Σύνδεση χρήστη
Εισάγετε εδώ το όνομα χρήστη και τον κωδικό πρόσβασής σας για να συνδεθείτε στον ιστότοπο:
Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.
W1282X und R347P
- Ερώτηση
- Dear expert team,
what is the latest research concerning the above mentioned mutations? Will there be any drugs soon that correct the genetic defect?
Thanks - Απάντηση
- Dear questioner,
the research on that field is very active. At the moment (beginning of 2019) the following drugs are licensed (on the market):
- Kalydeco® (Ivacaftor)
for cf patients over 12 months of age and Heterozygosity for the following mutations:
G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N oder S549R
or an R117H-mutation in at least one allele of the CFTR-gene (in the USA also 3849+10kbC->T)
- Orkambi® (Lumacaftor/Ivacaftor)
for CF patients over 2 years of age and homozygosity for F508 del
-Symkevi ® (Tezakaftor 100mg/Ivacaftor 150mg) in combination mit Ivacaftor,
for CF patients over 12 years of age and
Homozygosity for F508del
oder
Heterozygosity for F508del + and one of the following mutations:
P67L, R117C, L206W, R352Q, A455E, D579G, 711+3A→G, S945L, S977F, R1070W, D1152H, 2789+5G→A, 3272-26A→G und 3849+10kbC→T.
The above mentioned mutations are unfortunately not among the ones with available drugs. The research goes on, but it is impossible to tell a definite timepoint for the availability of new drugs which are for further CF-causing mutations. However it is possible, that such drugs will be developed.
Best regards,
Dr. Ch. Smaczny - 01.04.2019
