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3 results on '"CMT TRAUK, Group"'

1. Nerve conduction velocity in CMT1A: what else can we tell?

Author

Manganelli, F, Pisciotta, C, Reilly, Mm, Tozza, S, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Padua, Luca, Gemignani, F, Laurà, M, Hughes, Ra, Solari, A, Pareyson, D, Santoro, L, Cmt, Triaal, CMT TRAUK, Group, Padua, Luca (ORCID:0000-0003-2570-9326), Manganelli, F, Pisciotta, C, Reilly, Mm, Tozza, S, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Padua, Luca, Gemignani, F, Laurà, M, Hughes, Ra, Solari, A, Pareyson, D, Santoro, L, Cmt, Triaal, CMT TRAUK, Group, and Padua, Luca (ORCID:0000-0003-2570-9326)

Abstract

BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of the present study was to analyze the large amount of electrophysiological data collected in the ascorbic acid trial in Italy and the UK (CMT-TRIAAL/CMT-TRAUK) and to use these data to gain insights into the pathophysiology of NCV in CMT1A. METHODS: Baseline electrophysiological data from 271 patients were analysed. Electrophysiological recordings were taken from the motor ulnar, median and peroneal nerves and the sensory ulnar nerve. Distal motor latency (DML), motor (MNCV) and sensory (SNCV) nerve conduction velocity, and amplitudes of CMAPs and sensory action potentials were assessed. Electrophysiological findings were correlated with age of patients at examination and the Charcot-Marie-Tooth Examination Score (CMTES). RESULTS: NCV was markedly and uniformly reduced. CMAP amplitudes were overall reduced but more severely in lower limbs. DML decreased and MNCV and SNCV increased with age of the patients, whereas CMAP amplitudes worsened with age and also correlated with CMTES. CONCLUSIONS: This is the largest sample of electrophysiological data obtained so far from CMT1A patients. Axonal degeneration as assessed by means of CMAP amplitude reflected clinical impairment and was consistent with a slowly progressive length-dependent neuropathy. All patients typically had markedly slowed NCV that did, however, slightly increase with age of the patients. The improvement of NCV might depend on myelin thickness remodelling that occurs during the adult life of CMT1A patients.

Published
2016

2. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Author

Mannil, M., Solari, A., Leha, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Walter, M. C., Rautenstrauss, B., Schnizer, T. J., Schenone, A., Seeman, P., Kadian, C., Schreiber, O., Angarita, N. G., Fabrizi, G. M., Gemignani, F., Padua, L., Santoro, L., Quattrone, A., Vita, G., Calabrese, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Cavallaro, T., Casano, A., Bertolasi, L., Cabrini, I., Corra, K., Manganelli, F., Pisciotta, C., Nolano, M., Mazzeo, A., Aguennouz, M., Di Leo, R., Majorana, G., Lanzano, N., Valenti, F., Valentino, P., Nistico, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Visioli, F., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., Young, P., Laura, M., Haberlova, J., Mazanec, R., Paulus, W., Beissbarth, T., Shy, M. E., Reilly, M. M., Pareyson, D., Sereda, M. W., Manoj, Mannil, Alessandra, Solari, Andreas, Leha, Ana L., Pelayo Negro, Josè, Berciano, Beate Schlotter, Weigel, Maggie C., Walter, Bernd, Rautenstrau, Tuuli J., Schnizer, Angelo, Schenone, Pavel, Seeman, Chandini, Kadian, Olivia, Schreiber, Natalia G., Angarita, Gian Maria, Fabrizi, Franco, Gemignani, Luca, Padua, Santoro, Lucio, Aldo, Quattrone, Giuseppe, Vita, Daniela, Calabrese, Cmt, Trial, Manganelli, Fiore, CMT TRIAL Chiara, Pisciotta, CMT TRAUK, Group, Peter, Young, Matilde, Laurà, Jana, Haberlova, Radim, Mazanec, Walter, Paulu, Tim, Beissbarth, Michael E., Shy, Mary M., Reilly, Davide, Pareyson, and Michael W., Sereda

