Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic conditio...
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ir-2011-51422023-11-21T16:31:23Z Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: Recommendations from a group of Brazilian F experts GIUGLIANI, Roberto FEDERHEN, Andressa MUÑOZ ROJAS, Maria Verónica VIEIRA, Taiane Alves ARTIGALÁS, Osvaldo Alfonso Pinto PINTO, Louise Lapagesse de Carmargo AZEVEDO, Ana Cecília Medeiros Mano ACOSTA, Angelina Xavier BOMFIM, Carmem LOURENÇO, Charles Marques KIM, Chong Ae HOROVITZ, Dafne Dain Gandelman SOUZA, Denize Bomfim NORATO, Denise Yvonne Janovitz MARINHO, Diane Ruschel PALHARES, Durval Batista SANTOS, Emerson Santana RIBEIRO, Erlane Marques VALADARES, Eugênia Ribeiro GUARANY, Fábio Coelho LUCCA, Gisele Rosone de PIMENTEL, Helena SOUZA, Isabel Cristina Neves de CORRÊA NETO, Jordão FRAGA, José Carlos GÓES, José Eduardo Coutinho CABRAL, José Maria SIMIONATO, José LLERENA JUNIOR, Juan Clinton JARDIM, Laura Bannach GIULIANI, Liane de Rosso SILVA, Luiz Carlos Santana da SANTOS, Mara Lucia Schmitz Ferreira MOREIRA, Maria Ângela KERSTENETZKY, Marcelo Soares RIBEIRO, Márcia Gonçalves GUARANY, Nicole Ruas BARRIOS, Patricia Martins Moura ARANDA, Paulo Cesar HONJO, Rachel Sayuri SILVA, Raquel Tavares Boy da COSTA, Ronaldo SOUZA, Carolina Fischinger Moura de ALCANTARA, Flavio Ferraz de Paes e AVILLA, Sylvio Gilberto Andrade FAGONDES, Simone Chaves MARTINS, Ana Maria Terapia de reposição enzimática Mucopolissacaridoses Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified. Before introduction of therapies to restore deficient enzyme activity, treatment of MPS focused primnarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80's treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90's, enzyme replacement therapy (ERT),began to be developed and was approved for clinical use in MPS I, II and VI in the first decade of the 21st century. The authors of this paper are convinced that a better future for patients affected by mucopolysaccharidoses depends upon identifying, understanding and appropriately managing the multisystemic manifestations of these diseases. This includes the provision of support measures (which should be part of regular multidisciplinary care of these patients) and of specific therapies. Although inhibition of synthesis of GAG and the recovery of enzyme activity with small molecules also may play a role in the management of MPS, the breakthrough is the currently available intravenous ERT. ERT radically changed the setting for treatment of mucopolysaccharidosis I, II and VI in the last decade., Benefits can even be extended soon to MPS IV A (ERT for this condition is already in clinical development), with prediction for treatment of MPS III A and the cognitive deficit in MPS II by administration of the enzyme directly into the central nervous system (CNS). A large number of Brazilian services, from all regions of the country, already have experience with ERT for MPS I, II and VI. This experience was gained not only by treating patients but also with the participation of some groups in clinical trials involving ERT for these conditions. Summing up the three types of MPS, more than 250 patients have already been treated with ERT in Brazil. The experience of professionals coupled to the data available in international literature, allowed us to elaborate this document, produced with the goal of bringing together and harmonize the information available for the treatment of these severe and progressive diseases, which, fortunately, are now treatable, a situation which bring new perspectives for Brazilian patients, affected by these conditions. As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetados pelas MPS resulta em uma série de sinais e sintomas, integrantes de um quadro clínico multissistêmico que compromete ossos e articulações, vias respiratórias, sistema cardiovascular e muitos outros órgãos e tecidos, incluindo, em alguns casos, as funções cognitivas. Já foram identificados 11 defeitos enzimáticos que causam sete tipos diferentes de MPS. Antes do advento de terapias dirigidas para a restauração da atividade da enzima deficiente, o tratamento das MPS tinha como principal foco a prevenção e o cuidado das complicações, aspecto