168th ENMC International workshop: Outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT)

Neuromuscular Disorders

Volumn 20, Issue 12, 2010, Pages 839-846

  Reilly, M M ^a   Shy, M E ^b   Muntoni, F ^c   Pareyson, D ^d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGESTAGEN; ASCORBIC ACID; CURCUMIN; LONAPRISAN; PERIPHERAL MYELIN PROTEIN 22; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHARCOT MARIE TOOTH DISEASE NEUROPATHY SCORE; CHROMOSOME 17; CLINICAL TRIAL; DRUG MEGADOSE; DRUG TOLERABILITY; DYNAMOMETER; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOTOR NERVE CONDUCTION; MUSCLE STRENGTH; NEUROPATHY IMPAIRMENT SCORE; NONHUMAN; OUTCOME ASSESSMENT; PHYSICAL DISABILITY; PHYSIOTHERAPY; PRIORITY JOURNAL; QUALITY OF LIFE; SCORING SYSTEM;

CHARCOT-MARIE-TOOTH DISEASE; CLINICAL TRIALS AS TOPIC; HUMANS; OUTCOME ASSESSMENT (HEALTH CARE);

EID: 78650170260     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.08.001     Document Type: Article

References (60)

1. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974, 6:98-118.
2. Young P., De Jonghe P., Stogbauer F., Butterfass-Bahloul T. Treatment for Charcot-Marie-Tooth disease. Cochrane Database Syst Rev 2008, CD006052.
3. Nelis E., Van Broeckhoven C., De Jonghe P., et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996, 4:25-33.
4. Lupski J.R., de Oca-Luna R.M., Slaugenhaupt S., et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991, 66:219-232.
5. Raeymaekers P., Timmerman V., Nelis E., et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1991, 1:93-97.
6. Passage E., Norreel J.C., Noack-Fraissignes P., et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 2004, 10:396-401.
7. Micallef J., Attarian S., Dubourg O., et al. A one-year multicenter, randomized, double-blind, placebo-controlled trial of high doses of ascorbic acid in Charcot-Marie-Tooth disease type 1A. Lancet Neurol 2009, 8:1103-1110.
8. Burns J., Ouvrier R.A., Yiu E.M., Joseph P.D., Kornberg A.J., Fahey M.C., et al. Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol 2009, 8(6):537-544.
9. Verhamme C., de Haan R.J., Vermeulen M., Baas F., de Visser M., van Schaik I.N. Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial. BMC Med 2009, 7:70.
10. Reilly M.M., 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 2006, 16:396-402.
11. Shy M.E., Blake J., Krajewski K., et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005, 64:1209-1214.
12. Shy M.E., Chen L., Swan E.R., et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology 2008, 70:378-383.
13. Sereda M.W., Meyer zu Horste G., Suter U., Uzma N., Nave K.A. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 2003, 9:1533-1537.
14. Khajavi M., Inoue K., Wiszniewski W., Ohyama T., Snipes G.J., Lupski J.R. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet 2005, 77:841-850.
15. Khajavi M., Shiga K., Wiszniewski W., et al. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 2007, 81:438-453.
16. Kuehn B.M. Studies point way to new therapeutic prospects for muscular dystrophy. JAMA 2007, 298:1385-1386.
17. Wilton S. PTC124, nonsense mutations and Duchenne muscular dystrophy. Neuromuscul Disord 2007, 17:719-720.
18. Reilly M.M., Shy M. Diagnosis and new treatments in genetic neuropathies. JNNP 2009, 80:1304-1314.
19. Verhamme C., van Schaik I.N., Koelman J.H., de Haan R.J., de Visser M. The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study. Brain 2009, 132:3252-3262.
20. Solari A., Laura M., Salsano E., Radice D., Pareyson D. Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. Neuromuscul Disord 2008, 18:19-26.
21. Gallardo E., García A., Combarros O., Berciano J. Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain 2006, 129:426-437.
22. Ouvrier R.A., McLeod J.G. Chronic peripheral neuropathy in childhood: an overview. Aust Paediatr J 1988, 24(Suppl. 1):80-82.
23. Ouvrier R.A., Nicholson G.A. Advances in the genetics of hereditary hypertrophic neuropathy in childhood. Brain Dev 1995, 17(Suppl.):31-38.
24. Ouvrier R., Geevasingha N., Ryan M.M. Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle Nerve 2007, 36(2):131-143.
25. Wilmshurst J.M., Pollard J.D., Nicholson G., et al. Peripheral neuropathies of infancy. Dev Med Child Neurol 2003, 45(6):408-414.
26. Shabo G., Pasman J.W., Van Allen N., Williamsen M.A. The spectrum of polyneuropathies in childhood detected with electromyography. Pediatr Neurol 2007, 36(6):393-396.
27. Kararizou E., Kararizou E., Pavaki P., et al. Polyneuropathies in teenagers: a clinicopathological study of 45 cases. Neuromuscul Disord 2006, 16(5):304-307.
28. Shy M. Ascorbic acid for treatment of CMT1A: the jury is still out. Lancet Neurol 2009, 8(6):505-507.
29. Iannaccone S.T., Hynan L.S. Reliability of 4 outcome measures in pediatric spinal muscular atrophy. Arch Neurol 2003, 60(8):1130-1136.
30. O'Hagen J.M., Glanzman A.M., Mc Dermott M.P., et al. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord 2007, 17(9-10):693-697.
31. Oeffinger D.J., Tylkowski C.M., Rayens M.K., et al. Gross Motor Function Classification System and outcome tools for assessing ambulatory cerebral palsy: a multicenter study. Dev Med Child Neurol 2004, 46(5):311-319.
