90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

L. Merlini; B. Estournet-Mathiaud; S. Iannaccone; J. Melki; F. Muntoni; S. Rudnik-Schöneborn; H. Topaloǧlu; G. Vita; T. Voit

doi:10.1016/S0960-8966(01)00272-3

90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

L. Merlini, B. Estournet-Mathiaud, S. Iannaccone, J. Melki, F. Muntoni, S. Rudnik-Schöneborn, H. Topaloǧlu, G. Vita, T. Voit

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Original language	English (US)
Pages (from-to)	201-210
Number of pages	10
Journal	Neuromuscular Disorders
Volume	12
Issue number	2
DOIs	https://doi.org/10.1016/S0960-8966(01)00272-3
State	Published - 2002

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Clinical Neurology
Genetics(clinical)

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10.1016/S0960-8966(01)00272-3

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Merlini, L., Estournet-Mathiaud, B., Iannaccone, S., Melki, J., Muntoni, F., Rudnik-Schöneborn, S., Topaloǧlu, H., Vita, G., & Voit, T. (2002). 90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands. Neuromuscular Disorders, 12(2), 201-210. https://doi.org/10.1016/S0960-8966(01)00272-3

Merlini, L, Estournet-Mathiaud, B, Iannaccone, S, Melki, J, Muntoni, F, Rudnik-Schöneborn, S, Topaloǧlu, H, Vita, G & Voit, T 2002, '90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands', Neuromuscular Disorders, vol. 12, no. 2, pp. 201-210. https://doi.org/10.1016/S0960-8966(01)00272-3

@article{6c341d4601de40bc887f2cd1b6b58d05,

title = "90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands",

author = "L. Merlini and B. Estournet-Mathiaud and S. Iannaccone and J. Melki and F. Muntoni and S. Rudnik-Sch{\"o}neborn and H. Topaloǧlu and G. Vita and T. Voit",

note = "Funding Information: The workshop was made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors: – Association Francaise contre les Myopathies (France); Deutsche Gesellschaft fur Muskelkranke (Germany); Telethon Foundation (Italy); Muscular Dystrophy Campaign (UK); Muskelsvindfonden (Denmark); Princes Beatrix Fonds (The Netherlands); Schweizerische Stiftung fur die Erforschung der Musckelkrankheiten (Switzerland); Verein zur Erforschung von Muskelkrankheiten bei Kindern (Austria); Vereniging Spierziekten Nederland (The Netherlands) and ENMC associate member, Muscular Dystrophy Association of Finland. We are grateful to Professor Victor Dubowitz for his scientific help, and to Mr Michael Rutgers for the organizational assistance of the ENMC. Funding Information: Susan Iannaccone (USA) presented the recently NIH funded American Spinal Muscular Atrophy Randomised Trial (AmSMART) project. The first goal of this project was to organize a multicenter clinical investigation in children with SMA. The AmSMART group is an organization of five paediatric medical centres formed in order to perform clinical trials in children with SMA. The Coordinating Centre is Dallas, where the Principal Investigator, the Project Coordinator, two physical therapist evaluators, the pharmacy and the Data Management and Statistics Centre are located. The Grants Management Office of UT Southwestern Medical Centre (UTSW) administers the grant, while patient enrolment occurs at the five paediatric centres with which UTSW has consortium agreements. Each participating centre other than Dallas has a paediatric neurologist as sub-investigator, a physical therapist evaluator, and a nurse coordinator. Each paediatric centre has been supplied with the same equipment. The second goal was to devise reliable methods to measure strength, motor function, lung function, and quality of life, all of which may be used as outcome measures in children with SMA [27] . The development of objective and quantitative parameters for evaluation of patients will be necessary for judging therapeutic effectiveness. The QMT will be used for measuring muscle strength. The Gross Motor Function Measure will be used for motor function assessment. Lung function will be measured using forced vital capacity, maximum inspiratory and expiratory pressures, and peak cough flow. Quality of life will be evaluated with the Paediatric Quality of Life Instrument. Each method will be tested for reliability in SMA children and modified as needed to provide accurate results in this population. The final goal was to determine whether administration of creatine to children with SMA is safe, and whether it might improve muscle strength, motor function, or lung volumes. Creatine has been shown to improve strength in a transgenic animal model of motor neuron disease as well as in patients with motor neuron disease. Creatine will be given in a placebo-controlled blind trial. This pilot project will be an important step toward the ultimate goal of finding an effective treatment for SMA by offering a group of highly experienced investigators an opportunity to refine methods of strength testing and other outcome measures for evaluating children with SMA. It will provide a framework for developing mechanisms whereby therapies may be tested efficiently and economically in SMA children. The prevalence and severe nature of this disease are compelling motives for attempting such work. ",

