ABSTRACT
Las enfermedades raras son aquellas que tienen baja prevalencia y que, por lo tanto, el desarrollo de medicamentos para tratarlas no es rentable para las empresas farmacéuticas debido a la baja demanda. A pesar de que ya se cuenta con diferentes políticas públicas alrededor del mundo para incentivar a las industrias farmacéuticas a investigar estos medicamentos, conocidos como medicamentos huérfanos, su desarrollo conlleva muchas dificultades en las evaluaciones clínicas y el precio final para el público es muy elevado. Si bien en años recientes se ha planteado el uso de tecnología de impresión en 3D para producir estos medicamentos o incluso recurrir a otros medicamentos previamente aprobados para tratar enfermedades raras, existe un historial de mal uso de las legislaciones por parte de las empresas con el fin de generar beneficios comerciales, por lo que estas políticas deben reforzarse para que cumplan su propósito; ayudar a una población muy vulnerable. El objetivo del presente texto es exponer los resultados de una revisión documental sobre el panorama científico y sociopolítico en el que se encuentra el problema de las enfermedades raras y los medicamentos huérfanos, así como las posibles soluciones que se están desplegando para abordarlo. Deriva de un estudio que se desarrolla en el momento actual en la Universidad Autónoma Metropolitana, de Ciudad de México.
The strange illnesses are those that have low prevalence and that, therefore, the development of medications to treat them is not profitable for the pharmaceutical companies due to the drop demands. Although it is already counted with different political public around the world to motivate to the pharmaceutical industries to investigate these medications, well-known as orphan medications, their development bears many difficulties in the clinical evaluations and the final price for the public it is very high. Although in recent years he/she has thought about the use of impression technology in 3D to produce these medications or even to appeal to other medications previously approved to treat strange illnesses, a record of wrong use of the legislations exists on the part of the companies with the purpose of generating commercial benefits, for what these politicians should be reinforced so that they complete its purpose; to help a very vulnerable population. The objective of the present text is to expose the results of a documental revision on the scientific and sociopolitical panorama in which is the problem of the strange illnesses and the orphan medications, as well as the possible solutions that they are spreading to approach it. It derives of a study that is developed in the current moment in the Metropolitan Autonomous University, of Mexico City.
ABSTRACT
Introducción El abordaje terapéutico de las manifestaciones cutáneas de las enfermedades raras es complejo. El objetivo principal de este trabajo consistió en determinar el impacto de la formulación magistral de dispensación hospitalaria en la calidad de vida de los pacientes con genodermatosis. Material y métodos Se diseñó un estudio descriptivo transversal. Se incluyeron pacientes con genodermatosis que recibieron tratamientos tópicos elaborados y dispensados por el Servicio de Farmacia Hospitalaria del Complejo Hospitalario Universitario de Pontevedra. Se recogieron datos demográficos, cuestionarios generales y específicos sobre la calidad de vida, y cuestionarios que evaluaban los tratamientos administrados y la adherencia terapéutica. Resultados Se incluyeron 9 pacientes. Se observó que, tras la terapia con fórmulas magistrales, hubo una reducción estadísticamente significativa del impacto en la calidad de vida de los pacientes. La satisfacción con los productos fue 2,8 sobre 25 (siendo 0 la mejor puntuación). La adherencia terapéutica superó el 89%. Conclusiones La formulación magistral permite el acceso a medicamentos huérfanos y no comercializados para numerosas enfermedades raras. Su impacto en la calidad de vida de los pacientes afectos de estas enfermedades ha sido escasamente estudiado. En la serie de pacientes que se presenta, la elaboración y dispensación hospitalaria de fórmulas magistrales específicas conllevó efectos positivos en su calidad de vida. Este estudio inicial ha derivado en otro trabajo multicéntrico, centrado en las ictiosis, donde previsiblemente aumentará el número de pacientes a incluir y permitirá confirmar nuestros resultados (AU)