ainda bastante importante no manejo desses pacientes. Na década de 80 foi proposto o tratamento das MPS com transplante de medula óssea/transplante de células tronco hematopoiéticas (TMO/TCTH) e na década de 90 começou o desenvolvimento da Terapia de Reposição Enzimática (TRE), que se tornou uma realidade aprovada para uso clínico nas MPS I, II e VI na primeira década do século 21. Os autores deste trabalho têm a convicção de que um melhor futuro para os pacientes afetados pelas MPS depende da identificação, compreensão e manejo adequado das manifestações multissistêmicas dessas doenças, incluindo medidas de suporte (que devem fazer parte da assistência multidisciplinar regular destes pacientes) e terapias específicas. Embora a inibição da síntese de GAG e o resgate da atividade enzimática com moléculas pequenas também possam vir a ter um papel no manejo das MPS, o grande avanço disponível no momento é a TRE intravenosa. A TRE permitiu modificar radicalmente o panorama do tratamento das mucopolissacaridoses I, II e VI na última década, sendo que ainda pode estender seus benefícios em breve para a MPS IV A (cuja TRE já está em desenvolvimento clínico), com perspectivas para o tratamento da MPS III A e do déficit cognitivo na MPS II através de administração da enzima diretamente no sistema nervoso central (SNC). Um grande número de centros brasileiros, incluindo serviços de todas as regiões do país, já têm experiência com TRE para MPS I, II e VI. Essa experiência foi adquirida não só com o tratamento de pacientes como também com a participação de alguns grupos em ensaios clínicos envolvendo TRE para essas condições. Somados os três tipos de MPS, mais de 250 pacientes já foram tratados com TRE em nosso país. A experiência dos profissionais brasileiros, somada aos dados disponíveis na literatura internacional, permitiu elaborar este documento, produzido com o objetivo de reunir e harmonizar as informações disponíveis sobre o tratamento destas doenças graves e progressivas, mas que, felizmente, são hoje tratáveis, uma realidade que traz novas perspectivas para os pacientes brasileiros afetados por essas condições. 2014-06-25T17:10:40Z 2014-06-25T17:10:40Z 2010 Artigo de Periódico GIUGLIANI, Roberto et al. Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros. Revista da Associação Médica Brasileira, São Paulo, v. 56, n. 3, p. 271-277, 2010. Disponível em: <http://www.scielo.br/pdf/ramb/v56n3/v56n3a09.pdf>. Acesso em: 13 fev. 2014. <http://dx.doi.org/10.1590/S0104-42302010000300009>. 0104-4230 http://repositorio.ufpa.br/jspui/handle/2011/5142 por Acesso Aberto application/pdf |
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Repositório Institucional - Universidade Federal do Pará |
| collection |
RI-UFPA |
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por |
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Terapia de reposição enzimática Mucopolissacaridoses |
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Terapia de reposição enzimática Mucopolissacaridoses GIUGLIANI, Roberto Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros |
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Terapia de reposição enzimática Mucopolissacaridoses |
| description |
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified. Before introduction of therapies to restore deficient enzyme activity, treatment of MPS focused primnarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80's treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90's, enzyme replacement therapy (ERT),began to be developed and was approved for clinical use in MPS I, II and VI in the first decade of the 21st century. The authors of this paper are convinced that a better future for patients affected by mucopolysaccharidoses depends upon identifying, understanding and appropriately managing the multisystemic manifestations of these diseases. This includes the provision of support measures (which should be part of regular multidisciplinary care of these patients) and of specific therapies. Although inhibition of synthesis of GAG and the recovery of enzyme activity with small molecules also may play a role in the management of MPS, the breakthrough is the currently available intravenous ERT. ERT radically changed the setting