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Нервно-мышечные болезни

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Европейское соглашение по применению ферментной заместительной терапии у взрослых пациентов с болезнью Помпе: 10-летний опыт

https://doi.org/10.17650/2222-8721-2018-8-4-19-34

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Аннотация

Реферативный перевод из: van der Ploeg A. T., Kruijshaar M. E., Toscano A. et al. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol 2017;4(6):768-e31. DOI: 10.1200/JCO.2016.71.6472.

Перевод: Сергей Сергеевич Никитин 


Введение. Болезнь Помпе – редкое наследственное мышечное заболевание, для лечения которого с 2006 г. применяют ферментную заместительную терапию. В документе представлены последние рекомендации по началу и прекращению ферментной заместительной терапии у взрослых пациентов.

Методы. В ходе Европейского консорциума по болезни Помпе эксперты из 11 европейских стран обсудили данные литературы об эффективности ферментной заместительной терапии у взрослых пациентов на основании оценки показателей прогноза клинического течения и качества жизни больных. В данной статье представлены результаты обсуждений 3 согласительных совещаний во время консорциума.

Результаты. Специалисты пришли к соглашению относительно подтверждения диагноза болезни Помпе, сроков начала ферментной заместительной терапии, показаний и условий ее прекращения и применения во время беременности. Общее соглашение по перечисленным вопросам принято на основании мнения экспертов и подтверждено данными литературы. При проведении исследований в группах были получены данные о положительном эффекте ферментной заместительной терапии. Анализ проводили при оценке 586 взрослых пациентов из 1 клинического испытания и 43 наблюдательных исследований. Обратили внимание на индивидуальные различия в эффективности лечения, обнаруженные в отдельных сообщениях. В 11 наблюдательных исследованиях, включающих пациентов с тяжелой степенью поражения, также была доказана эффективность ферментной заместительной терапии. Исследования эффектов лечения у больных на доклинической стадии заболевания отсутствуют.

Выводы. В ходе 1-го Европейского консорциума на основании международного экспертного мнения составлены рекомендации по началу и прекращению ферментной заместительной терапии у взрослых пациентов с болезнью Помпе.

Об авторах

A. T. van der Ploeg
Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center
Нидерланды
Rotterdam


M. E. Kruijshaar
Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center
Нидерланды
Rotterdam


A. Toscano
University of Messina
Италия

Department of Clinical and Experimental Medicine

Messina

 



P. Laforet
Paris-Est, Referral Center for Neuromuscular Disorders, Pitie-Salpetriere Hospital, Assistance Publique Hopitaux de Paris
Франция
Paris


C. Angelini
Fondazione S. Camillo Hospital, IRCCS
Италия
Venice


R. H. Lachmann
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery
Великобритания
London


S. I. Pascual Pascual
Servicio de Neuropediatria, Hospital Universitario La Paz; Department of Paediatrics, Universidad Autonoma de Madrid
Испания
Madrid


M. Roberts
Department of Neurology, Salford Royal NHS Foundation Trust
Великобритания
Salford


K. Rosler
Neuromuscular Centre, University Department of Neurology, Inselspital
Швейцария
Bern


T. Stulnig
Department of Medicine III, Medical University of Vienna
Австрия
Vienna


P. A. van Doorn
Department of Neurology, Erasmus MC University Medical Center
Нидерланды
Rotterdam


P.Y. K. Van den Bergh
Department of Neurology, Neuromuscular Reference Centre, University Hospitals St-Luc
Бельгия
Brussels


J. Vissing
Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen
Дания
Copenhagen


B. Schoser
Friedrich-Baur-Institute, Ludwig-Maximilians-University
Германия
Munich


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Для цитирования:


van der Ploeg A.T., Kruijshaar M.E., Toscano A., Laforet P., Angelini C., Lachmann R.H., Pascual Pascual S.I., Roberts M., Rosler K., Stulnig T., van Doorn P.A., Van den Bergh P., Vissing J., Schoser B. Европейское соглашение по применению ферментной заместительной терапии у взрослых пациентов с болезнью Помпе: 10-летний опыт. Нервно-мышечные болезни. 2018;8(4):19-34. https://doi.org/10.17650/2222-8721-2018-8-4-19-34

For citation:


van der Ploeg A.T., Kruijshaar M.У., Toscano A., Laforet P., Angelini C., Lachmann R.H., Pascual Pascual S.I., Roberts M., Rosler K., Stulnig T., van Doorn P.A., Van den Bergh P., Vissing J., Schoser B. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Neuromuscular Diseases. 2018;8(4):19-34. (In Russ.) https://doi.org/10.17650/2222-8721-2018-8-4-19-34

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