Protocolo de medición del nivel funcional de usuarios con atrofia muscular tipo II y III sometidos a tratamiento de Spinraza®
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Fecha
2024
Profesor/a Guía
Facultad/escuela
Idioma
es
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Universidad Andrés Bello
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Licencia CC
Licencia CC
Resumen
La Atrofia Muscular Espinal, es una enfermedad de causa genética autosómica recesiva que afecta principalmente a las neuronas motoras, específicamente por mutaciones en el gen de Supervivencia de Moto Neurona 1 que produce la mayor cantidad de proteína de Supervivencia de Moto Neurona. La sintomatología se caracteriza por atrofia y debilidad muscular. La Atrofia Muscular Espinal se clasifica en cinco tipos, y el nivel de gravedad se puede relacionar con la cantidad de copias del gen de Supervivencia de Moto Neurona 2. En la actualidad existen tres fármacos modificadores para el gen de Supervivencia de Moto Neurona, Spinraza® (Nusinersen), Zolgensma® (Onasemnogene abeparvovec) y Evrysdi® (Risdiplam), que tienen eficiencia y seguridad comprobada. Estudios clínicos han reportado ganancias a nivel funcional de los usuarios mediante la aplicación de escalas específicas para la Atrofia Muscular Espinal, de las cuales se destacan “The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorder”, “Upper Limb Module, Hammersmith Functional Motor Scale”, “Hammersmith Functional Motor Scale Expanded” y “Revised Hammersmith Scale”, siendo la más utilizada la escala Hammersmith Functional Motor Scale Expanded. En Chile, con la aprobación de Spinraza® en el 2018, seguido de Evrysdi® y Zolgensma®, se inicia el tratamiento de usuarios con Atrofia Muscular Espinal y solo en noviembre de 2023, el Ministerio de Salud aprueba un protocolo para el tratamiento con los casos diagnosticados con Atrofia Muscular Espinal tipo I en usuarios menor a 9 meses al momento de administración de Zolgensma® (Onasemnogene abeparvovec) con el objetivo de entregar orientaciones al equipo de salud sobre el procedimiento para la presentación a evaluación de casos clínicos, sin embargo, no se cuenta con protocolos para los usuarios en tratamiento con Evrysdi® ni Spinraza®. Por esta razón, se propone un protocolo de medición motora funcional con la escala “Revised Hammersmith Scale” para usuarios mayores de 2 años tratados con Spinraza®. A través de la aplicación de este protocolo se podrá describir el nivel motor funcional en los usuarios con Atrofia Muscular Espinal y la progresión del tratamiento, además realizar seguimientos y estudios futuros en beneficio de las personas con esta condición de salud.
Spinal Muscular Atrophy is a disease of genetic autosomal recessive cause that mainly affects motor neurons, specifically due to mutations in the Survival Motoneuron 1 gene which produces the largest amount of protein for the Survival Motoneuron. The symptoms are characterized by muscle atrophy and weakness. Spinal Muscular Atrophy is classified into five types, and the level of severity can be related to the number of copies of the Survival Motoneuron 2 gene. Currently there are three modifying drugs for the Survival Motoneuron gene, Spinraza® (Nusinersen), Zolgensma® (Onasemnogene abeparvovec) and Evrysdi® (Risdiplam), that have proven efficiency and safety. Clinical studies have reported gains at the functional level of users through the application of specific scales for Spinal Muscular Atrophy, of which The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorder, Upper Limb Module, Hammersmith Functional Motor Scale, Hammersmith Functional Motor Scale Expanded and Revised Hammersmith Scale stand out, being Hammersmith Functional Motor Scale Expanded the most used. In Chile, with the approval of Spinraza® in 2018, followed by Evrysdi® and Zolgensma®, the treatment of users with Spinal Muscular Atrophy begins, only in November 2023, the Ministry of Health approves a protocol for the treatment with the cases diagnosed with Spinal Muscular Atrophy type I for users younger than 9 months at the moment of Zolgensma® (Onasemnogene abeparvovec) administration, with the aim of providing guidance to the health team on the procedure for presenting clinical cases for evaluation, however, there are no protocols for users undergoing treatment with Evrysdi® or Spinraza®. For this reason, a functional measurement protocol with the Revised Hammersmith Scale is proposed for users over 2 years of age treated with Spinraza®. Through the application of this protocol, it will be possible to describe the functional motor level in users with Spinal Muscular Atrophy and the progression of treatment, in addition to carrying out follow-ups and future studies for the benefit of people with this health condition.
Spinal Muscular Atrophy is a disease of genetic autosomal recessive cause that mainly affects motor neurons, specifically due to mutations in the Survival Motoneuron 1 gene which produces the largest amount of protein for the Survival Motoneuron. The symptoms are characterized by muscle atrophy and weakness. Spinal Muscular Atrophy is classified into five types, and the level of severity can be related to the number of copies of the Survival Motoneuron 2 gene. Currently there are three modifying drugs for the Survival Motoneuron gene, Spinraza® (Nusinersen), Zolgensma® (Onasemnogene abeparvovec) and Evrysdi® (Risdiplam), that have proven efficiency and safety. Clinical studies have reported gains at the functional level of users through the application of specific scales for Spinal Muscular Atrophy, of which The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorder, Upper Limb Module, Hammersmith Functional Motor Scale, Hammersmith Functional Motor Scale Expanded and Revised Hammersmith Scale stand out, being Hammersmith Functional Motor Scale Expanded the most used. In Chile, with the approval of Spinraza® in 2018, followed by Evrysdi® and Zolgensma®, the treatment of users with Spinal Muscular Atrophy begins, only in November 2023, the Ministry of Health approves a protocol for the treatment with the cases diagnosed with Spinal Muscular Atrophy type I for users younger than 9 months at the moment of Zolgensma® (Onasemnogene abeparvovec) administration, with the aim of providing guidance to the health team on the procedure for presenting clinical cases for evaluation, however, there are no protocols for users undergoing treatment with Evrysdi® or Spinraza®. For this reason, a functional measurement protocol with the Revised Hammersmith Scale is proposed for users over 2 years of age treated with Spinraza®. Through the application of this protocol, it will be possible to describe the functional motor level in users with Spinal Muscular Atrophy and the progression of treatment, in addition to carrying out follow-ups and future studies for the benefit of people with this health condition.
Notas
Tesis de (Magíster en Neurorrehabilitación)
Palabras clave
Atrofia Muscular, Protocolos Clínicos