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1. Is overwork weakness relevant in Charcot–Marie–Tooth disease?

Author

Piscosquito, G, Reilly, M M, Schenone, A, Fabrizi, G M, Cavallaro, T, Santoro, L, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Calabrese, D, Hughes, R A C, Radice, D, Solari, A, Pareyson, 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, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Manganelli, F, Pisciotta, C, Nolano, M, Mazzeo, A, Di Leo, R, Majorana, G, Russo, M, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, and Lunn, M

Published
2014
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2. PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot–Marie–Tooth 1A biomarker

Author

Nobbio, Lucilla, Visigalli, Davide, Radice, Davide, Fiorina, Elisabetta, Solari, Alessandra, Lauria, Giuseppe, Reilly, Mary M., Santoro, Lucio, Schenone, Angelo, Pareyson, Davide, Pareyson, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Schenone, A., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Fabrizi, G. M., 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., Visioli, F., Bogani, P., and Visioli, F.

Published
2014
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3. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

Author

Pareyson, D, Reilly, Mm, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Radice, D, Calabrese, D, Hughes, Ra, Solari, A, 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, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Nolano, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Majorana, G, Lanzano, N, Valenti, F, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Mancardi, Gl, Cavaletti, G, Galimberti, S, Ferrari, G, Sereda, M., NOLANO, MARIA, SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA, Pareyson, D, Reilly, Mm, Schenone, A, Fabrizi, Gm, Cavallaro, T, Santoro, Lucio, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Radice, D, Calabrese, D, Hughes, Ra, Solari, A, 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, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Manganelli, Fiore, Pisciotta, Chiara, Nolano, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Majorana, G, Lanzano, N, Valenti, F, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Mancardi, Gl, Cavaletti, G, Galimberti, S, Ferrari, G, Sereda, M., Nolano, Maria, Reilly, M, Fabrizi, G, Hughes, R, for the CMT, T, CMT TRAUK, G, and CMT TRAUK, g. r. o. u. p. s.

Subjects
Male, patients, Antioxidants, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 1A, 0303 health sciences, CMT1A, ascorbic acid, neuropathy, trial, Middle Aged, Charcot-Marie-Tooth Disease Type 1A, drug therapy, 3. Good health, Settore MED/26 - NEUROLOGIA, Treatment Outcome, Tolerability, Female, Antioxidant, Human, Adult, medicine.medical_specialty, SF-36, Adolescent, Clinical Neurology, double-blind controlled trial, Placebo, Double blind, 03 medical and health sciences, Acido ascorbico, Double-Blind Method, Internal medicine, medicine, Fast track — Articles, Humans, Adverse effect, 030304 developmental biology, Aged, business.industry, Ascorbic acid, Adolescent, Adult, Aged, Antioxidants, therapeutic use, Ascorbic Acid, therapeutic use, Charcot-Marie-Tooth Disease, drug therapy, Double-Blind Method, Female, Humans, Male, Middle Aged, Treatment Outcome, Surgery, therapeutic use, Charcot Marie Tooth, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Summary Background Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing peripheral myelin protein 22 ( PMP22 ), a model of Charcot–Marie–Tooth disease type 1A (CMT1A) associated with the PMP22 duplication. However, in three 1-year trials, ascorbic acid had no benefit in human beings. We did a multicentre 2-year trial to test the efficacy and tolerability of ascorbic acid in patients with CMT1A. Methods Adult patients (aged 18–70 years) with symptomatic CMT1A were enrolled from nine centres in Italy and the UK, and were randomly assigned (1:1 ratio) to receive 1·5 g/day oral ascorbic acid or matching placebo for 24 months. The randomisation sequence was computer generated by block randomisation, stratified by centre and disease severity, and patients were allocated to treatment by telephone. The primary outcome was change in the CMT neuropathy score (CMTNS) at 24 months. Secondary outcomes were timed 10 m walk test, nine-hole peg test, overall neuropathy limitations scale, distal maximal voluntary isometric contraction, visual analogue scales for pain and fatigue, 36-item short-form questionnaire, and electrophysiological measurements. Patients, treating physicians, and physicians assessing outcome measures were masked to treatment allocation. Analysis of the primary outcome was done on all randomised patients who received at least one dose of study drug. This study is registered, numbers ISRCTN61074476 (CMT-TRAUK) and EudraCT 2006-000032-27 (CMT-TRIAAL). Findings We enrolled and randomly assigned 277 patients, of whom six (four assigned to receive ascorbic acid) withdrew consent before receiving treatment; 138 receiving ascorbic acid and 133 receiving placebo were eligible for analysis. Treatment was well tolerated: 241 of 271 patients (89% in each group) completed the study; 20 patients (nine receiving ascorbic acid) dropped out because of adverse events. Mean CMTNS at baseline with missing data imputed was 14·7 (SD 4·8) in the ascorbic acid group and 13·9 (4·2) in the placebo group. Mean worsening of CMTNS was 0·2 (SD 2·8, 95% CI −0·3 to 0·7) in the ascorbic acid group and 0·2 (2·7, −0·2 to 0·7) in the placebo group (mean difference 0·0, 95% CI −0·6 to 0·7; p=0·93). We recorded no differences between the groups for the secondary outcomes at 24 months. 21 serious adverse events occurred in 20 patients, eight in the ascorbic acid group and 13 in the placebo group. Interpretation Ascorbic acid supplementation had no significant effect on neuropathy compared with placebo after 2 years, suggesting that no evidence is available to support treatment with ascorbic acid in adults with CMT1A. Funding Telethon-UILDM and AIFA (Italian Medicines Agency) for CMT-TRI AA L, and Muscular Dystrophy Campaign for CMT-TRAUK.