Background Cutaneous manifestations are complicated to treat in rare diseases. The main aim of this study was to analyze the impact of compounded drugs prepared by hospital pharmacists on the quality of life of patients with genodermatoses. Material and methods We undertook a cross-sectional study of patients with genodermatoses treated with topical medications compounded and dispensed by the pharmacy at Complejo Hospitalario Universitario in Pontevedra, Spain. We collected demographic data and answers to questionnaires examining generic and disease-specific quality of life, treatment satisfaction, and treatment adherence.Results Nine patients were included. We observed a significant improvement in health-related quality of life following treatment with compounded drugs. Satisfaction with the topical medications was 2.8 on a scale of 0 (greatest satisfaction) to 25. Treatment adherence was 59%. Conclusions Drug compounding facilitates access to orphan drugs that are not available for many rare diseases. Few studies, however, have analyzed impact on quality of life in this setting. In this series of patients with genodermatoses, topical medications compounded and dispensed by a hospital pharmacy improved health-related quality of life. This preliminary study has given rise to a multicenter study of compounding for ichthyosis. We expect that analysis of a larger sample will confirm our findings (AU)
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Young Adult , Adult , Middle Aged , Treatment Adherence and Compliance , Orphan Drug Production , Drugs from the Specialized Component of Pharmaceutical Care , Ichthyosis, Lamellar/drug therapy , Tuberous Sclerosis/drug therapy , Epidermolysis Bullosa/drug therapy , Patient Satisfaction , Cross-Sectional Studies , Quality of LifeABSTRACT
Background Cutaneous manifestations are complicated to treat in rare diseases. The main aim of this study was to analyze the impact of compounded drugs prepared by hospital pharmacists on the quality of life of patients with genodermatoses. Material and methods We undertook a cross-sectional study of patients with genodermatoses treated with topical medications compounded and dispensed by the pharmacy at Complejo Hospitalario Universitario in Pontevedra, Spain. We collected demographic data and answers to questionnaires examining generic and disease-specific quality of life, treatment satisfaction, and treatment adherence.Results Nine patients were included. We observed a significant improvement in health-related quality of life following treatment with compounded drugs. Satisfaction with the topical medications was 2.8 on a scale of 0 (greatest satisfaction) to 25. Treatment adherence was 59%. Conclusions Drug compounding facilitates access to orphan drugs that are not available for many rare diseases. Few studies, however, have analyzed impact on quality of life in this setting. In this series of patients with genodermatoses, topical medications compounded and dispensed by a hospital pharmacy improved health-related quality of life. This preliminary study has given rise to a multicenter study of compounding for ichthyosis. We expect that analysis of a larger sample will confirm our findings (AU)
Introducción El abordaje terapéutico de las manifestaciones cutáneas de las enfermedades raras es complejo. El objetivo principal de este trabajo consistió en determinar el impacto de la formulación magistral de dispensación hospitalaria en la calidad de vida de los pacientes con genodermatosis. Material y métodos Se diseñó un estudio descriptivo transversal. Se incluyeron pacientes con genodermatosis que recibieron tratamientos tópicos elaborados y dispensados por el Servicio de Farmacia Hospitalaria del Complejo Hospitalario Universitario de Pontevedra. Se recogieron datos demográficos, cuestionarios generales y específicos sobre la calidad de vida, y cuestionarios que evaluaban los tratamientos administrados y la adherencia terapéutica. Resultados Se incluyeron 9 pacientes. Se observó que, tras la terapia con fórmulas magistrales, hubo una reducción estadísticamente significativa del impacto en la calidad de vida de los pacientes. La satisfacción