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14. Prevalence of Paget's disease of bone in Spain

Author

Guañabens, Núria, Garrido, Jesús, Gobbo, Milena, Morales Piga, Antonio, del Pino, Javier, Torrijos, Antonio, Descalzo, Miguel Ángel, Javier Blanco García, Francisco, Rodríguez Cros, José Ramón, Carbonell, Jordi, Rodríguez Pérez, Manuel, Tornero, Jesús, and Carmona, Loreto

Published
2008
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17. Development of Macrocycle Kinase Inhibitors for ALK2 Using Fibrodysplasia Ossificans Progressiva‐Derived Endothelial Cells

Author

Sánchez‐Duffhues, Gonzalo, primary, Williams, Eleanor, additional, Benderitter, Pascal, additional, Orlova, Valeria, additional, Wijhe, Michiel, additional, Garcia de Vinuesa, Amaya, additional, Kerr, Georgina, additional, Caradec, Josselin, additional, Lodder, Kirsten, additional, Boer, Hetty C., additional, Goumans, Marie‐José, additional, Eekhoff, Elisabeth M W, additional, Morales‐Piga, Antonio, additional, Bachiller‐Corral, Javier, additional, Koolwijk, Pieter, additional, Bullock, Alex N., additional, Hoflack, Jan, additional, and Dijke, Peter, additional

Published
2019
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23. Recomendaciones sobre los aspectos éticos de los programas de cribado de población para enfermedades raras

Author

Pàmpols Ros, Teresa, Terracini, Benedetto, Abajo Iglesias, Francisco J. de, Feito Grande, Lydia, Martín-Arribas, Mª Concepción, Fernández Soria, José María, Redondo Martín del Olmo, Tomás, Campos Castelló, Jaime, Herrera Carranza, Joaquín, Júdez Gutiérrez, Javier, Abascal Alonso, Moisés, and Morales Piga, Antonio

Subjects
Ethics, Genetic testing, Ethics clinical, Enfermedades raras, Salud pública, Ética clínica, Mass Screening, Cribado neonatal, Programas de cribado, Neonatal screening, Bioética, Rare diseases
Abstract

El Comité de Ética del Instituto de Investigación de Enfermedades Raras (CEIIER) del Instituto de Salud Carlos III, dentro de las actividades que desarrolla, ha preparado el presente documento de recomendaciones éticas con respecto a la puesta en marcha de programas de cribado de población, con especial referencia a los cribados genéticos. Basándose en una revisión crítica se han elaborado 24 recomendaciones concernientes a 14 apartados que inciden principalmente en los siguientes puntos: la evaluación de la pertinencia del programa, incorporando al proceso el análisis ético, de las evidencias científicas y de la oportunidad de los costes; la necesidad de diferenciar entre investigación e intervención y de que el programa sea específico e integral; la creación de un grupo de trabajo interdisciplinar que controle su desarrollo y elabore un protocolo de programa que incluya su justificación, desarrollo y ejecución incluyendo las actividades terapéuticas o preventivas y actividades de seguimiento; la revisión necesaria del programa por un Comité de Ética independiente; la garantía de acceso voluntario, universal y equitativo que requiere de la información sobre el programa y hechos específicos si los hubiera, como la detección accidental del estado heterocigoto en menores en los programas de cribado neonatal y las necesidades de consejo genético; la consideración del uso futuro de las muestras remanentes; la calidad total y evaluación periódica del programa; las garantías de confidencialidad de los datos de carácter personal; la declaración de conflictos de intereses de los miembros de los Comités implicados en el programa. The Committee on Ethics of the Instituto de Investigación de Enfermedades Raras (CEIIER) of the Spanish National Institute of Health Carlos III, presents this article dealing with ethical guidelines regarding the implementation of screening population programmes with special emphasis on genetic screening. After a critical review it has been addressed 24 recommendations concerning 14 topics: evaluation of the opportunity of the programme, including ethical analysis besides scientific evidences and cost/benefits issues; the need to differentiate between research and public health intervention and to built a specific and comprehensive programme; the creation of an interdisciplinary working group which control its implementation and prepare a protocol including justification, development, therapeutic or preventive actions and follow-up activities; the review of the programme by an independent Ethical committee; the guarantee of the voluntary, universal and equitable population access, which requires sufficient information on the programme and their specific relevant facts, as incidental detection of heterozygous state in minors in newborn screening and the relevance of non directive genetic counselling specially in prenatal screening offered to pregnant women; considerations regarding future uses of samples for research purposes; total quality and periodic programme evaluation; guarantee of personal data confidentiality and the conflict of interest statement of the members of all the Committees involved in the programme.

