., Morino, S., Cocito, D., Zibetti, M., Yokota, T., Ohkubo, T., Kanda, T., Kawai, M., Kaida, K., Onoue, H., Kuwabara, S., Mori, M., Iijima, M., Ohyama, K., Baba, M., Tomiyama, M., Nishiyama, K., Akutsu, T., Yokoyama, K., Kanai, K., van Schaik, I. N., Eftimov, F., Notermans, N. C., Visser, N., Faber, C., Hoeijmakers, J., Rejdak, K., Chyrchel-Paszkiewicz, U., Casanovas Pons, C., Antonia, M., Gamez, J., Salvado, M., Infante, C. Marquez, Benitez, S., Lunn, M., Morrow, J., Gosal, D., Lavin, T., Melamed, I., Testori, A., Ajroud-Driss, S., Menichella, D., Simpson, E., Lai, E. Chi-Ho, Dimachkie, M., Barohn, R. J., Beydoun, S., Johl, H., Lange, D., Shtilbans, A., Muley, S., Ladha, S., Freimer, M., Kissel, J., Latov, N., Chin, R., Ubogu, E., Mumfrey, S., Rao, T., Macdonald, P., Sharma, K., Gonzalez, G., Allen, J., Walk, D., Hobson-Webb, L., Gable, K., De Bleecker, J. L., Robberecht, W., Franques, J., Léger, J. -M., Morales, R. Juntas, Nguento, A., Schrey, Ch., Kamienowski, J., Stelmasiak, Z., Zwolińska, G., Neurology, AII - Infectious diseases, ANS - Neuroinfection & -inflammation, CSL Behring, Neurologian yksikkö, Clinicum, Department of Food and Nutrition, and HUS Neurocenter

Subjects
Research Report, Male, Outcome Assessment, efficacy, Medizin, Chronic inflammatory demyelinating polyneuropathy, CIDP, IVIG, PATH, PRIMA, Neuroscience (all), Neurology (clinical), INFLAMMATORY DEMYELINATING POLYNEUROPATHY, 3124 Neurology and psychiatry, law.invention, Grip strength, 0302 clinical medicine, Randomized controlled trial, law, Interquartile range, hemic and lymphatic diseases, Outcome Assessment, Health Care, 80 and over, Medicine and Health Sciences, Prospective Studies, Chronic Inflammatory Demyelinating, Prospective cohort study, Aged, 80 and over, education.field_of_study, General Neuroscience, Immunoglobulins, Intravenous, Middle Aged, OPEN-LABEL, humanities, 3. Good health, PREVALENCE, Europe, 030220 oncology & carcinogenesis, Cohort, POLYRADICULONEUROPATHY, Female, Intravenous, Polyneuropathy, Life Sciences & Biomedicine, Adult, medicine.medical_specialty, Efficacy, Neuroscience(all), Population, Clinical Neurology, Immunoglobulins, MAINTENANCE TREATMENT, 03 medical and health sciences, Young Adult, Double-Blind Method, Internal medicine, medicine, Journal Article, Humans, Immunologic Factors, INTRAVENOUS IMMUNOGLOBULIN, Aged, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, education, Science & Technology, business.industry, Neurosciences, 3112 Neurosciences, Research Reports, medicine.disease, PHASE-III, Health Care, cidp, ivig, path, prima, Neurosciences & Neurology, business, 030217 neurology & neurosurgery
Abstract