for treatment of mucopolysaccharidosis I, II and VI in the last decade., Benefits can even be extended soon to MPS IV A (ERT for this condition is already in clinical development), with prediction for treatment of MPS III A and the cognitive deficit in MPS II by administration of the enzyme directly into the central nervous system (CNS). A large number of Brazilian services, from all regions of the country, already have experience with ERT for MPS I, II and VI. This experience was gained not only by treating patients but also with the participation of some groups in clinical trials involving ERT for these conditions. Summing up the three types of MPS, more than 250 patients have already been treated with ERT in Brazil. The experience of professionals coupled to the data available in international literature, allowed us to elaborate this document, produced with the goal of bringing together and harmonize the information available for the treatment of these severe and progressive diseases, which, fortunately, are now treatable, a situation which bring new perspectives for Brazilian patients, affected by these conditions. |
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Artigo |
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GIUGLIANI, Roberto |
| author2 |
FEDERHEN, Andressa MUÑOZ ROJAS, Maria Verónica VIEIRA, Taiane Alves ARTIGALÁS, Osvaldo Alfonso Pinto PINTO, Louise Lapagesse de Carmargo AZEVEDO, Ana Cecília Medeiros Mano ACOSTA, Angelina Xavier BOMFIM, Carmem LOURENÇO, Charles Marques KIM, Chong Ae HOROVITZ, Dafne Dain Gandelman SOUZA, Denize Bomfim NORATO, Denise Yvonne Janovitz MARINHO, Diane Ruschel PALHARES, Durval Batista SANTOS, Emerson Santana RIBEIRO, Erlane Marques VALADARES, Eugênia Ribeiro GUARANY, Fábio Coelho LUCCA, Gisele Rosone de PIMENTEL, Helena SOUZA, Isabel Cristina Neves de CORRÊA NETO, Jordão FRAGA, José Carlos GÓES, José Eduardo Coutinho CABRAL, José Maria SIMIONATO, José LLERENA JUNIOR, Juan Clinton JARDIM, Laura Bannach GIULIANI, Liane de Rosso SILVA, Luiz Carlos Santana da SANTOS, Mara Lucia Schmitz Ferreira MOREIRA, Maria Ângela KERSTENETZKY, Marcelo Soares RIBEIRO, Márcia Gonçalves GUARANY, Nicole Ruas BARRIOS, Patricia Martins Moura ARANDA, Paulo Cesar HONJO, Rachel Sayuri SILVA, Raquel Tavares Boy da COSTA, Ronaldo SOUZA, Carolina Fischinger Moura de ALCANTARA, Flavio Ferraz de Paes e AVILLA, Sylvio Gilberto Andrade FAGONDES, Simone Chaves MARTINS, Ana Maria |
| author2Str |
FEDERHEN, Andressa MUÑOZ ROJAS, Maria Verónica VIEIRA, Taiane Alves ARTIGALÁS, Osvaldo Alfonso Pinto PINTO, Louise Lapagesse de Carmargo AZEVEDO, Ana Cecília Medeiros Mano ACOSTA, Angelina Xavier BOMFIM, Carmem LOURENÇO, Charles Marques KIM, Chong Ae HOROVITZ, Dafne Dain Gandelman SOUZA, Denize Bomfim NORATO, Denise Yvonne Janovitz MARINHO, Diane Ruschel PALHARES, Durval Batista SANTOS, Emerson Santana RIBEIRO, Erlane Marques VALADARES, Eugênia Ribeiro GUARANY, Fábio Coelho LUCCA, Gisele Rosone de PIMENTEL, Helena SOUZA, Isabel Cristina Neves de CORRÊA NETO, Jordão FRAGA, José Carlos GÓES, José Eduardo Coutinho CABRAL, José Maria SIMIONATO, José LLERENA JUNIOR, Juan Clinton JARDIM, Laura Bannach GIULIANI, Liane de Rosso SILVA, Luiz Carlos Santana da SANTOS, Mara Lucia Schmitz Ferreira MOREIRA, Maria Ângela KERSTENETZKY, Marcelo Soares RIBEIRO, Márcia Gonçalves GUARANY, Nicole Ruas BARRIOS, Patricia Martins Moura ARANDA, Paulo Cesar HONJO, Rachel Sayuri SILVA, Raquel Tavares Boy da COSTA, Ronaldo SOUZA, Carolina Fischinger Moura de ALCANTARA, Flavio Ferraz de Paes e AVILLA, Sylvio Gilberto Andrade FAGONDES, Simone Chaves MARTINS, Ana Maria |
| title |
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros |
| title_short |
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros |
| title_full |
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros |
| title_fullStr |
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros |
| title_full_unstemmed |
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros |
| title_sort |
terapia de reposição enzimática para as mucopolissacaridoses i, ii e vi: recomendações de um grupo de especialistas brasileiros |
| publishDate |
2014 |
| url |
http://repositorio.ufpa.br/jspui/handle/2011/5142 |
| _version_ |
1787147865719570432 |
| score |
11.653393 |