Published
2010

26. Recomendaciones sobre los aspectos éticos de los programas de cribado de población para enfermedades raras

Author

Terracini, Benedetto, Abajo Iglesias, Francisco José de, Martín Arribas, María Concepción, Pàmpols Ros, Teresa, Feito Grande, Lydia, Abascal Alonso, Moisés, Morales Piga, Antonio, Fernández Soria, José María, Redondo Martín del Olmo, Tomás, Campos Castelló, Jaime, Herrera Carranza, Joaquín, Júdez Gutiérrez, Francisco Javier, Terracini, Benedetto, Abajo Iglesias, Francisco José de, Martín Arribas, María Concepción, Pàmpols Ros, Teresa, Feito Grande, Lydia, Abascal Alonso, Moisés, Morales Piga, Antonio, Fernández Soria, José María, Redondo Martín del Olmo, Tomás, Campos Castelló, Jaime, Herrera Carranza, Joaquín, and Júdez Gutiérrez, Francisco Javier

Abstract

El Comité de Ética del Instituto de Investigación de Enfermedades Raras (CEIIER) del Instituto de Salud Carlos III, dentro de las actividades que desarrolla, ha preparado el presente documento de recomendaciones éticas con respecto a la puesta en marcha de programas de cribado de población, con especial referencia a los cribados genéticos. Basándose en una revisión crítica se han elaborado 24 recomendaciones concernientes a 14 apartados que inciden principalmente en los siguientes puntos: la evaluación de la pertinencia del programa, incorporando al proceso el análisis ético, de las evidencias científicas y de la oportunidad de los costes; la necesidad de diferenciar entre investigación e intervención y de que el programa sea específico e integral; la creación de un grupo de trabajo interdisciplinar que controle su desarrollo y elabore un protocolo de programa que incluya su justificación, desarrollo y ejecución incluyendo las actividades terapéuticas o preventivas y actividades de seguimiento; la revisión necesaria del programa por un Comité de Ética independiente; la garantía de acceso voluntario, universal y equitativo que requiere de la información sobre el programa y hechos específicos si los hubiera, como la detección accidental del estado heterocigoto en menores en los programas de cribado neonatal y las necesidades de consejo genético; la consideración del uso futuro de las muestras remanentes; la calidad total y evaluación periódica del programa; las garantías de confidencialidad de los datos de carácter personal; la declaración de conflictos de intereses de los miembros de los Comités implicados en el programa.

Published
2010

27. Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns.

Author

Sánchez-Díaz, Germán, arias-Merino, Greta, Villaverde-Hueso, ana, Morales-Piga, antonio, abaitua-Borda, Ignacio, Hens, Manuel, Bermejo-Sánchez, Eva, Posada de la Paz, Manuel, and alonso-Ferreira, Verónica

Abstract

Background: Huntington's disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of this study is to assess temporal and spatial changes on mortality attributable to HD over 30 years in Spain. Methods: HD data were extracted from the nationwide mortality registry for the period 1984-2013. Annual and 5-year gender- and age-specific rates adjusted for the standard European population were calculated. Geographic analysis was performed by districts from 1999 through 2013, and then estimated standardized mortality ratios (SMRs) and smoothed SMRs. Results: There were 1,556 HD-related deaths across the study period. An increasing trend in ageadjusted HD mortality was in evidence, specifically from 1994 through 1998. On a year-by-year basis, age-adjusted mortality rates increased from 0.076 per 100,000 population in 1984 to 0.157 in 2013. Geographical differences among districts were evident in specific areas and in the southwest of Spain with a significantly higher HD mortality risk. Conclusion: HD mortality rising trends in Spain might be attributable to improvements in diagnosis leading to a rise in prevalence. Geographical variability in HD mortality could be related to regional differences in disease prevalence, health-care disparities, or other factors which call for in-depth assessment in future studies. [ABSTRACT FROM AUTHOR]