PRIMA Trial Investigators and the PATH Study Group., Intravenous immunoglobulin (IVIG) is a potential therapy for chronic inflammatory demyelinating polyneuropathy (CIDP). To investigate the efficacy and safety of the IVIG IgPro10 (Privigen) for treatment of CIDP, results from Privigen Impact on Mobility and Autonomy (PRIMA), a prospective, open‐label, single‐arm study of IVIG in immunoglobulin (Ig)‐naïve or IVIG pre‐treated subjects (NCT01184846, n = 28) and Polyneuropathy And Treatment with Hizentra (PATH), a double‐blind, randomized study including an open‐label, single‐arm IVIG phase in IVIG pre‐treated subjects (NCT01545076, IVIG restabilization phase n = 207) were analyzed separately and together (n = 235). Efficacy assessments included change in adjusted inflammatory neuropathy cause and treatment (INCAT) score, grip strength and Medical Research Council (MRC) sum score. Adverse drug reactions (ADRs) and ADRs/infusion were recorded. Adjusted INCAT response rate was 60.7% in all PRIMA subjects at Week 25 (76.9% in IVIG pre‐treated subjects) and 72.9% in PATH. In the pooled cohort (n = 235), INCAT response rate was 71.5%; median time to INCAT improvement was 4.3 weeks. No clear demographic differences were noticed between early (responding before Week 7, n = 148) and late responders (n = 21). In the pooled cohort, median change from baseline to last observation was −1.0 (interquartile range −2.0; 0.0) point for INCAT score; +8.0 (0.0; 20.0) kPa for maximum grip strength; +3.0 (1.0; 7.0) points for MRC sum score. In the pooled cohort, 271 ADRs were reported in 105 subjects (44.7%), a rate of 0.144 ADRs per infusion. This analysis confirms the efficacy and safety of IgPro10, a recently FDA‐approved IVIG for CIDP, in a population of mainly pre‐treated subjects with CIDP [Correction added on 14 March 2019 after first online publication: the INCAT response rate has been corrected.].

Published
2019

26. Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

Author

Molenaar, J.P.F., Verhoeven, J.I., Rodenburg, R.J.T., Kamsteeg, E.J., Erasmus, C.E., Vicart, S., Behin, A., Bassez, G., Magot, A., Pereon, Y., Brandom, B.W., Guglielmi, V., Vattemi, G., Chevessier, F., Mathieu, J., Franques, J., Suetterlin, K., Hanna, M.G., Guyant-Marechal, L., Snoeck, M.M., Roberts, M.E., Kuntzer, T., Fernandez-Torron, R., Martinez-Arroyo, A., Seeger, J., Kusters, B., Treves, S., Engelen, B.G.M. van, Eymard, B., Voermans, N.C., Sternberg, D., Molenaar, J.P.F., Verhoeven, J.I., Rodenburg, R.J.T., Kamsteeg, E.J., Erasmus, C.E., Vicart, S., Behin, A., Bassez, G., Magot, A., Pereon, Y., Brandom, B.W., Guglielmi, V., Vattemi, G., Chevessier, F., Mathieu, J., Franques, J., Suetterlin, K., Hanna, M.G., Guyant-Marechal, L., Snoeck, M.M., Roberts, M.E., Kuntzer, T., Fernandez-Torron, R., Martinez-Arroyo, A., Seeger, J., Kusters, B., Treves, S., Engelen, B.G.M. van, Eymard, B., Voermans, N.C., and Sternberg, D.

Abstract

Contains fulltext : 218262.pdf (publisher's version ) (Open Access), Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutations in the ATP2A1 gene. Almost 50 years after the initial case presentation, only 18 patients have been reported and many questions regarding the clinical phenotype and results of ancillary investigations remain unanswered, likely leading to incomplete recognition and consequently under-diagnosis. Additionally, little is known about the natural history of the disorder, genotype-phenotype correlations, and the effects of symptomatic treatment. We studied the largest cohort of Brody disease patients to date (n = 40), consisting of 22 new patients (19 novel mutations) and all 18 previously published patients. This observational study shows that the main feature of Brody disease is an exercise-induced muscle stiffness of the limbs, and often of the eyelids. Onset begins in childhood and there was no or only mild progression of symptoms over time. Four patients had episodes resembling malignant hyperthermia. The key finding at physical examination was delayed relaxation after repetitive contractions. Additionally, no atrophy was seen, muscle strength was generally preserved, and some patients had a remarkable athletic build. Symptomatic treatment was mostly ineffective or produced unacceptable side effects. EMG showed silent contractures in approximately half of the patients and no myotonia. Creatine kinase was normal or mildly elevated, and muscle biopsy showed mild myopathic changes with selective type II atrophy. Sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA) activity was reduced and western blot analysis showed decreased or absent SERCA1 protein. Based on this cohort, we conclude that Brody disease should be considered in cases of exercise-induced muscle stiffness. When physical examination shows delayed relaxation, and there are no myotonic discharges at electromyography, we recommend direct sequencing of the ATP2A1 gene or next generation sequenc

