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Una terapia para la mayoría de las personas con fibrosis quística

Christine E Bear¹

¹Program of Molecular Medicine and the Program for Individualized Therapy at SickKids Hospital (CFIT), The Hospital for Sick Children, Toronto, ON, Canada; Departments of Physiology and Biochemistry, University of Toronto, Toronto, ON, Canada.

|January 25, 2020

Resumen

TRIKAFTA es un nuevo medicamento aprobado por la FDA que trata la fibrosis quística (FC) mediante la corrección de defectos de la mutación F508del. Es eficaz para los pacientes con FQ con una o dos copias de esta mutación, a diferencia de los medicamentos anteriores.

Área de la Ciencia:

La bioquímica
La genética
Farmacología

Sus antecedentes:

La fibrosis quística (FC) es un trastorno genético causado por mutaciones en el gen CFTR.
La mutación F508del es la mutación más común, que conduce al plegamiento incorrecto de la proteína y al transporte defectuoso de iones.
Los tratamientos anteriores se dirigieron a las mutaciones homocigotas F508del.

Objetivo del estudio:

Evaluar la eficacia de TRIKAFTA en pacientes con FC con la mutación F508del.
Comparar la eficacia de TRIKAFTA en pacientes con una o dos copias de la mutación F508del.

Principales métodos:

Ensayos clínicos en pacientes con fibrosis quística con mutaciones F508del.
Evaluación de la eficacia del fármaco sobre la base de las medidas de resultado de la FQ establecidas.

Principales resultados:

TRIKAFTA es el tercer medicamento aprobado por la FDA para los defectos relacionados con F508del.
TRIKAFTA demuestra eficacia en pacientes con FQ con al menos una copia de la mutación F508del.
TRIKAFTA muestra superioridad sobre sus predecesores para una mayor aplicabilidad al paciente.

Conclusiones:

TRIKAFTA ofrece un avance significativo en el tratamiento de la FQ.
El fármaco amplía las opciones terapéuticas para los pacientes con F508del.
La eficacia de TRIKAFTA en pacientes heterocigotos F508del amplía su utilidad clínica.

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