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Hoja de ruta para un enfoque centrado en el paciente para el manejo de la enfermedad de Pompe
Benedikt Schoser1, Cristina Domínguez-González2, Pascal Laforet3
1Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany. benedikt.schoser@med.uni-muenchen.de.
Journal of neurology
|February 14, 2026
Resumen
El establecimiento de centros de excelencia para la terapia génica de la enfermedad de Pompe requiere el consenso de expertos sobre el manejo del paciente, el cribado y la atención especializada multidisciplinar. Esto garantiza un tratamiento optimizado y aborda los desafíos logísticos de este trastorno genético raro.
Área de la Ciencia:
- Genética y Enfermedades Raras; Terapia Génica; Desarrollo de Protocolos Clínicos
Sus antecedentes:
- La enfermedad de Pompe es un trastorno genético progresivo causado por variantes del gen GAA.
- La terapia génica presenta un tratamiento potencial a largo plazo, pero enfrenta obstáculos logísticos y clínicos.
- El consenso de expertos es crucial para el establecimiento de centros especializados para la terapia génica de la enfermedad de Pompe.
Objetivo del estudio:
- Definir los requisitos para el establecimiento de centros europeos de excelencia para la terapia génica de la enfermedad de Pompe.
- Desarrollar recomendaciones basadas en expertos para el manejo óptimo del paciente y el acceso al tratamiento.
Principales métodos:
- Un enfoque de grupo de expertos modificado que utiliza investigación cualitativa y opinión de expertos.
- Reuniones en línea para la validación de temas, generación de contenido y refinamiento de recomendaciones.
- Discusión y validación sistemáticas del contenido generado por expertos sobre protocolos de terapia génica para la enfermedad de Pompe.
Principales resultados:
- Las recomendaciones incluyen la ampliación del cribado neonatal y el desarrollo de protocolos para la enfermedad de Pompe de inicio tardío presintomática.
- Son esenciales equipos multidisciplinares especializados, evaluaciones previas a la terapia génica y monitorización continua durante las infusiones.
- La atención posterior a la terapia génica implica inmunosupresión, monitorización de eventos adversos (hepatotoxicidad, miocarditis, etc.) y evaluaciones integrales de la enfermedad de Pompe.
Conclusiones:
- La implementación de la terapia génica para la enfermedad de Pompe requiere un enfoque coordinado y multidisciplinar.
- Es fundamental abordar las lagunas de conocimiento, las necesidades de infraestructura y las estrategias de manejo del paciente.
- El establecimiento de centros de excelencia requiere protocolos definidos y experiencia especializada.
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