Published
2020

27. Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies

Author

Merkies, ISJ, van Schaik, IN, Leger, J-M, Bril, V, van Geloven, N, Hartung, H-P, Lewis, RA, Sobue, G, Lawo, J-P, Durn, BL, Cornblath, DR, De Bleecker, JL, Sommer, C, Robberecht, W, Saarela, M, Kamienowski, J, Stelmasiak, Z, Tackenberg, B, Mielke, O, Sabet, A, George, K, Roberts, L, Carne, R, Blum, S, Henderson, R, Van Damme, P, Demeestere, J, Larue, S, D'Amour, C, Kunc, P, Valis, M, Sussova, J, Kalous, T, Talab, R, Bednar, M, Toomsoo, T, Rubanovits, I, Gross-Paju, K, Sorro, U, Auranen, M, Pouget, J, Attarian, S, Le Masson, G, Wielanek-Bachelet, A, Desnuelle, C, Delmont, E, Clavelou, P, Aufauvre, D, Schmidt, J, Zschuentzsch, J, Kramer, D, Hoffmann, O, Goerlitz, C, Haas, J, Chatzopoulos, M, Yoon, R, Gold, R, Berlit, P, Jaspert-Grehl, A, Liebetanz, D, Kutschenko, A, Stangel, M, Trebst, C, Baum, P, Bergh, F, Klehmet, J, Meisel, A, Klostermann, F, Oechtering, J, Lehmann, H, Schroeter, M, Hagenacker, T, Mueller, D, Sperfeld, A, Bethke, F, Drory, V, Algom, A, Yarnitsky, D, Murinson, B, Di Muzio, A, Ciccocioppo, F, Sorbi, S, Mata, S, Schenone, A, Grandis, M, Lauria, G, Cazzato, D, Antonini, G, Morino, S, Cocito, D, Zibetti, M, Yokota, T, Ohkubo, T, Kanda, T, Kawai, M, Kaida, K, Onoue, H, Kuwabara, S, Mori, M, Iijima, M, Ohyama, K, Baba, M, Tomiyama, M, Nishiyama, K, Akutsu, T, Yokoyama, K, Kanai, K, Eftimov, F, Notermans, NC, Visser, N, Faber, C, Hoeijmakers, J, Rejdak, K, Chyrchel-Paszkiewicz, U, Casanovas Pons, C, Antonia, M, Gamez, J, Salvado, M, Marquez Infante, C, Benitez, S, Lunn, M, Morrow, J, Gosal, D, Lavin, T, Melamed, I, Testori, A, Ajroud-Driss, S, Menichella, D, Simpson, Lai, EC-H, Dimachkie, M, Barohn, RJ, Beydoun, S, Johl, H, Lange, D, Shtilbans, A, Muley, S, Ladha, S, Freimer, M, Kissel, J, Latov, N, Chin, R, Ubogu, E, Mumfrey, S, Rao, T, MacDonald, P, Sharma, K, Gonzalez, G, Allen, J, Walk, D, Hobson-Webb, L, Gable, K, Franques, J, Morales, RJ, Nguento, A, Schrey, C, Zwolinska, G, Merkies, ISJ, van Schaik, IN, Leger, J-M, Bril, V, van Geloven, N, Hartung, H-P, Lewis, RA, Sobue, G, Lawo, J-P, Durn, BL, Cornblath, DR, De Bleecker, JL, Sommer, C, Robberecht, W, Saarela, M, Kamienowski, J, Stelmasiak, Z, Tackenberg, B, Mielke, O, Sabet, A, George, K, Roberts, L, Carne, R, Blum, S, Henderson, R, Van Damme, P, Demeestere, J, Larue, S, D'Amour, C, Kunc, P, Valis, M, Sussova, J, Kalous, T, Talab, R, Bednar, M, Toomsoo, T, Rubanovits, I, Gross-Paju, K, Sorro, U, Auranen, M, Pouget, J, Attarian, S, Le Masson, G, Wielanek-Bachelet, A, Desnuelle, C, Delmont, E, Clavelou, P, Aufauvre, D, Schmidt, J, Zschuentzsch, J, Kramer, D, Hoffmann, O, Goerlitz, C, Haas, J, Chatzopoulos, M, Yoon, R, Gold, R, Berlit, P, Jaspert-Grehl, A, Liebetanz, D, Kutschenko, A, Stangel, M, Trebst, C, Baum, P, Bergh, F, Klehmet, J, Meisel, A, Klostermann, F, Oechtering, J, Lehmann, H, Schroeter, M, Hagenacker, T, Mueller, D, Sperfeld, A, Bethke, F, Drory, V, Algom, A, Yarnitsky, D, Murinson, B, Di Muzio, A, Ciccocioppo, F, Sorbi, S, Mata, S, Schenone, A, Grandis, M, Lauria, G, Cazzato, D, Antonini, G, Morino, S, Cocito, D, Zibetti, M, Yokota, T, Ohkubo, T, Kanda, T, Kawai, M, Kaida, K, Onoue, H, Kuwabara, S, Mori, M, Iijima, M, Ohyama, K, Baba, M, Tomiyama, M, Nishiyama, K, Akutsu, T, Yokoyama, K, Kanai, K, Eftimov, F, Notermans, NC, Visser, N, Faber, C, Hoeijmakers, J, Rejdak, K, Chyrchel-Paszkiewicz, U, Casanovas Pons, C, Antonia, M, Gamez, J, Salvado, M, Marquez Infante, C, Benitez, S, Lunn, M, Morrow, J, Gosal, D, Lavin, T, Melamed, I, Testori, A, Ajroud-Driss, S, Menichella, D, Simpson, Lai, EC-H, Dimachkie, M, Barohn, RJ, Beydoun, S, Johl, H, Lange, D, Shtilbans, A, Muley, S, Ladha, S, Freimer, M, Kissel, J, Latov, N, Chin, R, Ubogu, E, Mumfrey, S, Rao, T, MacDonald, P, Sharma, K, Gonzalez, G, Allen, J, Walk, D, Hobson-Webb, L, Gable, K, Franques, J, Morales, RJ, Nguento, A, Schrey, C, and Zwolinska, G