32. Mayhew J.E., Florence J.M., Mayhew T.P., et al. Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy. Muscle Nerve 2007, 35(1):36-42.
33. Escolar D.M., Henricsen E.K., Mayhew J., et al. Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children. Muscle Nerve 2001, 24(6):787-793.
34. Berard C., Payan C., Hodgkinson I., et al. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord 2005, 15(7):463-470.
35. Tieman B.L., Palisano R.J., Sutlive A.C. Assessment of motor development and function in preschool children. Ment Retard Dev Disabil Res Rev 2005, 11(3):189-196.
36. Nelson L., Owens H., Hynan L.S., et al. The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy. Neuromuscul Disord 2006, 16(6):374-380.
37. Main M., Kairon H., Mercuri E., Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 2003, 7(4):155-159.
38. Krosschell K.J., Maczulski J.A., Crawford T.O., et al. A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul Disord 2006, 16(7):417-426.
39. Meier P.M., Berde C.B., DiCanzio J., et al. Quantitative assessment of cutaneous thermal and vibration sensation and thermal pain detection thresholds in healthy children and adolescents. Muscle Nerve 2001, 24(10):1339-1345.
40. Mercuri E., Mayhen A., Muntoni F., et al. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th-13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June-1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France. Neuromuscul Disord 2008, 18(11):894-903.
41. Toth C. Poor tolerability of high dose ascorbic acid in a population of genetically confirmed adult Charcot-Marie-Tooth 1A patients. Acta Neurol Scand 2009, 120:134-138.
42. Kilmer D.D., McCrory M.A., Wright N.C., et al. Hand-held dynamometry reliability in persons with neuropathic weakness. Arch Phys Med Rehabil 1997, 78:1364-1368.
43. Videler A.J., Beelen A., Aufdemkampe G., et al. Hand strength and fatigue in patients with hereditary motor and sensory neuropathy (types I and II). Arch Phys Med Rehabil 2002, 83:1274-1278.
44. Selles R.W., van Ginneken B.T.J., Schreuders T.A.R., et al. Dynamometry of intrinsic hand muscles in patients with Charcot-Marie-Tooth disease. Neurology 2006, 67:2022-2027.
45. Burns J., Redmond A., Ouvrier R., et al. Quantification of muscle strength and imbalance in neurogenic pes cavus, compared to health controls, using hand-held dynamometry. Foot Ankle Int 2005, 26:540-544.
46. Svensson E., Häger-Ross C. Hand function in Charcot-Marie-Tooth: test-retest reliability of some measurements. Clin Rehabil 2006, 20:896-908.
47. Rose K.J., Burns J., Ryan M.M., Ouvrier R.A., North K.N. Reliability of quantifying foot and ankle muscle strength in very young children. Muscle Nerve 2008, 37:626-631.
48. Kilmer D.D., Aitkens S.G., Wright N.C., et al. Simulated work performance tasks in persons with neuropathic and myopathic weakness. Arch Phys Med Rehabil 2000, 81:938-943.
49. Videler A.J., Beelen A., van Schaik I.N., et al. Manual dexterity in hereditary motor and sensory neuropathy type 1a: severity of limitations and feasibility and reliability of two assessment instruments. J Rehabil Med 2008, 40:132-136.
50. Schreuders T.A., Selles R.W., van Ginneken B.T., Janssen W.G., Stam H.J. Sensory evaluation of the hands in patients with Charcot-Marie-Tooth disease using Semmes-Weinstein monofilaments. J Hand Ther 2008, 21:28-34.
51. 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. Neurology 1989, 39:1302-1308.
52. Teunissen L.L., Notermans N.C., Franssen H., et al. Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study. Arch Neurol 2003, 60:823-828.
53. Verhamme C., van Schaik I.N., Koelman J.H., et al. Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy IA. J Neurol 2004, 251:1491-1497.
54. Krajewski K.M., Lewis R.A., Fuerst D.R., et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000, 123:1516-1527.
55. Padua L., Pareyson D., Aprile I., et al. Natural history of CMT1A including QoL: a 2-year prospective study. Neuromuscul Disord 2008, 18:199-203.
56. Videler A.J., Beelen A., Nollet F. Manual dexterity and related functional limitations in Hereditary Motor and Sensory Neuropathy. An explorative study. Disabil Rehabil 2008, 30:634-638.
57. Eklund E., Svensson E., Häger-Ross C. Hand function and disability of the arm, shoulder and hand in Charcot-Marie-Tooth disease. Disabil Rehabil 2009, 31:1955-1962.
58. Padua L., Aprile I., Cavallaro T., Commodari I., Pareyson D., Quattrone A., et al. Relationship between clinical examination, quality of life, disability and depression in CMT patients: Italian multicenter study. Neurol Sci 2008, 29:157-162.
59. Vandervelde L., Van den Bergh P.Y., Goemans N., Thonnard J.L. Activity limitations in patients with neuromuscular disorders: a responsiveness study of the ACTIVLIM questionnaire. Neuromuscul Disord 2009, 19:99-103.
60. Pareyson D., Schenone A., Fabrizi G.M., Santoro L., Padua L., Quattrone A., et al. A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT No.: 2006-000032-27]. Pharmacol Res 2006, 54:436-441.