year = "2002",

doi = "10.1016/S0960-8966(01)00272-3",

language = "English (US)",

volume = "12",

pages = "201--210",

journal = "Neuromuscular Disorders",

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T1 - 90th ENMC International Workshop

T2 - European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

AU - Merlini, L.

AU - Estournet-Mathiaud, B.

AU - Iannaccone, S.

AU - Melki, J.

AU - Muntoni, F.

AU - Rudnik-Schöneborn, S.

AU - Topaloǧlu, H.

AU - Vita, G.

AU - Voit, T.

N1 - Funding Information: The workshop was made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors: – Association Francaise contre les Myopathies (France); Deutsche Gesellschaft fur Muskelkranke (Germany); Telethon Foundation (Italy); Muscular Dystrophy Campaign (UK); Muskelsvindfonden (Denmark); Princes Beatrix Fonds (The Netherlands); Schweizerische Stiftung fur die Erforschung der Musckelkrankheiten (Switzerland); Verein zur Erforschung von Muskelkrankheiten bei Kindern (Austria); Vereniging Spierziekten Nederland (The Netherlands) and ENMC associate member, Muscular Dystrophy Association of Finland. We are grateful to Professor Victor Dubowitz for his scientific help, and to Mr Michael Rutgers for the organizational assistance of the ENMC. Funding Information: Susan Iannaccone (USA) presented the recently NIH funded American Spinal Muscular Atrophy Randomised Trial (AmSMART) project. The first goal of this project was to organize a multicenter clinical investigation in children with SMA. The AmSMART group is an organization of five paediatric medical centres formed in order to perform clinical trials in children with SMA. The Coordinating Centre is Dallas, where the Principal Investigator, the Project Coordinator, two physical therapist evaluators, the pharmacy and the Data Management and Statistics Centre are located. The Grants Management Office of UT Southwestern Medical Centre (UTSW) administers the grant, while patient enrolment occurs at the five paediatric centres with which UTSW has consortium agreements. Each participating centre other than Dallas has a paediatric neurologist as sub-investigator, a physical therapist evaluator, and a nurse coordinator. Each paediatric centre has been supplied with the same equipment. The second goal was to devise reliable methods to measure strength, motor function, lung function, and quality of life, all of which may be used as outcome measures in children with SMA [27] . The development of objective and quantitative parameters for evaluation of patients will be necessary for judging therapeutic effectiveness. The QMT will be used for measuring muscle strength. The Gross Motor Function Measure will be used for motor function assessment. Lung function will be measured using forced vital capacity, maximum inspiratory and expiratory pressures, and peak cough flow. Quality of life will be evaluated with the Paediatric Quality of Life Instrument. Each method will be tested for reliability in SMA children and modified as needed to provide accurate results in this population. The final goal was to determine whether administration of creatine to children with SMA is safe, and whether it might improve muscle strength, motor function, or lung volumes. Creatine has been shown to improve strength in a transgenic animal model of motor neuron disease as well as in patients with motor neuron disease. Creatine will be given in a placebo-controlled blind trial. This pilot project will be an important step toward the ultimate goal of finding an effective treatment for SMA by offering a group of highly experienced investigators an opportunity to refine methods of strength testing and other outcome measures for evaluating children with SMA. It will provide a framework for developing mechanisms whereby therapies may be tested efficiently and economically in SMA children. The prevalence and severe nature of this disease are compelling motives for attempting such work.

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90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

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