Published
2011

4. Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease

Author

Piscosquito, G., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Manganelli, F., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laurà, M., Calabrese, D., Hughes, R. A. C., Radice, D., Solari, A., Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Ferrari, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti-Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Pisciotta, C, Nolano, M, Mazzeo, A, R Di Leo, Majorana, G, Russo, M, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Piscosquito, G, Reilly, M. M, Schenone, A, Fabrizi, G. M, Cavallaro, T, Santoro, Lucio, Manganelli, Fiore, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Calabrese, D, Hughes, R. A. C, Radice, D, Solari, A, Pareyson, D., and Nolano, Maria

Subjects
Adult, Male, Change over time, medicine.medical_specialty, responsiveness, Charcot−Marie−Tooth disease, Disease, Placebo, hereditary motor sensory neuropathy, Tooth disease, Charcot-Marie-Tooth Disease, Outcome Assessment, Health Care, Humans, Medicine, Charcot-Marie-Tooth disease, Clinical trials, Evaluative outcome measures, Hereditary motor sensory neuropathy, Responsiveness, Clinical Trials as Topic, Exercise Test, Female, Middle Aged, Outcome Assessment (Health Care), Neurology, Neurology (clinical), clinical trials, evaluative outcome measures, evaluative outcome measure, business.industry, Outcome measures, clinical trial, Charcot−Marie−Tooth disease,clinical trials,evaluative outcome measures,hereditary motor sensory neuropathy,responsiveness, Ascorbic acid, Clinical trial, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Physical therapy, Upper limb, business, Settore MED/34 - MEDICINA FISICA E RIABILITATIVA
Abstract

Background and purpose Charcot−Marie−Tooth disease (CMT) is a very slowly progressive neuropathy which makes it difficult to detect disease progression over time and to assess intervention efficacy. Experience from completed clinical trials with ascorbic acid and natural history studies confirm difficulties in detecting such changes. Consequently, sensitive-to-change outcome measures (OMs) are urgently needed. Methods The relative responsiveness of clinical scales of the Italian−UK ascorbic acid trial (placebo arm) were assessed by using the standardized response mean (SRM), which is the ratio of the paired scores mean change over time to the standard deviation of the score change (0 is worst responsiveness). Results Little worsening of OM scores was found over 2 years. In detail, the primary OM of the trial, the CMT Neuropathy Score version 1 (CMTNSv1), showed low responsiveness (SRM 0.13). Some CMTNS items showed slightly greater responsiveness (CMT Examination Score 0.17; CMTNS Signs 0.19). Myometric assessments of handgrip and foot dorsiflexion strength were the most responsive (SRM −0.31 and −0.38, respectively). Amongst the other measures, the nine-hole peg test, which assesses upper limb functioning, showed the best sensitivity to change (SRM 0.28). Conclusions Overall these OMs showed low or negligible responsiveness, confirming the need to improve current OMs and to develop novel ones for prognostic and interventional studies. However, handgrip and foot dorsiflexion myometry are worth retaining for future trials as they were the most responsive and are likely to be clinically relevant for patients.