Abstract

Intravenous immunoglobulin (IVIG) is a potential therapy for chronic inflammatory demyelinating polyneuropathy (CIDP). To investigate the efficacy and safety of the IVIG IgPro10 (Privigen) for treatment of CIDP, results from Privigen Impact on Mobility and Autonomy (PRIMA), a prospective, open-label, single-arm study of IVIG in immunoglobulin (Ig)-naïve or IVIG pre-treated subjects (NCT01184846, n = 28) and Polyneuropathy And Treatment with Hizentra (PATH), a double-blind, randomized study including an open-label, single-arm IVIG phase in IVIG pre-treated subjects (NCT01545076, IVIG restabilization phase n = 207) were analyzed separately and together (n = 235). Efficacy assessments included change in adjusted inflammatory neuropathy cause and treatment (INCAT) score, grip strength and Medical Research Council (MRC) sum score. Adverse drug reactions (ADRs) and ADRs/infusion were recorded. Adjusted INCAT response rate was 60.7% in all PRIMA subjects at Week 25 (76.9% in IVIG pre-treated subjects) and 72.9% in PATH. In the pooled cohort (n = 235), INCAT response rate was 71.5%; median time to INCAT improvement was 4.3 weeks. No clear demographic differences were noticed between early (responding before Week 7, n = 148) and late responders (n = 21). In the pooled cohort, median change from baseline to last observation was -1.0 (interquartile range -2.0; 0.0) point for INCAT score; +8.0 (0.0; 20.0) kPa for maximum grip strength; +3.0 (1.0; 7.0) points for MRC sum score. In the pooled cohort, 271 ADRs were reported in 105 subjects (44.7%), a rate of 0.144 ADRs per infusion. This analysis confirms the efficacy and safety of IgPro10, a recently FDA-approved IVIG for CIDP, in a population of mainly pre-treated subjects with CIDP [Correction added on 14 March 2019 after first online publication: the INCAT response rate has been corrected.].

