Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America
Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent compromising of tissues and organ malfunction. Although incurable, most types of MPS can be treated with enzyme replacement ther...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300185 |
| _version_ | 1818148869589958656 |
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| author | Martha L. Solano Alejandro Fainboim Juan Politei Gloria L. Porras-Hurtado Ana Maria Martins Carolina F. Moura Souza Felipe Mendez Koch Hernan Amartino Jose Maria Satizábal Dafne D.G. Horovitz Paula F.V. Medeiros Rachel S. Honjo Charles M. Lourenço |
| author_facet | Martha L. Solano Alejandro Fainboim Juan Politei Gloria L. Porras-Hurtado Ana Maria Martins Carolina F. Moura Souza Felipe Mendez Koch Hernan Amartino Jose Maria Satizábal Dafne D.G. Horovitz Paula F.V. Medeiros Rachel S. Honjo Charles M. Lourenço |
| author_sort | Martha L. Solano |
| collection | DOAJ |
| description | Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent compromising of tissues and organ malfunction. Although incurable, most types of MPS can be treated with enzyme replacement therapy (ERT), an approach that has had positive effects on the natural clinical evolution and which impact has been extensively investigated. Unfortunately, to date, there is relatively little data regarding the effects of ERT interruption, especially in Latin America, where such interruption may be frequent due to a variety of issues (for instance, difficulties involving logistics, reimbursement and/or payment withdrawal). Method: A group of medical professionals from Latin America with experience in Genetics, Pediatrics and Neurology held an Advisory Board Meeting in the city of São Paulo, in October 2018, to discuss the issue of ERT interruptions in the region and recommendations to health care professionals on how to deal with these interruptions and better assess the therapeutic effects of ERT. Conclusion: Recommendations provided by the experts may support physicians in dealing with the most common reasons for ERT interruptions in Latin America. Most importantly, recommendations for data collection at specific timepoints (at baseline, throughout the treatment and during the interruption period of ERT and after its resumption) can significantly improve the collection of real world evidence on the effects of ERT and its interruptions, supporting health care professionals and policy makers in the decision making regarding the provision of these therapies for MPS patients. |
| first_indexed | 2024-12-11T12:58:00Z |
| format | Article |
| id | doaj.art-39510fa3b7144e4abecda9ad2130fbf7 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-11T12:58:00Z |
| publishDate | 2020-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-39510fa3b7144e4abecda9ad2130fbf72022-12-22T01:06:32ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-06-0123Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin AmericaMartha L. Solano0Alejandro Fainboim1Juan Politei2Gloria L. Porras-Hurtado3Ana Maria Martins4Carolina F. Moura Souza5Felipe Mendez Koch6Hernan Amartino7Jose Maria Satizábal8Dafne D.G. Horovitz9Paula F.V. Medeiros10Rachel S. Honjo11Charles M. Lourenço12Fundacion Cardioinfantil de Bogota, ColombiaPolivalent Day Hospital, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, ArgentinaLaboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de Enfermedades Neurometabólicas (FESEN), Buenos Aires, ArgentinaClinica Comfamiliar Risaralda, ColombiaReference Center of Metabolic Inborn Errors, Universidade Federal de São Paulo, São Paulo, BrazilMedical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilPediatric Neurology, Puerto Montt Hospital, ChileServicio de Neurología Infantil y Clinica de Mucopolisacaridosis y transtornos relacionados, Hospital Universitario Austral, Buenos Aires, ArgentinaDepartment of Physiological Sciences, School of Basic Sciences, Faculty of Health, Universidad del Valle, Cali, ColombiaMedical Genetics Department, National Institute of Women, Children and Adolescents Health Fernandes Figueira/Fiocruz, Rio de Janeiro, BrazilUnidade Acadêmica de Medicina, Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande, BrazilGenetics Unit, Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, BrazilFaculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, Brazil; Corresponding author at: Centro Universitario Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980 – Ribeirânia, Ribeirão Preto, SP 14096-160, Brazil.Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent compromising of tissues and organ malfunction. Although incurable, most types of MPS can be treated with enzyme replacement therapy (ERT), an approach that has had positive effects on the natural clinical evolution and which impact has been extensively investigated. Unfortunately, to date, there is relatively little data regarding the effects of ERT interruption, especially in Latin America, where such interruption may be frequent due to a variety of issues (for instance, difficulties involving logistics, reimbursement and/or payment withdrawal). Method: A group of medical professionals from Latin America with experience in Genetics, Pediatrics and Neurology held an Advisory Board Meeting in the city of São Paulo, in October 2018, to discuss the issue of ERT interruptions in the region and recommendations to health care professionals on how to deal with these interruptions and better assess the therapeutic effects of ERT. Conclusion: Recommendations provided by the experts may support physicians in dealing with the most common reasons for ERT interruptions in Latin America. Most importantly, recommendations for data collection at specific timepoints (at baseline, throughout the treatment and during the interruption period of ERT and after its resumption) can significantly improve the collection of real world evidence on the effects of ERT and its interruptions, supporting health care professionals and policy makers in the decision making regarding the provision of these therapies for MPS patients.http://www.sciencedirect.com/science/article/pii/S2214426920300185Baseline dataERTCessationInterruptionStorage diseaseFollow-up |
| spellingShingle | Martha L. Solano Alejandro Fainboim Juan Politei Gloria L. Porras-Hurtado Ana Maria Martins Carolina F. Moura Souza Felipe Mendez Koch Hernan Amartino Jose Maria Satizábal Dafne D.G. Horovitz Paula F.V. Medeiros Rachel S. Honjo Charles M. Lourenço Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America Molecular Genetics and Metabolism Reports Baseline data ERT Cessation Interruption Storage disease Follow-up |
| title | Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America |
| title_full | Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America |
| title_fullStr | Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America |
| title_full_unstemmed | Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America |
| title_short | Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America |
| title_sort | enzyme replacement therapy interruption in patients with mucopolysaccharidoses recommendations for distinct scenarios in latin america |
| topic | Baseline data ERT Cessation Interruption Storage disease Follow-up |
| url | http://www.sciencedirect.com/science/article/pii/S2214426920300185 |
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