Published
2015

5. Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

Author

Solari, A, Laurà, M, Salsano, E, Radice, D, Pareyson, D, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, A, Grandis, M, Narciso, E, Nobbio, L, Benedetti, L, Rizzuto, N, Fabrizi, Gm, Cavallaro, T, Bertolasi, L, Casano, A, Nolano, M, Vita, G, Mazzeo, A, Di Leo, R, Girlanda, P, Majorana, G, Aguennouz, M, Ciranni, A, Lanzano, N, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Clodomiro, A, Canino, M, Padua, L, Pazzaglia, C, Mignogna, T, Gemignani, F, Brindani, F, Vitetta, F, Visioli, F, Bogani, P, Hughes, Ra, Mancardi, Gl, Cavaletti, G, Galimberti, S, Calabrese, D, Ferrari, G, Santoro, L, Sereda, Mw, Lauria, G., SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA, Solari, A, Laurà, M, Salsano, E, Radice, D, Pareyson, D, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, A, Grandis, M, Narciso, E, Nobbio, L, Benedetti, L, Rizzuto, N, Fabrizi, Gm, Cavallaro, T, Bertolasi, L, Casano, A, Santoro, Lucio, Manganelli, Fiore, Pisciotta, Chiara, Nolano, M, Vita, G, Mazzeo, A, Di Leo, R, Girlanda, P, Majorana, G, Aguennouz, M, Ciranni, A, Lanzano, N, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Clodomiro, A, Canino, M, Padua, L, Pazzaglia, C, Mignogna, T, Gemignani, F, Brindani, F, Vitetta, F, Visioli, F, Bogani, P, Hughes, Ra, Mancardi, Gl, Cavaletti, G, Galimberti, S, Calabrese, D, Ferrari, G, Santoro, L, Sereda, Mw, and Lauria, G.

Published
2008

6. Is overwork weakness relevant in Charcot-Marie-Tooth disease?

Author

Piscosquito, G., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laura, M., Calabrese, D., Hughes, R. A. C., Radice, D., Solari, A., Pareyson, 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., Casano, A., Bertolasi, L., Cabrini, I., Corra, K., Rizzuto, N., Manganelli, F., Pisciotta, C., Nolano, M., Mazzeo, A., Di Leo, R., Majorana, G., Russo, M., Valentino, P., Nistico, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., G., Piscosquito, M. M., Reilly, A., Schenone, G. M., Fabrizi, T., Cavallaro, Santoro, Lucio, G., Vita, A., Quattrone, L., Padua, F., Gemignani, F., Visioli, M., Laura, D., Calabrese, R. A. C., Hughe, D., Radice, A., Solari, D., Pareyson, C., Marchesi, E., Salsano, L., Nanetti, C., Marelli, V., Scaioli, C., Ciano, M., Rimoldi, G., Lauria, E., Rizzetto, F., Camozzi, E., Narciso, M., Grandi, M., Monti Bragadin, L., Nobbio, A., Casano, L., Bertolasi, I., Cabrini, K., Corra, N., Rizzuto, Manganelli, Fiore, Pisciotta, Chiara, M., Nolano, A., Mazzeo, R., Di Leo, G., Majorana, M., Russo, P., Valentino, R., Nistico, D., Pirritano, A., Lucisano, M., Canino, C., Pazzaglia, G., Granata, M., Foschini, F., Brindani, F., Vitetta, I., Allegri, P., Bogani, J., Blake, M., Koltzenburg, E., Hutton, and M., Lunn

Subjects
Adult, Male, REHABILITATION, congenital, hereditary, and neonatal diseases and abnormalities, Weakness, medicine.medical_specialty, Neuromuscular disease, Adolescent, Cumulative Trauma Disorders, medicine.medical_treatment, physical activity, Neurogenetics, CLINICAL NEUROLOGY, overwork weakness, Functional Laterality, Young Adult, Charcot-Marie-Tooth Disease, Hand strength, medicine, Humans, Muscle Strength, Young adult, Muscle, Skeletal, Aged, Charcot-Marie-Tooth disease, lower limb, muscles, rehabilitation, Rehabilitation, Muscle Weakness, NEUROGENETICS, Hand Strength, business.industry, NEUROPATHY, Muscle weakness, Middle Aged, medicine.disease, Gait, Psychiatry and Mental health, Settore MED/26 - NEUROLOGIA, Physical therapy, Surgery, Female, HMSN (CHARCOT-MARIE-TOOTH), Neurology (clinical), medicine.symptom, business
Abstract