con los productos fue 2,8 sobre 25 (siendo 0 la mejor puntuación). La adherencia terapéutica superó el 89%. Conclusiones La formulación magistral permite el acceso a medicamentos huérfanos y no comercializados para numerosas enfermedades raras. Su impacto en la calidad de vida de los pacientes afectos de estas enfermedades ha sido escasamente estudiado. En la serie de pacientes que se presenta, la elaboración y dispensación hospitalaria de fórmulas magistrales específicas conllevó efectos positivos en su calidad de vida. Este estudio inicial ha derivado en otro trabajo multicéntrico, centrado en las ictiosis, donde previsiblemente aumentará el número de pacientes a incluir y permitirá confirmar nuestros resultados (AU)
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Young Adult , Adult , Middle Aged , Treatment Adherence and Compliance , Orphan Drug Production , Drugs from the Specialized Component of Pharmaceutical Care , Ichthyosis, Lamellar/drug therapy , Tuberous Sclerosis/drug therapy , Epidermolysis Bullosa/drug therapy , Patient Satisfaction , Cross-Sectional Studies , Quality of LifeABSTRACT
BACKGROUND: Cutaneous manifestations are complicated to treat in rare diseases. The main aim of this study was to analyze the impact of compounded drugs prepared by hospital pharmacists on the quality of life of patients with genodermatoses. MATERIAL AND METHODS: We undertook a cross-sectional study of patients with genodermatoses treated with topical medications compounded and dispensed by the pharmacy at Complejo Hospitalario Universitario in Pontevedra, Spain. We collected demographic data and answers to questionnaires examining generic and disease-specific quality of life, treatment satisfaction, and treatment adherence. RESULTS: Nine patients were included. We observed a significant improvement in health-related quality of life following treatment with compounded drugs. Satisfaction with the topical medications was 2.8 on a scale of 0 (greatest satisfaction) to 25. Treatment adherence was 59%. CONCLUSIONS: Drug compounding facilitates access to orphan drugs that are not available for many rare diseases. Few studies, however, have analyzed impact on quality of life in this setting. In this series of patients with genodermatoses, topical medications compounded and dispensed by a hospital pharmacy improved health-related quality of life. This preliminary study has given rise to a multicenter study of compounding for ichthyosis. We expect that analysis of a larger sample will confirm our findings.
Subject(s)
Quality of Life , Rare Diseases , Cross-Sectional Studies , Drug Compounding , Humans , PharmacistsABSTRACT
INTRODUCTION: Inborn errors of metabolism are a highly heterogeneous group of orphan diseases. Diet therapy and enzyme and coenzyme replacement are the most frequently used treatment. There are few patients and published studies about inborn errors of metabolism. The main objective of this study was to describe the effectiveness of orphan drugs in inborn errors of metabolism in paediatric patients. MATERIAL AND METHODS: Retrospective descriptive study of 24 months on patients diagnosed with inborn errors of metabolism during childhood and who attended the pharmacy clinic or Day-Care Unit of a 630-bed general hospital. RESULTS: The study included 15 patients with a median age of 17.8 years and were treated with nine different drugs: sapropterin, sodium phenylbutyrate, miglustat, velaglucerase, sebelipase, idursulfase, 5-hydroxytryptophan, succinate, and riboflavin. Seven different inborn errors of metabolism were observed: phenylketonuria, defects of the urea cycle, Gaucher, Nieman-Pick, Hunter's disease, along with acid lipase deficiency, and mitochondrial diseases. Orphan drugs used for the treatment of inborn errors of metabolism accounted for 1.3% of hospital drug costs. Some orphan drugs achieved asymptomatic patients, but others just produced a modest symptomatic improvement. Most patients showed good tolerance to the treatment. CONCLUSIONS: Orphan drugs used in inborn errors of metabolism had an easy to manage toxicity profile, with many disparities in effectiveness. These drugs have a high economic impact. The cost-effectiveness ratio for orphan drugs is a controversial issue due to their high cost and the inconclusive clinical evidence.
