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F508del and CFTRdup19
- Question
- Dear ladies ad gentlemen,
My daughter (8 months old) carries the mutations F508del and CFTRdup19 (Exon 19).
Currently, she is not taking any medication; her blood work was normal, and her ultrasound was also unremarkable. Her pancreas is functioning, and she is gaining weight very well (weighing just under 9 kg).
Two sweat tests yielded results of 46, while the most recent one came back at 64.
What can we expect given this specific combination? According to genetic specialists, my daughter is only the sixth patient ever identified with this particular combination.
What potential effects might this have, or are there perhaps any experiences from other patients that you could share?
Based on clinical experience, is it inevitable that the disease will eventually manifest, or could this turn out to be an atypical form of CF?
Furthermore, should the need arise, would she be a suitable candidate for modulator therapies?
Thank you.
Best regards. - Answer
- Dear inquirer,
F508del is a mutation of the CFTR gene that causes cystic fibrosis; CFTRdup19 is likewise a causative mutation. This means that, with this specific combination of mutations, your daughter carries two CFTR gene variants that cause cystic fibrosis and therefore has the disease.
Crucial to the course of your daughter's illness is the following step: Please contact the appropriate cystic fibrosis treatment center in your area. It is well established that having a multidisciplinary team with expertise in CF care oversee the patient is critical to the progression and management of cystic fibrosis.
Clinical decisions—including the question of modulator therapy—will be made expertly by the treatment team at that center.
If your daughter is currently not receiving care at a specialized CF center, or if you do not feel that she is in good hands at her current facility, you can find a suitable contact point here (for Germany):
https://www.muko.info/leben-mit-cf/adressen/cf-einrichtungen?gad_source=1&gad_campaignid=8487910947&gclid=EAIaIQobChMIoLbLn6DvkwMVkoODBx03UzbyEAAYASAAEgKEUPD_BwE
With best wishes for your daughter,
Frauke Stanke - 17.05.2026