Published
2019

29. The Brody disease cohort study: clarification of the phenotype

Author

Molenaar, J., primary, Verhoeven, J., additional, Voermans, N., additional, Mathieu, J., additional, Vattemi, G., additional, Franques, J., additional, Kuntzer, T., additional, Guyant-Marechal, L., additional, Vicart, S., additional, Behin, A., additional, Erasmus, C., additional, Brandom, B., additional, Matthews, E., additional, Suetterlin, K., additional, van Engelen, B., additional, Sternberg, D., additional, and Eymard, B., additional

Published
2017
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33. An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A (vol 9, 199, 2014)

Author

Attarian, S, Vallat, J-M, Magy, L, Funalot, B, Gonnaud, P-M, Lacour, A, Pereon, Y, Dubourg, O, Pouget, J, Micallef, J, Franques, J, Lefebvre, M-N, Ghorab, K, Al-Moussawi, M, Tiffreau, V, Preudhomme, M, Magot, A, Leclair-Visonneau, L, Stojkovic, T, Bossi, L, Lehert, P, Gilbert, W, Bertrand, V, Mandel, J, Milet, A, Hajj, R, Boudiaf, L, Scart-Gres, C, Nabirotchkin, S, Guedj, M, Chumakov, I, Cohen, D, Attarian, S, Vallat, J-M, Magy, L, Funalot, B, Gonnaud, P-M, Lacour, A, Pereon, Y, Dubourg, O, Pouget, J, Micallef, J, Franques, J, Lefebvre, M-N, Ghorab, K, Al-Moussawi, M, Tiffreau, V, Preudhomme, M, Magot, A, Leclair-Visonneau, L, Stojkovic, T, Bossi, L, Lehert, P, Gilbert, W, Bertrand, V, Mandel, J, Milet, A, Hajj, R, Boudiaf, L, Scart-Gres, C, Nabirotchkin, S, Guedj, M, Chumakov, I, and Cohen, D

Published
2016

36. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A.F., Boralevi, F., González-Enseñat, M.A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Yves, Francannet, C., Didonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A.B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S.C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., Thauvin-Robinet, C., UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A.F., Boralevi, F., González-Enseñat, M.A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Yves, Francannet, C., Didonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A.B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S.C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., and Thauvin-Robinet, C.

Abstract

Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.

Published
2015

39. Minimum clinically important difference analysis confirms the efficacy of IgPro10 in CIDP: the PRIMA trial.

Author

Merkies, Ingemar S. J., Lawo, John‐Philip, Edelman, Jonathan M., De Bleecker, Jan L., Sommer, Claudia, Robberecht, Wim, Saarela, Mika, Kamienowski, Jerzy, Stelmasiak, Zbigniew, Mielke, Orell, Tackenberg, Björn, Léger, Jean‐Marc, De Bleecker, J. L., Robberecht, W., Saarela, M., Franques, J., Léger, J.‐M., Juntas Morales, R., Sommer, C., and Nguento, A.

Subjects
DEMYELINATION, CHRONIC diseases, IMMUNOGLOBULINS, EVALUATION of medical care, PROLINE, BODY movement, DIAGNOSIS
Published
2017
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41. An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

Author

Attarian, S, Vallat, J-M, Magy, L, Funalot, B, Gonnaud, P-M, Lacour, A, Pereon, Y, Dubourg, O, Pouget, J, Micallef, J, Franques, J, Lefebvre, M-N, Ghorab, K, Al-Moussawi, M, Tiffreau, V, Preudhomme, M, Magot, A, Leclair-Visonneau, L, Stojkovic, T, Bossi, L, Lehert, P, Gilbert, W, Bertrand, V, Mandel, J, Milet, A, Hajj, R, Boudiaf, L, Scart-Gres, C, Nabirotchkin, S, Guedj, M, Chumakov, I, Cohen, D, Attarian, S, Vallat, J-M, Magy, L, Funalot, B, Gonnaud, P-M, Lacour, A, Pereon, Y, Dubourg, O, Pouget, J, Micallef, J, Franques, J, Lefebvre, M-N, Ghorab, K, Al-Moussawi, M, Tiffreau, V, Preudhomme, M, Magot, A, Leclair-Visonneau, L, Stojkovic, T, Bossi, L, Lehert, P, Gilbert, W, Bertrand, V, Mandel, J, Milet, A, Hajj, R, Boudiaf, L, Scart-Gres, C, Nabirotchkin, S, Guedj, M, Chumakov, I, and Cohen, D

