F508del mutation treatment

Question

Hello,
following the results released yesterday by Vertex to treat patients with two delta F508 mutations, what it about the patients with only one delta F508 mutation?
In fact, when our son was born in 2011 we were told that there will be a cure for one of the two mutations, but for now I can find no information about it.
Is it possible that the treatment will work as intended by our CF Center doctor?
Thank you for your response,
best regards

Answer

Hello,

Vertex Pharmaceuticals published in July 27th 2014 a press release announcing the results of the ivacaftor-lumacaftor combination in CF people with only one copy of the F508del mutation (associated with another mutation that is not expected to respond to this combination of drugs).

This is a Phase 2, randomized, double-blind, 8 weeks study. It aimed to explore:
• the safety, tolerability and efficacy of the product (actually a combination of two products) at different doses,
• by comparing two groups of patients, volunteers, over 12 years, selected at random (randomization) to receive either the combination of the test product or placebo, the patient as well as the doctor did not know of product drawn (double blind).
The study concluded:
• that safety and tolerability of the product tested were satisfactory, comparable to those found in studies with the same product in patients with 2 mutations F508del;
• that in the treated group, chloride sweat concentration was significantly decreased and the quality of life score significantly improved;
• but that changes in FEV and body mass index were not significantly different between the treated group and the placebo group.

The statement concludes by outlining the development of other molecules that could be tested in patients with only one mutation F508del.

Hope that answers your question.
Sincerely.

Gilles RAULT, MD
Roscoff CF Center

10.09.2014