Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press30110.17650/2222-8721-2018-8-4-19-34LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫEuropean consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experienceЕвропейское соглашение по применению ферментной заместительной терапии у взрослых пациентов с болезнью Помпе: 10-летний опытvan der PloegA. T.
Netherlands

Rotterdam

a.vanderploeg@erasmusmc.nlKruijshaarM. УюKruijshaarM. E.
Netherlands

Rotterdam

ToscanoA.
Italy

Messina

Department of Clinical and Experimental Medicine

Messina

 

LaforetP.
France

Paris

Paris

AngeliniC.
Italy

Venice

Venice

LachmannR. H.
United Kingdom

London

London

Pascual PascualS. I.
Spain

Madrid

RobertsM.
United Kingdom

Salford

RoslerK.
Switzerland

Bern

Bern

StulnigT.
Austria

Vienna

van DoornP. A.
Netherlands

Rotterdam

Van den BerghP.Y. K.
Belgium

Brussels

Brussels

VissingJ.
Denmark

Copenhagen

SchoserB.
Germany

Munich

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical CenterDepartment of Clinical and Experimental Medicine, University of MessinaUniversity of MessinaParis-Est, Referral Center for Neuromuscular Disorders, Pitie-Salpetriere Hospital, Assistance Publique Hopitaux de ParisAngelini Fondazione S. Camillo Hospital, IRCCSFondazione S. Camillo Hospital, IRCCSCharles Dent Metabolic Unit, National Hospital for Neurology and NeurosurgeryServicio de Neuropediatria, Hospital Universitario La PazDepartment of Paediatrics, Universidad Autonoma de MadridDepartment of Neurology, Salford Royal NHS Foundation TrustSalfordNeuromuscular Centre, University Department of Neurology, InselspitalDepartment of Medicine III, Medical University of ViennaDepartment of Neurology, Erasmus MC University Medical CenterDepartment of Neurology, Neuromuscular Reference Centre, University Hospitals St-LucCopenhagen Neuromuscular Center, Rigshospitalet, University of CopenhagenFriedrich-Baur-Institute, Ludwig-Maximilians-University120120198419341101201911012019Copyright ©; 2019, 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.Copyright ©; 2019, 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.2019van 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.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.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/301

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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.

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