Abstract

BACKGROUND: Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for the structural myelin protein PMP22, which induces abnormal Schwann cell differentiation and dysmyelination, eventually leading to axonal suffering then loss and muscle wasting. We favour the idea that diseases can be more efficiently treated when targeting multiple disease-relevant pathways. In CMT1A patients, we therefore tested the potential of PXT3003, a low-dose combination of three already approved compounds (baclofen, naltrexone and sorbitol). Our study conceptually builds on preclinical experiments highlighting a pleiotropic mechanism of action that includes downregulation of PMP22. The primary objective was to assess safety and tolerability of PXT3003. The secondary objective aimed at an exploratory analysis of efficacy of PXT3003 in CMT1A, to be used for designing next clinical development stages (Phase 2b/3). METHODS: 80 adult patients with mild-to-moderate CMT1A received in double-blind for 1 year Placebo or one of the three increasing doses of PXT3003 tested, in four equal groups. Safety and tolerability were assessed with the incidence of related adverse events. Efficacy was assessed using the Charcot-Marie-Tooth Neuropathy Score (CMTNS) and the Overall Neuropathy Limitations Scale (ONLS) as main endpoints, as well as various clinical and electrophysiological outcomes. RESULTS: This trial confirmed the safety and tolerability of PXT3003. The highest dose (HD) showed consistent evidence of improvement beyond stabilization. CMTNS and ONLS, with a significant improvement of respectively of 8% (0.4% - 16.2%) and 12.1% (2% - 23.2%) in the HD group versus the pool of all other groups, appear to be the most sensitive clinical endpoints to treatment despite their quasi-stability over one year under Placebo. Patients who did not deteriorate over one year were significantly more frequent in the HD group.

Published
2014

42. Changing outcome in inflammatory neuropathies

Author

Draak, Thomas H.P., primary, Vanhoutte, Els K., additional, van Nes, Sonja I., additional, Gorson, Kenneth C., additional, Van der Pol, W. Ludo, additional, Notermans, Nicolette C., additional, Nobile-Orazio, Eduardo, additional, Léger, Jean-Marc, additional, Van den Bergh, Peter Y.K., additional, Lauria, Giuseppe, additional, Bril, Vera, additional, Katzberg, Hans, additional, Lunn, Michael P.T., additional, Pouget, Jean, additional, van der Kooi, Anneke J., additional, Hahn, Angelika F., additional, Doorn, Pieter A. van, additional, Cornblath, David R., additional, van den Berg, Leonard H., additional, Faber, Catharina G., additional, Merkies, Ingemar S.J., additional, Barreira, A.A., additional, Bennett, D., additional, van den Berg, L.H., additional, Van den Bergh, P.Y.K., additional, Bombelli, F., additional, Bril, V., additional, Campanella, A., additional, Cats, E.A., additional, Cornblath, D.R., additional, Costa, R., additional, Devigili, G., additional, van Doorn, P.A., additional, Faber, C.G., additional, Franques, J., additional, Gallia, F., additional, Gorson, K.C., additional, Hadden, R.D., additional, Hahn, A.F., additional, Hughes, R.A.C., additional, Illa, I, additional, Katzberg, H., additional, van der Kooi, A.J., additional, Lauria, G., additional, Léger, J-M., additional, Lewis, R.A., additional, Lunn, M.P.T., additional, Merkies, I.S.J., additional, van Nes, S. I., additional, Nobile-Orazio, E., additional, Notermans, N.C., additional, Padua, L., additional, Pouget, J., additional, Querol, L., additional, Raaphorst, J., additional, Reilly, M.M., additional, van Schaik, I.N., additional, and de Visser, M., additional

Published
2014
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45. Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Author