BACKGROUND: In overwork weakness (OW), muscles are increasingly weakened by exercise, work or daily activities. Although it is a well-established phenomenon in several neuromuscular disorders, it is debated whether it occurs in Charcot-Marie-Tooth disease (CMT). Dominant limb muscles undergo a heavier overload than non-dominant and therefore if OW occurs we would expect them to become weaker. Four previous studies, comparing dominant and non-dominant hand strength in CMT series employing manual testing or myometry, gave contradictory results. Moreover, none of them examined the behaviour of lower limb muscles. METHODS: We tested the OW hypothesis in 271 CMT1A adult patients by comparing bilateral intrinsic hand and leg muscle strength with manual testing as well as manual dexterity. RESULTS: We found no significant difference between sides for the strength of first dorsal interosseous, abductor pollicis brevis, anterior tibialis and triceps surae. Dominant side muscles did not become weaker than non-dominant with increasing age and disease severity (assessed with the CMT Neuropathy Score); in fact, the dominant triceps surae was slightly stronger than the non-dominant with increasing age and disease severity. DISCUSSION: Our data does not support the OW hypothesis and the consequent harmful effect of exercise in patients with CMT1A. Physical activity should be encouraged, and rehabilitation remains the most effective treatment for CMT patients. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Published
2014
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7. PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker

Author

Nobbio, L, Visigalli, D, Radice, D, Fiorina, E, Solari, A, Lauria, G, Reilly, Mm, Santoro, L, Schenone, A, Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti, M, Fabrizi, G, Cavallaro, T, Casano, A, Bertolasi, L, Cabrini, I, Corra, K, Rizzuto, N, Manganelli, F, Pisciotta, C, Nolano, M, Vita, Giuseppe, Mazzeo, Anna, Aguennouz, M'Hammed, DI LEO, Rita, Majorana, G, Lanzano, N, Valenti, F, Quattrone, A, Valentino, P, Nistico, R, Pirritano, D, Lucisano, A, Canino, M, Padua, L, Pazzaglia, C, Granata, G, Foschini, M, Gemignani, F, Brindani, F, Vitetta, F, Allegri, I, Visioli, F, Bogani, P, and Visioli, F.

Published
2014

8. 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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9. 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

10. 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

Author

Pareyson, D, Schenone, A, Fabrizi, Gm, Santoro, L, Padua, L, Quattrone, A, Vita, Giuseppe, Gemignani, F, Visioli, F, Solari, A, Salsano, E., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Grandis, M., Narciso, E., Nobbio, L., Benedetti, L., Rizzuto, N., Cavallaro, T., Bertolasi, L., Casano, A., Manganelli, F., Nolano, M., Pazzaglia, C., Valentino, P., Nistico’, R., Pirritano, D., Lucisano, A., Canino, M., Mazzeo, Anna, Aguennouz, M'Hammed, DI LEO, Rita, Girlanda, Paolo, Majorana, G., Ciranni, Annamaria, Lanzano, N., Brindani, F., Lettieri, C., and Bogani, P.

Published
2006

12. Ascorbic acid in charcot-marie-tooth disease type 1A (CMTTRIAAL and CMT-TRAUK): A double-blind randomised trial

Author

Pareyson, D., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Manganelli, L., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laurà, M., Radice, D., Calabrese, D., Hughes, R. A. C., Solari, A., Salsano, C., 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., Casano, A., Bertolasi, L., Cabrini, I., Corrà, K., Rizzuto, N., Pisciotta, C., Maria Nolano, Mazzeo, A., Aguennouz, M., Di Leo, R., Majorana, G., Lanzano, N., Valenti, F., Valentino, P., Nisticò, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., Cavaletti, G., Galimberti, S., Ferrari, G., Santoro, L., Manganelli, F., and Sereda, M.

