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Vertex and F508del and 1717-1GA in exon 11

Question
Hello,
I have got the F508del and 1717-1GA in exon 11. Do you know about the clinical trials for my mutation, is there any trail in progress?
Best regards
Answer
Hello,
Your compound heterozygous CFTR genotype combines:
- the 1717-1GA. It is a class I mutation, means it stops prematurely the synthesis of the encoded CFTR protein (hence the other name Stop mutation);
- and F508del, the most frequent mutation of the CFTR gene. It is a class II mutation, means it encodes the synthesis of a mutated CFTR protein that is recognized as abnormal and destroyed in the cytoplasm of the cell and therefore cannot migrate and act as a chloride channel into the cell membrane.
There is currently an international multicenter clinical trial led by PTC Therapeutics laboratory to test the effectiveness of the Ataluren molecule in CF patients with at least one stop mutation. Five French centers are open or being opened to participate in this trial: Lyon, Montpellier, Paris Enfants-Malades, La Réunion and Roscoff.

I am not aware about an another trial to specifically correct the dysfunction of the protein encoded by the F508del mutation in patients with a single copy of the mutation.
Sincerely,
Gilles RAULT, MD, Roscoff CF Center
12.02.2015