La terapia genética utilizada en un intento de salvar la vista de un hombre

Los investigadores de Oxford han tratado a un hombre con una técnica de terapia génica avanzada para evitar que pierda la vista.
Es la primera vez que alguien ha tratado de corregir un defecto genético en las células sensibles a la luz que revisten la parte posterior del ojo.

El presidente de la Academia de Ciencias Médicas dijo que el uso generalizado de la terapia génica de este tratamiento será pronto posible.

La operación se llevó a cabo a los 63 años de edad en Jonathan Wyatt, un abogado de arbitraje con sede en Bristol.

El Sr. Wyatt fue capaz de ver con normalidad hasta la edad de 19 años cuando comenzó a tener problemas para ver en la oscuridad. Los médicos le dijeron que su visión podría empeorar progresivamente y que finalmente se quedaría ciego.
El deterioro progresivo de su visión no se detuvo aunque al Sr. Wyatt no le privó de obtener el título de abogado.  Pero hace 10 años descubrió que tenía dificultades para leer los atestados en condiciones de poca luz en los tribunales.
«La peor ocasión fue cuando estaba leyendo una declaración ante el tribunal y cometí un error. El juez se volvió hacia mí y me espetó» ¿No puede usted leer señor Wyatt? ‘  Entonces decidí que era hora de colgar mi peluca abajo y dejar la defensa «.

El sr. Wyatt es capaz de ver lo suficientemente bien como para trabajar desde casa y espera que la operación le permitirá continuar con su profesión.
Sin el tratamiento se iba a quedar ciego en pocos años y sería incapaz de trabajar de la manera que lo está haciendo ahora.
«Me gustaría que las cosas se pusieran un poco mejor», dice.

Diagnóstico devastador
El Sr. Wyatt sufre un raro desorden genético conocido como Choroideraemia.

Estos pacientes comienzan la vida con una visión normal y no es hasta el final de la infancia que se dan cuenta de que no ven nada por la noche y por lo general, el diagnóstico se realiza, como media, a finales de la infancia.
Desde entonces es un diagnóstico devastador debido a que a estos jóvenes se les dice que, poco a poco, van a perder la vista por completo, por lo general, hacia los 40. No hay tratamiento para esta condición.

La enfermedad es causada por un gen defectuoso heredado, llamado REP1.  Sin una copia funcional del gen, las células encargadas de detectar la luz en el ojo mueren.

La idea de la terapia génica es simple: detener la muerte de las células mediante la inyección de copias del gen trabajando en ellos.

Es la primera vez que alguien ha tratado de corregir un defecto genético en las células sensibles a la luz que revisten la parte posterior del ojo.

El Sr. Wyatt es el primero de los 12 pacientes sometidos a esta técnica experimental en los próximos dos años en el Hospital John Radcliffe en Oxford.
Su médico, el profesor Robert MacLaren, cree que él va a saber con seguridad si la degeneración en los ojos el señor Wyatt se ha detenido en dos años.  Si ese es el caso, su visión se mantendrá de forma indefinida.
«Si esto funciona con él, entonces nos gustaría ir y tratar a los pacientes en una etapa mucho más temprana de la infancia, efectivamente, donde todavía tienen una visión normal y puede hacer cosas normales, para que no pierdan la vista.
El profesor MacLaren considera que si esta terapia genética funciona, se podría utilizar para tratar una amplia variedad de trastornos oculares, como la forma más común de ceguera en la degeneración macular asociada a edad avanzada,… “Eso es una enfermedad genética y no tengo ninguna duda de personal, en el futuro habrá un tratamiento genético para ello», dice.

La investigación de Oxford se deriva de un ensayo de terapia génica que se inició hace cuatro años en el Hospital Moorfields, en Londres.  El objetivo principal de estos ensayos fue demostrar que la técnica era viable.
El tratamiento, que adoptó un enfoque ligeramente diferente, se probó en pacientes adultos cuya visión casi había desaparecido y luego,en los niños.
Según el profesor Robin Ali, quien dirigió esta investigación, los ensayos han demostrado no sólo que la terapia génica es segura, sino que no ha habido una mejora significativa en algunos pacientes.
«Es muy emocionante ver el inicio de otro ensayo de terapia génica ocular y ver como este campo se está moviendo tan rápidamente en los últimos años», dijo.

«En los últimos 12 meses, varios nuevos ensayos de terapia génica para el tratamiento de diversos trastornos de la retina se han iniciado y otros ensayos es probable que comiencen muy pronto. Todos estamos deseando ver los resultados».

El concepto de usar la terapia génica para el tratamiento de toda una serie de enfermedades data de alrededor de más de 20 años.  Sin embargo, con algunas notables excepciones, es una idea que no estuvo a la altura de sus expectativas.
Ahora, sin embargo, parece que la técnica empieza a dar resultados, al menos en el tratamiento de trastornos de la visión.

Según el profesor Sir John Bell, presidente de la Academia de Ciencias Médicas, estos ensayos, muy tempranos, en Oxford, Londres y en los EE.UU. sugieren que una gran cantidad de trastornos de la visión podría ser tratable «en los próximos 10 años».
«De todas las cosas que están disponibles para este conjunto particular de enfermedades, este es de lejos el más emocionante», dijo.
«Este es un conjunto de enfermedades en que en la medicina molecular se ha llegado a un punto donde podemos intervenir de una manera muy precisa para corregir el defecto que causó la ceguera en primer lugar. Existe la posibilidad de que se pueda corregir el defecto genético. «

El estudio, dirigido por la Universidad de Oxford, ha sido co-financiado por el Wellcome Trust y el Departamento de Salud.  Es un ejemplo de un nuevo enfoque a la investigación médica, que reúne a científicos y médicos para traducir la ciencia básica en tratamientos efectivos con mayor rapidez
«Aquí es exactamente donde el NHS debería estar poniendo su esfuerzo y es un perfecto ejemplo de los beneficios que puede acarrear el uso de la NHS para este tipo de investigación», dijo el profesor Bell.

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