13. Synthesis and biological evaluation of 4-phenylquinazoline-2-carboxamides designed as a novel class of potent ligands of the translocator protein

Author

Ciro Milite, Giorgio Stefancich, Claudia Martini, Elisa Rizzetto, Eleonora Da Pozzo, S Bendinelli, Federico Da Settimo, Barbara Costa, Sabrina Taliani, Sandro Cosconati, Giovanni Greco, Isabella Pugliesi, Ettore Novellino, Gianluca Sbardella, Sabrina Castellano, Castellano, S, Taliani, S, Milite, C, Pugliesi, I, Da Pozzo, E, Rizzetto, E, Bendinelli, S, Costa, B, Cosconati, Sandro, Greco, G, Novellino, E, Sbardella, G, Stefancich, G, Martini, C, Da, Settimo, Castellano, Sabrina, Taliani, Sabrina, Milite, Ciro, Pugliesi, Isabella, Da Pozzo, Eleonora, Rizzetto, Elisa, Bendinelli, Sara, Costa, Barbara, Greco, Giovanni, Novellino, Ettore, Sbardella, Gianluca, Stefancich, Giorgio, Martini, Claudia, and Da Settimo, Federico

Subjects
18 KDA, Cell Survival, Pharmaceutical Science, Binding, Competitive, Inhibitory Concentration 50, Structure-Activity Relationship, chemistry.chemical_compound, PERIPHERAL BENZODIAZEPINE-RECEPTOR, 18 KDA, GLIOBLASTOMA CELLS, APOPTOSIS, BINDING, BIOSYNTHESIS, RADIOLIGANDS, DERIVATIVES, TSPO, Biosynthesis, Cell Line, Tumor, Drug Discovery, BINDING, Translocator protein, Animals, Structure–activity relationship, PERIPHERAL BENZODIAZEPINE-RECEPTOR, BIOSYNTHESIS, Receptor, Biological evaluation, Molecular Structure, biology, Animal, Ligand, GLIOBLASTOMA CELLS, DERIVATIVES, Quinazoline, Receptors, GABA-A, Combinatorial chemistry, Rats, APOPTOSIS, chemistry, RADIOLIGANDS, Quinazolines, biology.protein, Rat, Molecular Medicine, Pharmacophore, Carrier Proteins, Carrier Protein, Selectivity, TSPO
Abstract

A series of novel 4-phenylquinazoline-2-carboxamides (1-58) were designed as aza-isosters of PK11195, the well-known 18 kDa translocator protein (TSPO) reference ligand, and synthesized by means of a very simple and efficient procedure. A number of these derivatives bind to the TSPO with K i values in the nanomolar/subnanomolar range, show selectivity toward the central benzodiazepine receptor (BzR) and exhibit structure-affinity relationships consistent with a previously published pharmacophore/topological model of ligand-TSPO interaction. © 2012 American Chemical Society.

Published
2012

14. Experimental Investigation on a Bladed Disk with Traveling Wave Excitation.

Author

Carassale L and Rizzetto E

Abstract

Bladed disks are key components of turbomachines and their dynamic behavior is strongly conditioned by their small accidental lack of symmetry referred to as blade mistuning. The experimental identification of mistuned disks is complicated due to several reasons related both to measurement and data processing issues. This paper describes the realization of a test rig designed to investigate the behavior of mistuned disks and develop or validate data processing techniques for system identification. To simplify experiments, using the opposite than in the real situation, the disk is fixed, while the excitation is rotating. The response measured during an experiment carried out in the resonance-crossing condition is used to compare three alternative techniques to estimate the frequency-response function of the disk.

Published
2021
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15. Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.

Author

Di Meo I, Colombelli C, Srinivasan B, de Villiers M, Hamada J, Jeong SY, Fox R, Woltjer RL, Tepper PG, Lahaye LL, Rizzetto E, Harrs CH, de Boer T, van der Zwaag M, Jenko B, Čusak A, Pahor J, Kosec G, Grzeschik NA, Hayflick SJ, Tiranti V, and Sibon OCM

Subjects
Animals, Cell Line, Disease Models, Animal, Drosophila, Humans, Mice, Pantetheine administration & dosage, Pantetheine chemical synthesis, Pantetheine isolation & purification, Pantetheine pharmacokinetics, Treatment Outcome, Heredodegenerative Disorders, Nervous System drug therapy, Pantetheine analogs & derivatives, Phosphotransferases (Alcohol Group Acceptor) deficiency, Serum chemistry
Abstract

Coenzyme A is an essential metabolite known for its central role in over one hundred cellular metabolic reactions. In cells, Coenzyme A is synthesized de novo in five enzymatic steps with vitamin B5 as the starting metabolite, phosphorylated by pantothenate kinase. Mutations in the pantothenate kinase 2 gene cause a severe form of neurodegeneration for which no treatment is available. One therapeutic strategy is to generate Coenzyme A precursors downstream of the defective step in the pathway. Here we describe the synthesis, characteristics and in vivo rescue potential of the acetyl-Coenzyme A precursor S-acetyl-4'-phosphopantetheine as a possible treatment for neurodegeneration associated with pantothenate kinase deficiency.

