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Acetyl-dl-leucine in Niemann-Pick type C: A case series

T. Bremova, V. Malinová, Y. Amraoui, E. Mengel, J. Reinke, M. Kolníková, M. Strupp,

. 2015 ; 85 (16) : 1368-75. [pub] 20150923

Language English Country United States

Document type Journal Article, Observational Study, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc16009952

OBJECTIVE: To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C (NP-C) disease. METHODS: Twelve patients with NP-C disease were treated with AL 3 g/d for 1 week and then with 5 g/d for 3 weeks with a subsequent washout period of 1 month. The Scale for the Assessment and Rating of Ataxia (SARA), the Spinocerebellar Ataxia Functional Index (SCAFI), the modified Disability Rating Scale (mDRS), EuroQol 5Q-5D-5L, and the visual analog scale (VAS) were administered. Measurements took place at baseline, after 1 month of therapy, and after 1 month of washout. RESULTS: The SARA score changed from the baseline (median [±SD, interquartile range]) of 10.8 (11.2, 8-24.6) to 7.0 (10.7, 5.6-19.6) on medication (difference: 3.8 points) and 10.5 (11.5, 7.1-23.9) after washout (difference: 3.5 points) (p = 0.000412; post hoc p = 0.003 between baseline and on medication, and on medication and washout p = 0.005). The SCAFI subscore 9-Hole Peg Test for dominant hand, mDRS score, and VAS score also improved on medication. No side effects except transient dizziness in one patient were reported. CONCLUSIONS: Treatment with AL improved ataxic symptoms in patients with NP-C without relevant side effects, thus showing a reasonable risk-benefit profile. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that AL improves cerebellar symptoms and quality of life in patients with NP-C.

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$a Bremova, Tatiana $u From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia. Tatiana.Bremova@med.uni-muenchen.de.
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$a Acetyl-dl-leucine in Niemann-Pick type C: A case series / $c T. Bremova, V. Malinová, Y. Amraoui, E. Mengel, J. Reinke, M. Kolníková, M. Strupp,
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$a OBJECTIVE: To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C (NP-C) disease. METHODS: Twelve patients with NP-C disease were treated with AL 3 g/d for 1 week and then with 5 g/d for 3 weeks with a subsequent washout period of 1 month. The Scale for the Assessment and Rating of Ataxia (SARA), the Spinocerebellar Ataxia Functional Index (SCAFI), the modified Disability Rating Scale (mDRS), EuroQol 5Q-5D-5L, and the visual analog scale (VAS) were administered. Measurements took place at baseline, after 1 month of therapy, and after 1 month of washout. RESULTS: The SARA score changed from the baseline (median [±SD, interquartile range]) of 10.8 (11.2, 8-24.6) to 7.0 (10.7, 5.6-19.6) on medication (difference: 3.8 points) and 10.5 (11.5, 7.1-23.9) after washout (difference: 3.5 points) (p = 0.000412; post hoc p = 0.003 between baseline and on medication, and on medication and washout p = 0.005). The SCAFI subscore 9-Hole Peg Test for dominant hand, mDRS score, and VAS score also improved on medication. No side effects except transient dizziness in one patient were reported. CONCLUSIONS: Treatment with AL improved ataxic symptoms in patients with NP-C without relevant side effects, thus showing a reasonable risk-benefit profile. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that AL improves cerebellar symptoms and quality of life in patients with NP-C.
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$a Malinová, Věra $u From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
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$a Amraoui, Yasmina $u From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia. $7 gn_A_00005754
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$a Mengel, Eugen $u From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
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$a Reinke, Jörg $u From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
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$a Kolníková, Miriam $u From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
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$a Strupp, Michael $u From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
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