W1282X und R347P

Question

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

Answer

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