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splicing mutation


I would like to know if there is ongoing research regarding splicing mutations?
Best regards

A splicing mutation lead to either a class I mutation (no CFTR protein at the cell membrane) or a class V mutation (CFTR protein at the cell membrane with a partial function).

Regarding experimental treatment to restore a functional CFTR protein there is no ongoing clinical trial for patients carrying a splicing mutation.
Researchers work with multiples approaches to find a way to restore a functional CFTR protein for all classes of mutations. This research is at fundamental research step or at pre-clinical steps.

Research to treat CF symptoms and for all genotype (mutation) is encouraging. Several clinical trials whose evaluate anti-infectious or anti-inflammatory molecules are ongoing in France, some other should begin in a few months.

If you want to know trials you can take part in please contact your CF cares center to get information about the research protocols in progress in the center.

Best regards
Anna Ronayette