Subject(s)
Metabolic Diseases , Metabolism, Inborn Errors , Adolescent , Child , Humans , Metabolism, Inborn Errors/drug therapy , Orphan Drug Production , Rare Diseases/drug therapy , Retrospective StudiesABSTRACT
Introducción: Los errores congénitos del metabolismo son un grupo muy heterogéneo de enfermedades raras. La mayoría se pueden tratar con dieta y sustitución enzimática. Existen pocos pacientes y pocos estudios publicados en estas enfermedades. Por ello, se ha llevado a cabo un estudio con el objetivo de evaluar la efectividad de los medicamentos huérfanos utilizados en errores congénitos del metabolismo de un hospital general de 630 camas. Material y métodos: Estudio descriptivo restrospectivo de 24 meses de duración en un hospital general de 630 camas. Se incluyeron los pacientes diagnosticados durante la infancia de errores congénitos del metabolismo y que acudieron a Hospital de Día o a la consulta de Farmacia.(AU)
Introduction: Inborn errors of metabolism are a highly heterogeneous group of orphan diseases. Diet therapy and enzyme and coenzyme replacement are the most frequently used treatment. There are few patients and published studies about inborn errors of metabolism. The main objective of this study was to describe the effectiveness of orphan drugs in inborn errors of metabolism in paediatric patients. Material and Methods: Retrospective descriptive study of 24 months on patients diagnosed with inborn errors of metabolism during childhood and who attended the pharmacy clinic or Day-Care Unit of a 630-bed general hospital. (AU)
Subject(s)
Humans , Child, Preschool , Child , Pediatrics , Metabolism, Inborn Errors , Orphan Drug ProductionABSTRACT
INTRODUCTION: Inborn errors of metabolism are a highly heterogeneous group of orphan diseases. Diet therapy and enzyme and coenzyme replacement are the most frequently used treatment. There are few patients and published studies about inborn errors of metabolism. The main objective of this study was to describe the effectiveness of orphan drugs in inborn errors of metabolism in paediatric patients. MATERIAL AND METHODS: Retrospective descriptive study of 24 months on patients diagnosed with inborn errors of metabolism during childhood and who attended the pharmacy clinic or Day-Care Unit of a 630-bed general hospital. RESULTS: The study included 15 patients with a median age of 17.8 years and were treated with nine different drugs: sapropterin, sodium phenylbutyrate, miglustat, velaglucerase, sebelipase, idursulfase, 5-hydroxytryptophan, succinate, and riboflavin. Nine different inborn errors of metabolism were observed: phenylketonuria, defects of the urea cycle, Gaucher, Nieman-Pick, Hunter's disease, along with acid lipase deficiency, and mitochondrial diseases. Orphan drugs used for the treatment of inborn errors of metabolism accounted for 1.3% of hospital drug costs. Some orphan drugs achieved asymptomatic patients, but others just produced a modest symptomatic improvement. Most patients showed good tolerance to the treatment. CONCLUSIONS: Orphan drugs used in inborn errors of metabolism had an easy to manage toxicity profile, with many disparities in effectiveness. These drugs have a high economic impact. The cost-effectiveness ratio for orphan drugs is a controversial issue due to their high cost and the inconclusive clinical evidence.
ABSTRACT
Partindo da definição e compreensão dos conceitos relacionados ao medicamento, às doenças raras e à ética, bem como à interface entre esses conceitos no bojo da reflexão do direito sanitário, são detalhadas e discutidas as excepcionalidades das drogas, destinadas a tratar doenças raras, definidas por padrões epidemiológicos nacionais e internacionais, como aquelas que afetam poucos indivíduos, proporcionalmente. Em seguida, examina-se o debate internacional acerca do fornecimento de medicamento pós-estudo, para concluir com a evocação do necessário compromisso ético.
Taking off from a definition and comprehension of concepts related to medication, rare diseases and ethics, as well as the interface of these concepts in the core of reflection on sanitary law, the details and exceptionalities of the orphan drugs, designed to treat rare diseases, defined by domestic and international epidemiological standards as those that proportionally affect few individuals. Below, we examine the international debate concerning the supply of medication post-study, to conclude by evoking the required ethical commitment.
Partiendo de la definición y la comprensión de los conceptos relacionados al medicamento, a las enfermedades raras y a la ética, así como a la interfaz entre estos conceptos en el nudo de la reflexión del Derecho Sanitario, son detalladas y discutidas las excepcionalidades de las drogas, destinadas a tratar enfermedades raras, definidas por patrones epidemiológicos nacionales e internacionales como aquellas que afectan a pocos individuos, proporcionalmente. Posteriormente, se examina el debate internacional a propósito de la provisión de medicamentos post-estudio, para concluir con la evocación del requerido compromiso ético.
