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CFTR correctors

Ερώτηση
Dear expert team,
on the 27th of july 2018the European committee for human drugs has licensed a new drug for delF508 and delF508+residual function mutation. Is this drug also licensed for patients with a residual function mutation or only in combination with delF508?
Especially for the rare group of patiens with residual function mutations it is nearly impossible to do an in-vivo study, which seems to be mandatory for the European authorities in order to license the drug. Furthermore the group of the residual function mutations is a rather small group which is not interesting from the marketing standpoint for the companies an therefore it seems improbable that studies or licensing will follow.
How do you judge the availability of drugs for residual function mutations in Europe in the near future?
Many thanks!
Απάντηση
Dear questioner,
you address with your question Symdeko, a combination of Ivacaftor and Tezacaftor. The drug has been licensed in the USA in february 2018 for the treatment of patients mit CF from the age of 12 years on. It allows the usage of the drug in patiens with 2 copies of F508del mutation or one mutation that responds to treatment:
711+3A→G D110H F1052V R347H
2789+5G→A D579G F1074L R352Q
3272-26A→G D1152H K1060T R1070W
3849+10kbC→T D1270N L206W S945L
A455E E56K P67L S977F
A1067T E193K R74W
R117C
D110E E831X
Symdeko is only licensed in combination with delF508.
In our opinion in the future there would also be studies, that include patients with residual function mutations even if they are not in combination with delF508.
Best regards,
Dr. Ch. Smaczny
26.10.2018