Page 163 - Educacional Ponenecias Congreso SEHH-STH 2020

El tratamiento con mitapivat produce un rápido, sostenido y clínicamente significativo incremento de la hemoglobina en la mitad de los pacientes con dé- ficit de PK, con mejoría de los parámetros de hemó- lisis en una amplia variedad de pacientes. Dada la relación de la respuesta con el genotipo observada con mitapivat, los pacientes con 2 mutaciones de tipo no-missense u homocigotos para R479H, en principio no candidatos a este tratamiento, probablemente po- drían ser elegibles en el futuro para ensayos de tera- pia génica.
Tanto los activadores de la glucolisis como la terapia génica son terapias emergentes en eritropatología y, si se vuelven clínicamente disponibles, el enfoque te- rapéutico de estos pacientes cambiaría significativa- mente.
❯ Bibliografía
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