ecorn-cf: App. question list

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Mutation w1282x: Hello, My two months old son was diagnosed a month ago. The first mutation is W1282X, included in the so-called severe mutations, type 1. The second has not yet been found, it is apparently quite rare. I have two questions relative to this: does W1282X necessarily give severe symptoms (my son is already taking Creon for his pancreas does not produce enough enzymes)? Are very rare mutations moderate or can they be severe? Thank you in advance; 15.05.2012

Ataluren trial for classe I mutation: Hello and thank you for your site ... Our 12 year old son is heterozygous for the CFTR mutation: deltaF508/11717-1GtoA. Reading this question in English on your site, here is the link: http://ecorn-cf.eu/index.php?id=32&no_cache=1&L=8&tx_expertadvice_pi1[showitem]=3182&tx_expertadvice_pi1[search]= I understand that a study for mutations belonging to class I, but not ending with an X, would take place this summer. Am I right? If so, how should it be organized? Would the mutation 1717-1GtoA be involved? In advance thank you very much for your reply. And thank you for the time you give for patients and their families. Best regards M.; 15.05.2012

p.W1204X Mutation: Hello, I wanted to know if the mutation carried by my daughter, the p.W1204X could possibly benefit from the drug that would result from project ataluren?; 15.05.2012

P. aeruginosa: First of all, thank you for having created this site and that we can ask questions that we don't always dare to ask when visiting the CF centre. My question is about Pseudomonas aeruginosa, is it transmitted through saliva? Is it more "dangerous" for a child than for an adult? And does everyone catch it at least once? thank you for your answers; 15.05.2012

Sick parent and measures: Hello I have a one year old child with cystic fibrosis. When the parents have a disease like rhinitis, is the use of alcohol based hand gel and mask enough?; 15.05.2012

Vitamin D target value and refund: Hello, I was just searching about your expert advice platform and found the statement that the target value for vitamin D is 20ng/ml. This is not according to the newest recommendations which suggest at least 30ng/ml. Question: Most patients do not get their vitamin D preparations reimbursed (what is probably not such a big problem due to the low price). Could, however, highly dosed vitamin D be prescribed for (almost all) CF patients and thus become refundable (e.g. Dekristol 20.000 IU; taken according to requirements for example once per week or once per month…)? Vitamin D can be stored in the body, doesn't it…???; 15.05.2012

Vedrop®: Hello, I would like to know the latest status concering the prescription of Vedrop® in patients with cystic fibrosis. Our CF center informed me that the company withdrew the approval for individuals with CF and that therefore they do not prescribe the drug anymore since the health insurance does not pay for it anymore [the original question was asked in German; question and answer refer to the German health care system]. This can also be found here: http://www.akdae.de/Arzneimitteltherapie/NA/Archiv/2009008-Vedrop.pdf [German link; a link that is not an exact translation but contains similar information is: http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Summary_for_the_public/human/000920/WC500047920.pdf ; see also http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Product_Information/human/000920/WC500047919.pdf ] I know, however, from other parents of children with CF that their CF centers do still prescribe Vedrop®. Could you maybe clarify what the facts are? Many thanks and best regards; 15.05.2012

Vitamin D: Hello, My son has CF, and I just heard that his vitamin D level is only at 15 ng/ml. He is an adult of normal weight. How quickly would you saturate and in which doses? The literature has different specifications (ranging from 20.000 IU per day to 200.000 IU per day) until the value reaches 30; after that, 3000 per day? Regards and thank you.; 15.05.2012

Cystic fibrosis: Hello, I have a 8-year-old daughter. She was diagnosed with a bronchial stenosis when she was a baby; an operation was done to take care of it. Two weeks ago we went to the hospital in Munich and it was diagnosed that the lung artery pushes against the bronchus and that is the reason for the constriction. A computer tomography was done. For six weeks now she has problems with cough and fever. The paediatrician prescribed a sweat test. The first value was 55, the second was 59. Currently, she has a heavy bacterial infection, though, and therefore we are supposed to treat it for two weeks with antibiotics and then have a third test done. Can the infection have an influence on the value of the sweat test? Can we assume that the current values relate to mild CF?; 14.05.2012

Mutation 855del22: Hello, Only one question: do you know the mutation 855del22? It’s unknown on the web. My two children have a mild and obviously very rare form of CF, with pancreatic sufficiency: 855 del 22 or c.723_743+1del. It corresponds to the loss of 22 nucleotides at the exon 6a, named 855del22. We found this mutation in my daughter who is 16 years old, in my son and in my husband. I’m carrier of the 3849+10kbC>T (c.3747+10kbC>1) mutation. I learned from the french CF association “Vaincre La Mucoviscidose” that there is a more well known mutation - 852del22 mutation - in italian patients (I specify that my husband is of italian descent: from south, around Bari). Thank you in advance for your answer. Cordially.; 14.05.2012