Published
2017
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33. Recomendaciones sobre los aspectos éticos de los programas de cribado de población para enfermedades raras

Author

Pàmpols Ros, Teresa, primary, Terracini, Benedetto, additional, Abajo Iglesias, Francisco J. de, additional, Feito Grande, Lydia, additional, Martín-Arribas, Mª Concepción, additional, Fernández Soria, José María, additional, Redondo Martín del Olmo, Tomás, additional, Campos Castelló, Jaime, additional, Herrera Carranza, Joaquín, additional, Júdez Gutiérrez, Javier, additional, Abascal Alonso, Moisés, additional, and Morales Piga, Antonio, additional

Published
2010
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34. Osteochondral Diseases and Fibrodysplasia Ossificans Progressiva.

Author

Morales-Piga, Antonio and Kaplan, Frederick S.

Abstract

Osteochondrodysplasias like thanatophoric dysplasia, osteogenesis imperfecta, achondroplasia, and other genetic skeletal disorders like fibrodysplasia ossificans progressiva are infrequently seen in clinical practice. In cases of sporadic achondroplasia as well as in fibrodysplasia ossificans progressiva, there is a strong association with paternal age, a relationship that is less evident in other genetic osteochondral diseases. No other constitutional or environmental factor has proven to be associated with these disorders. The use of prenatal ultrasonography as a routine component of prenatal care is crucial in the early suspicion of osteochondrodysplasias whereas definitive diagnosis is usually obtained by pre-natal molecular analysis. In the case of fibrodysplasia ossificans progressiva, recognition of congenital great toe malformations associated with rapidly–appearing soft tissue swelling is sufficient to make the proper clinical diagnosis, which can be confirmed by genetic testing. Large regional centres will improve diagnosis performance, provide accurate genetic counselling, and ensure an integral assistance for these often severe and incapacitating conditions. [ABSTRACT FROM AUTHOR]

Published
2010
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40. [The ethical aspects of population screening programme of rare diseases].

Author

Pàmpols Ros T, Terracini B, de Abajo Iglesias FJ, Feito Grande L, Martín-Arribas MC, Fernández Soria JM, Redondo Martín Del Olmo T, Campos Castelló J, Herrera Carranza J, Júdez Gutiérrez J, Abascal Alonso M, and Morales Piga A

Subjects
Humans, Mass Screening ethics, Rare Diseases diagnosis
Abstract

The Committee on Ethics of the Instituto de Investigación de Enfermedades Raras (CEIIER) of the Spanish National Institute of Health Carlos III, presents this article dealing with ethical guidelines regarding the implementation of screening population programmes with special emphasis on genetic screening. After a critical review it has been addressed 24 recommendations concerning 14 topics: evaluation of the opportunity of the programme, including ethical analysis besides scientific evidences and cost/benefits issues; the need to differentiate between research and public health intervention and to built a specific and comprehensive programme; the creation of an interdisciplinary working group which control its implementation and prepare a protocol including justification, development, therapeutic or preventive actions and follow-up activities; the review of the programme by an independent Ethical committee; the guarantee of the voluntary, universal and equitable population access, which requires sufficient information on the programme and their specific relevant facts, as incidental detection of heterozygous state in minors in newborn screening and the relevance of non directive genetic counselling specially in prenatal screening offered to pregnant women; considerations regarding future uses of samples for research purposes; total quality and periodic programme evaluation; guarantee of personal data confidentiality and the conflict of interest statement of the members of all the Committees involved in the programme.

Published
2010
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