Published
2017
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16. Synthesis and biological evaluation of 4-phenylquinazoline-2-carboxamides designed as a novel class of potent ligands of the translocator protein.

Author

Castellano S, Taliani S, Milite C, Pugliesi I, Da Pozzo E, Rizzetto E, Bendinelli S, Costa B, Cosconati S, Greco G, Novellino E, Sbardella G, Stefancich G, Martini C, and Da Settimo F

Subjects
Animals, Binding, Competitive, Cell Line, Tumor, Cell Survival drug effects, Inhibitory Concentration 50, Molecular Structure, Quinazolines pharmacology, Rats, Structure-Activity Relationship, Carrier Proteins metabolism, Quinazolines chemical synthesis, Receptors, GABA-A metabolism
Abstract

A series of novel 4-phenylquinazoline-2-carboxamides (1-58) were designed as aza-isosters of PK11195, the well-known 18 kDa translocator protein (TSPO) reference ligand, and synthesized by means of a very simple and efficient procedure. A number of these derivatives bind to the TSPO with K(i) values in the nanomolar/subnanomolar range, show selectivity toward the central benzodiazepine receptor (BzR) and exhibit structure-affinity relationships consistent with a previously published pharmacophore/topological model of ligand-TSPO interaction.

Published
2012
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17. 5-aryl-imidazo[2,1-c][1,4]benzodiazepine derivatives as tricyclic constrained analogues of diazepam and Ro5-4864. Synthesis and binding properties at peripheral and central benzodiazepine receptors.

Author

Rizzetto E, Castellano S, Florio C, Vadori M, and Stefancich G

Subjects
Adrenal Cortex drug effects, Adrenal Cortex metabolism, Animals, Binding, Competitive drug effects, Cerebral Cortex drug effects, Cerebral Cortex metabolism, Isoquinolines pharmacokinetics, Rats, Benzodiazepines chemical synthesis, Benzodiazepines pharmacokinetics, Benzodiazepinones pharmacokinetics, Central Nervous System metabolism, Diazepam analogs & derivatives, Diazepam pharmacokinetics, Hypnotics and Sedatives pharmacokinetics, Imidazoles chemical synthesis, Imidazoles pharmacokinetics, Peripheral Nervous System metabolism, Receptors, GABA-A metabolism
Abstract

Four series of 5-aryl-imidazo[2,-c][1,4]benzodiazepine derivatives 1a-f, 2a-f, 3a-f, and 4a-f were synthesized and tested for their affinity at both the peripheral and central benzodiazepine receptors. Among the four series, only N-10 and C-11 sites were changed, mainly [N(CH3)-CO], [N=CH], [NH-CO], [NH-CH2], and in each series the halogen site was varied at the positions C-7, C-2', and C-4'. In particular, 10-methyl-benzodiazepinones 1a and 1b were designed as tricyclic constrained analogues of diazepam and Ro5-4864. All the tested compounds did not show significant binding activity at central benzodiazepine receptors, but relatively good PBzR binding affinities were found for 10-methyl-benzodiazepinone 1c and benzodiazepines 2b, c. Benzodiazepinones 3a-f were prepared by cyclization with 1,1'-carbonyldiimidazole of the corresponding 2-(aryl-imidazol-1-yl-methyl)-arylamines, obtained from the suitable (2-amino-aryl)-aryl-methanols with 1,1'-carbonyldiimidazole in different conditions. N-Alkylation of 3a-f to 1a-f was achieved using dimethylformamide-dimethylacetal. Reduction of 3a-f to 4a-f was accomplished with lithium aluminum hydride or borane and oxidation of 4a-f to 2a-f was performed with manganese (IV) oxide.

Published
2006
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