Tom3 schreef op 4 januari 2020 16:30:
Is die gentherapie dmv virale vectoren wel geschikt voor Usher?? Volgens de Radboud kliniek in Nijmegen niet. Daar lijkt Iveric wat op gevonden te hebben:
Lebers Congenital Amaurosis type 10 (LCA10), the most common type of LCA, is an orphan inherited retinal disease caused by mutations in the CEP290 gene. Mutations in CEP290 lead to severe bilateral vision loss in early childhood, incapacitating affected individuals.
We estimate that there are approximately 2,700 to 4,100 individuals in the United States and the five major European markets on a combined basis with LCA10.
The size of the CEP290 gene exceeds the packaging capacity of standard AAV vectors. The innovative mutation independent minigene strategy allows the use of a smaller sized CEP290 gene that not only fits inside the AAV vector but also transcribes a functional protein. There is currently no FDA or EMA approved therapy to treat LCA10.
We are developing a mutation independent AAV minigene therapy designed to a deliver miniCEP290 gene to cone photoreceptors to restore vision in patients with LCA10.