Subjects
Male, Outcome Assessment, CMTNS, Disease, Ascorbic Acid, Walking, Severity of Illness Index, Antioxidants, Cohort Studies, Charcot-Marie-Tooth Disease, Outcome Assessment, Health Care, Charcot-Marie-Tooth, CMT1A, HMSN, secondary clinical outcome measures, score generation, Cluster Analysis, Age Factor, Genetics (clinical), Score generation, Secondary clinical outcome measures, Adolescent, Adult, Age Factors, Disease Progression, Double-Blind Method, Female, Humans, Middle Aged, Muscle Strength, Pain Measurement, Psychomotor Performance, Young Adult, Snap, Outcome measures, Dorsal flexion, Compound muscle action potential, Settore MED/26 - NEUROLOGIA, Secondary clinical outcome measure, Neurology, Antioxidant, Human, medicine.medical_specialty, Outcome Assessment (Health Care), Physical medicine and rehabilitation, Disease severity, medicine, Sensory symptoms, Cluster Analysi, business.industry, Health Care, Pediatrics, Perinatology and Child Health, Sensory nerve action potential, Neurology (clinical), Cohort Studie, business
Abstract

This study evaluates primary and secondary clinical outcome measures in Charcot-Marie-Tooth disease type 1A (CMT1A) with regard to their contribution towards discrimination of disease severity. The nine components of the composite Charcot-Marie-Tooth disease Neuropathy Score and six additional secondary clinical outcome measures were assessed in 479 adult patients with genetically proven CMT1A and 126 healthy controls. Using hierarchical clustering, we identified four significant clusters of patients according to clinical severity. We then tested the impact of each of the CMTNS components and of the secondary clinical parameters with regard to their power to differentiate these four clusters. The CMTNS components ulnar sensory nerve action potential (SNAP), pin sensibility, vibration and strength of arms did not increase the discriminant value of the remaining five CMTNS components (Ulnar compound motor action potential [CMAP], leg motor symptoms, arm motor symptoms, leg strength and sensory symptoms). However, three of the six additional clinical outcome measures the 10 m-timed walking test (T10MW), 9 hole-peg test (9HPT), and foot dorsal flexion dynamometry further improved discrimination between severely and mildly affected patients. From these findings, we identified three different composite measures as score hypotheses and compared their discriminant power with that of the CMTNS. A composite of eight components CMAP, Motor symptoms legs, Motor symptoms arms, Strength of Legs, Sensory symptoms), displayed the strongest power to discriminate between the clusters. As a conclusion, five items from the CMTNS and three secondary clinical outcome measures improve the clinical assessment of patients with CMT1A significantly and are beneficial for upcoming clinical and therapeutic trials. (C) 2014 Elsevier B.V. All rights reserved.

Published
2014
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3. Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations

Author

Visioli, F, Reilly, Mm, Rimoldi, M, Solari, A, Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, Angelo, Narciso, E, Grandis, Marina, Monti Bragadin, M, Nobbio, Lucilla, Fabrizi, Gm, Cavallaro, T, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Manganelli, F, Pisciotta, C, Nolano, M, Vita, G, Mazzeo A, ., Aguennouz, M, Di Leo, R, Majorana, G, Lanzano N, ., Valenti, F, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Padua, L, Pazzaglia, C, Granata, G, Foschini, M, Gemignani, F, Brindani, F, Vitetta, F, Allegri, I, Bogani, P. ., Visioli, F, Reilly, Mm, Rimoldi, M, Solari, A, Pareyson, D, Manganelli, Fiore, Cmt, Triaal2, CMT TRAUK, Group, Pisciotta, Chiara, Santoro, Lucio, and for the CMT, Triaal

Subjects
Drug, congenital, hereditary, and neonatal diseases and abnormalities, Ascorbic acid, Charcot-Marie-Tooth disease, Myelin, Neuromuscular disorders, Pharmacology, Pharmacology (medical), Food Science, media_common.quotation_subject, Disease, Charcot–Marie–Tooth disease, Article, law.invention, Randomized controlled trial, Pharmacokinetics, law, Medicine, media_common, Vitamin C, business.industry, Clinical trial, Tolerability, business
Abstract

Highlights ► Charcot-Marie-Tooth 1A cannot rely on effective pharmacological treatment. ► Several human trials failed to provide evidence of a therapeutic role of vitamin C. ► Human vitamin C's pharmacokinetics are tightly regulated. ► Ascorbic acid should not be given in excess of its transport system capacity., Charcot–Marie–Tooth 1A disease (CMT1A) is a disease for which no drug treatments are available. In 2004, it was reported that ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing PMP22, an animal model of human CMT1A, compared with untreated mice. Based on those results, clinical trials were undertaken at different centers worldwide and four of them have been completed, but none of them resulted in significant improvements. Based on the pharmacokinetics of ascorbic acid, we propose that the randomized clinical trial carried out thus far confirmed the tight control of ascorbic acid's absorption and proved its tolerability at one and two years. The pharmacokinetic considerations discussed in this article might largely explain the disappointing results of the recent CMT1A trials.

Published
2013

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