User menu

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

Bibliographic reference Attarian, Shahram ; Lehert, Philippe ; Gilbert, Walter ; Bertrand, Viviane ; Mandel, Jonas ; et. al. 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. In: Orphanet Journal of Rare Diseases, Vol. 9, no.1, p. 199 (2014)
Permanent URL http://hdl.handle.net/2078.1/171056
  1. Kochański A: Molecular genetics studies in polish Charcot-Marie-Tooth families. Folia Neuropathol 2005, 42:65–73.
  2. Patzkó Ágnes, Shy Michael E., Update on Charcot-Marie-Tooth Disease, 10.1007/s11910-010-0158-7
  3. Pareyson D., Scaioli V., Laurà M., Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease, 10.1385/nmm:8:1-2:3
  4. Bird TD: Charcot-Marie-Tooth Neuropathy Type 1. In ᅟ. ; 2014. GeneReviews® 1998 (Updated 2014) [ http://www.ncbi.nlm.nih.gov/books/NBK1205/ ]
  5. Gess Burkhard, Schirmacher Anja, Boentert Matthias, Young Peter, Charcot-Marie-Tooth disease: Frequency of genetic subtypes in a German neuromuscular center population, 10.1016/j.nmd.2013.05.005
  6. Foley Charlotte, Schofield Ian, Eglon Gail, Bailey Geraldine, Chinnery Patrick F, Horvath Rita, Charcot–Marie–Tooth disease in Northern England: Figure 1, 10.1136/jnnp-2011-300285
  7. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogenduk J.E, Baas F, Barker D.F, Martin J.J, De Visser M, Bolhuis P.A, Van Broeckhoven C, Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a), 10.1016/0960-8966(91)90055-w
  8. Lupski James R., Wise Carol A., Kuwano Akira, Pentao Liu, Parke Julie T., Glaze Daniel G., Ledbetter David H., Greenberg Frank, Patel Pragna I., Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A, 10.1038/ng0492-29
  9. Passage Edith, Norreel Jean Chrétien, Noack-Fraissignes Pauline, Sanguedolce Véronique, Pizant Josette, Thirion Xavier, Robaglia-Schlupp Andrée, Pellissier Jean François, Fontés Michel, Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease, 10.1038/nm1023
  10. Kaya Ferdinand, Belin Sophie, Bourgeois Patrice, Micaleff Joelle, Blin Olivier, Fontés Michel, Ascorbic acid inhibits PMP22 expression by reducing cAMP levels, 10.1016/j.nmd.2006.12.008
  11. Schenone Angelo, Nobbio Lucilla, Monti Bragadin Margherita, Ursino Giulia, Grandis Marina, Inherited Neuropathies, 10.1007/s11940-011-0115-z
  12. Gess B., Rohr D., Fledrich R., Sereda M. W., Kleffner I., Humberg A., Nowitzki J., Strecker J.-K., Halfter H., Young P., Sodium-Dependent Vitamin C Transporter 2 Deficiency Causes Hypomyelination and Extracellular Matrix Defects in the Peripheral Nervous System, 10.1523/jneurosci.3457-11.2011
  13. Verhamme Camiel, de Haan Rob J, Vermeulen Marinus, Baas Frank, de Visser Marianne, van Schaik Ivo N, Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial, 10.1186/1741-7015-7-70
  14. Burns Joshua, Ouvrier Robert A, Yiu Eppie M, Joseph Pathma D, Kornberg Andrew J, Fahey Michael C, Ryan Monique M, Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial, 10.1016/s1474-4422(09)70108-5
  15. Toth C., Poor tolerability of high dose ascorbic acid in a population of genetically confirmed adult Charcot-Marie-Tooth 1A patients, 10.1111/j.1600-0404.2008.01134.x
  16. Micallef Joëlle, Attarian Shahram, Dubourg Odile, Gonnaud Pierre-Marie, Hogrel Jean-Yves, Stojkovic Tanya, Bernard Rafaelle, Jouve Elisabeth, Pitel Severine, Vacherot Francois, Remec Jean-Francois, Jomir Laurent, Azabou Eric, Al-Moussawi Mahmoud, Lefebvre Marie-Noelle, Attolini Laurence, Yaici Sadek, Tanesse Daniel, Fontes Michel, Pouget Jean, Blin Olivier, Effect of ascorbic acid in patients with Charcot–Marie–Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial, 10.1016/s1474-4422(09)70260-1
  17. Pareyson Davide, Reilly Mary M, Schenone Angelo, Fabrizi Gian Maria, Cavallaro Tiziana, Santoro Lucio, Vita Giuseppe, Quattrone Aldo, Padua Luca, Gemignani Franco, Visioli Francesco, Laurà Matilde, Radice Davide, Calabrese Daniela, Hughes Richard AC, Solari Alessandra, Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial, 10.1016/s1474-4422(11)70025-4
  18. Lewis Richard A., High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A : Results of a Randomized, Double-Masked, Controlled Trial, 10.1001/jamaneurol.2013.3178
  19. Ainsworth Claire, Networking for new drugs, 10.1038/nm1011-1166
  20. Sereda Michael, Griffiths Ian, Pühlhofer Anja, Stewart Helen, Rossner Moritz J, Zimmermann Frank, Magyar Josef P, Schneider Armin, Hund Ernst, Meinck Hans-Michael, Suter Ueli, Nave Klaus-Armin, A Transgenic Rat Model of Charcot-Marie-Tooth Disease, 10.1016/s0896-6273(00)80128-2
  21. Magnaghi Valerio, Ballabio Marinella, Consoli Antonio, Lambert Jeremy J., Roglio Ilaria, Melcangi Roberto C., GABA Receptor-Mediated Effects in the Peripheral Nervous System: A Cross-Interaction With Neuroactive Steroids, 10.1385/jmn:28:1:89
  22. Stein Christoph, Lang Leonie Julia, Peripheral mechanisms of opioid analgesia, 10.1016/j.coph.2008.12.009
  23. Hay Michael, Thomas David W, Craighead John L, Economides Celia, Rosenthal Jesse, Clinical development success rates for investigational drugs, 10.1038/nbt.2786
  24. Reagan-Shaw S., Nihal M., Ahmad N., Dose translation from animal to human studies revisited, 10.1096/fj.07-9574lsf
  25. Shy M. E., Blake J., Krajewski K., Fuerst D. R., Laura M., Hahn A. F., Li J., Lewis R. A., Reilly M., Reliability and validity of the CMT neuropathy score as a measure of disability, 10.1212/01.wnl.0000156517.00615.a3
  26. Reilly MM, de Jonghe P, Pareyson D: 136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands. Neuromuscul Disord 2005, 2006(16):396–402.
