Research on delF508 mutation

Question

Hello

It’s not the first time I ask you a question, and first of all I would really thank you for the help, the information and sometimes the comfort that you bring us through this website.
I don’t want to abuse your precious time but could you resume in a few lines the research which is ongoing regarding delF508 mutation. Indeed, we heard a lot about different things, different research (and it’s great!) but all of them do not concern the delF508 mutation and I have to confess that I am confused. Is there also research for patients heterozygous for the delF508 mutation going on? At what stages are the researchers? Could we have a summary on tested molecules and their phases?
Thank you in advance for your response. Best regards.

Answer

Hello

Kalydeco® or VX770 is prescribed today for patients over 5 years with G551D mutation in at least 1 allele. A phase III clinical trial has showed the efficacy of Kalydeco® for patients with a CFTR gating mutation in at least 1 allele (non G551D): G178R, G551S, S549N, S549R, G970R, G1244E, S1251N, S1255P, or G1349D.
Around 4% of CF patients in France have a CFTR gating mutation in at least 1 allele. An extension of the European marketing authorization will be requested by Vertex to allow Kalydeco® to be prescribed for all patients concerned.
Kalydeco® is actually evaluated in children aged 2 to 5 with a gating mutation.

A clinical trial (phase III) is ongoing for patients homozygous for the delF508 mutation. The goal of this trial is to evaluate the effect of Ivacaftor (VX770) associated to Lumacaftor (VX809). The trial is almost ended and results will be communicated by the end of the year.

A clinical trial (phase II) to evaluate the effect of VX770 associated to VX809 in patients with delF508 mutation in 1 allele has just ended. If results are good, the next step is the establishment of a phase III clinical trial in order to confirm the effect on a larger number of patients.


Best regards,
Anna Ronayette

28.04.2014