Piard, J., primary, Aral, B., additional, Vabres, P., additional, Holder‐Espinasse, M., additional, Mégarbané, A., additional, Gauthier, S., additional, Capra, V., additional, Pierquin, G., additional, Callier, P., additional, Baumann, C., additional, Pasquier, L., additional, Baujat, G., additional, Martorell, L., additional, Rodriguez, A., additional, Brady, A. F., additional, Boralevi, F., additional, González‐Enseñat, M. A., additional, Rio, M., additional, Bodemer, C., additional, Philip, N., additional, Cordier, M.‐P., additional, Goldenberg, A., additional, Demeer, B., additional, Wright, M., additional, Blair, E., additional, Puzenat, E., additional, Parent, P., additional, Sznajer, Y., additional, Francannet, C., additional, DiDonato, N., additional, Boute, O., additional, Barlogis, V., additional, Moldovan, O., additional, Bessis, D., additional, Coubes, C., additional, Tardieu, M., additional, Cormier‐Daire, V., additional, Sousa, A. B., additional, Franques, J., additional, Toutain, A., additional, Tajir, M., additional, Elalaoui, S. C., additional, Geneviève, D., additional, Thevenon, J., additional, Courcet, J.‐B., additional, Rivière, J.‐B., additional, Collet, C., additional, Gigot, N., additional, Faivre, L., additional, and Thauvin‐Robinet, C., additional

Published
2014
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46. Antibodies to clustered acetylcholine receptor: expanding the phenotype

Author

Devic, P., primary, Petiot, P., additional, Simonet, T., additional, Stojkovic, T., additional, Delmont, E., additional, Franques, J., additional, Magot, A., additional, Vial, C., additional, Lagrange, E., additional, Nicot, A. S., additional, Risson, V., additional, Eymard, B., additional, and Schaeffer, L., additional

Published
2013
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47. Neurolymphomes primitifs

Author

Lagarde, S., primary, Tabouret, E., additional, Barrie, M., additional, Chinot, O., additional, Attarian, S., additional, and Franques, J., additional

Published
2013
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48. Correlation of the patient's reported outcome Inflammatory- RODS with an objective metric in immune-mediated neuropathies.

Author

Draak, T. H. P., Gorson, K. C., Vanhoutte, E. K., Nes, S. I., Doorn, P. A., Cornblath, D. R., Berg, L. H., Faber, C. G., Merkies, I. S. J., Barreira, A.A, Bennett, D, Van den Bergh, P.Y.K, Bombelli, F, Bril, V, Campanella, A, Cats, E.A, Costa, R, Devigili, G, Franques, J, and Gallia, F

Subjects
GUILLAIN-Barre syndrome, NEUROPATHY, IMMUNOGLOBULIN M, MONOCLONAL gammopathies, STATISTICAL correlation
Abstract

Background and purpose There is increasing interest in using patient-reported outcome measures ( PROMs) in clinical studies to capture individual changes over time. However, PROMs have also been criticized because they are entirely subjective. Our objective was to examine the relationship between a subjective PROM and an objective outcome tool in patients with Guillain-Barré syndrome ( GBS), chronic inflammatory demyelinating polyradiculoneuropathy ( CIDP) and gammopathy-related polyneuropathy ( MGUSP). Methods The Inflammatory Rasch-built Overall Disability Scale (I- RODS©, a multi-item scale that examines functionality) was completed by 137 patients with newly diagnosed (or relapsing) GBS (55), CIDP (59) and MGUSP (23) who were serially examined ( GBS/ CIDP, T0/T1/T3/T6/T12 months; MGUSP, T0/T3/T12). Possible association between the I- RODS findings and the vigorimeter scores, an objective linear instrument to assess grip strength, was examined. Results A significant correlating trend was found between the I- RODS and grip strength scores for the overall group and in each illness, independently. Conclusion The objectivity of patients' subjective report on their functional state based on a strong correlation between the I- RODS and grip strength in patients with GBS, CIDP and MGUSP has been demonstrated. These findings provide further support to use the I- RODS and grip strength in future clinical studies in these conditions. [ABSTRACT FROM AUTHOR]

Published
2016
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