  27. Reilly M.M., Shy M.E., Muntoni F., Pareyson D., 168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT), 10.1016/j.nmd.2010.08.001
  28. Komyathy Kelsey, Neal Stephanie, Feely Shawna, Miller Lindsey J., Lewis Richard A., Trigge George, Siskind Carly E., Shy Michael E., Ramchandren Sindhu, Anterior tibialis cmap amplitude correlations with impairment in CMT1A : AT CMAPs in CMT1A, 10.1002/mus.23614
  29. Murphy Sinéad M., Herrmann David N., McDermott Michael P., Scherer Steven S., Shy Michael E., Reilly Mary M., Pareyson Davide, Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease, 10.1111/j.1529-8027.2011.00350.x
  30. Graham R C, A modified peripheral neuropathy scale: the Overall Neuropathy Limitations Scale, 10.1136/jnnp.2005.081547
  31. Solari A., Laurà M., Salsano E., Radice D., Pareyson D., Reliability of clinical outcome measures in Charcot-Marie-Tooth disease, 10.1016/j.nmd.2007.09.006
  32. Guyatt GH, Sullivan MJ, Thompson PJ, Fallen EL, Pugsley SO, Taylor DW, Berman LB: The 6-minute walk: a new measure of exercise capacity in patients with chronic heart failure. Can Med Assoc J 1985, 132:919–923.
  33. Hogrel Jean-Yves, Payan Christine A., Ollivier Gwenn, Tanant Véronique, Attarian Shahram, Couillandre Annabelle, Dupeyron Arnaud, Lacomblez Lucette, Doppler Valérie, Meininger Vincent, Tranchant Christine, Pouget Jean, Desnuelle Claude, Development of a French Isometric Strength Normative Database for Adults Using Quantitative Muscle Testing, 10.1016/j.apmr.2007.07.011
  34. Senn Stephen, Testing for baseline balance in clinical trials, 10.1002/sim.4780131703
  35. O'Brien Peter C., Procedures for Comparing Samples with Multiple Endpoints, 10.2307/2531158
  36. Logan BR, Tamhane AC: On O’ Brien’ s OLS and GLS tests for multiple endpoints. Lect Notes-Monograph Ser 2006, 47:76–88.
  37. Ruberg Stephen J., Contrasts for Identifying the Minimum Effective Dose, 10.1080/01621459.1989.10478843
  38. Tamhane Ajit C., Hochberg Yosef, Dunnett Charles W., Multiple Test Procedures for Dose Finding, 10.2307/2533141
  39. One-sided or two-sided ρ values: which most appropriately address the question of drug efficacy?, 10.1080/10543409108835010
  40. Fisher Lloyd D., The use of one-sided tests in drug trials: an fda advisory committee member's perspective, 10.1080/10543409108835012
  41. Zhang Jun, Yu Kai F., What's the Relative Risk? : A Method of Correcting the Odds Ratio in Cohort Studies of Common Outcomes, 10.1001/jama.280.19.1690
  42. Chakraborty Hrishikesh, A mixed model approach for intent-to-treat analysis in longitudinal clinical trials with missing values, 10.3768/rtipress.2009.mr.0009.0903
  43. Shy M. E., Rose M. R., Charcot-Marie-Tooth disease impairs quality of life: Why? And how do we improve it?, 10.1212/01.wnl.0000181027.21574.df
  44. Padua L., Aprile I., Cavallaro T., Commodari I., Pareyson D., Quattrone A., Rizzuto N., Vita G., Tonali P., Schenone A., , Relationship between clinical examination, Quality of Life, disability and depression in CMT patients: Italian Multicenter study, 10.1007/s10072-008-0928-z
  45. Button Katherine S., Ioannidis John P. A., Mokrysz Claire, Nosek Brian A., Flint Jonathan, Robinson Emma S. J., Munafò Marcus R., Power failure: why small sample size undermines the reliability of neuroscience, 10.1038/nrn3475
  46. Shy M. E., Chen L., Swan E. R., Taube R., Krajewski K. M., Herrmann D., Lewis R. A., McDermott M. P., Neuropathy progression in Charcot-Marie-Tooth disease type 1A, 10.1212/01.wnl.0000297553.36441.ce
  47. Dyck P. J., Karnes J. L., Lambert E. H., Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1, 10.1212/wnl.39.10.1302
  48. Verhamme Camiel, van Schaik Ivo N., Koelman Johannes H. T. M., de Haan Rob J., Vermeulen Marinus, de Visser Marianne, Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia, 10.1007/s00415-004-0578-x
  49. Verhamme C., van Schaik I. N., Koelman J. H. T. M., de Haan R. J., de Visser M., The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study, 10.1093/brain/awp251
  50. Thomas P., The phenotypic manifestations of chromosome 17p11.2 duplication, 10.1093/brain/120.3.465