Monday, November 28, 2011
Wednesday, November 23, 2011
Saturday, November 19, 2011
Saturday, November 12, 2011
"...Some mutations result in CFTR proteins at the cell surface that do not function properly. They function like a locked door. VX-770 unlocks the door and allows these proteins to function correctly, improving the flow of salt and fluids in and out of the cell.VX-770 is designed to increase the function of the defective protein at the cell surface in people with the G551D mutation. The defective protein functions like a locked door.
VX-770 helps unlock the door at the cell surface, enabling chloride to pass through, as it would in healthy cells. This restores a proper flow of salt and fluids on the surface of the lung. For these reasons, people carrying the G551D mutation appear to have a strong potential to benefit from VX-770.
It is possible that the results of the Phase 3 trials will provide a basis for the use of VX-770 to treat other similar mutations...."So that gives me some hope (okay, a lot of hope) that this new drug, which will hopefully be made available in 2012, will remove the symptoms of CF in Drew and for everyone with Class 3 mutations and not just those with the G551D mutation. And if it doesn't, there is another drug that targets delta F508 that should be available in the next few years. I also found this posted on a CF Forum website: "The thing that gives me the most hope for Class III mutations is this quote from an abstract of a presentation made by Vertex, where they tested VX-770 in-vitro (in a test-tube): Class III mutations
Friday, November 4, 2011
November 4, 2011
The North American Cystic Fibrosis Conference (NACFC) kicked off its 25th anniversary on Nov. 3 with exciting reports from the CF drug development front and powerful messages of hope from people with CF and their families.
Watch Lauren Brenneman and her son Isaac's video presentation
Thursday, November 3, 2011
I sent it to our doctor at the CF Clinic and this is what she had to say:
.... Either way, a woman pregnant with a fetus they either know or suspect has CF will wonder if there is anything they can do to lessen the chance that the baby will suffer complications in utero.
Until very recently, the answer was no. All that could be suggested was ultrasounds in the third trimester to look for signs of incipient meconium ileus (severe bowel blockage) that might necessitate emergency Caesarean delivery and immediate surgery for the newborn. However, some very recent research argues that supplementation with two nutritional supplements - DHA and GSH - may lessen or even prevent the manifestations of the disease that begin even in utero.
DHA is docosahexaenoic acid. Recent research has shown that CF persons suffer from a 3-fold decrease in the amount of this lipid present in the cell membrane. (Please see section on DHA for more information and scientific references.) The researchers argue that this lipid imbalance plays a role in the development of inspissated plugs in the pancreas and other organs - which plugging begins in utero. The researchers suggest that supplementation of the mother with DHA will tend to rectify the lipid imbalance in her fetus, thus preventing the development of such plugs even in utero. Their theory suggests that the chance of the fetus developing potentially life-threatening meconium ileus can be drastically reduced if the mother's diet is supplemented with DHA. (It is important that the supplement taken contain only DHA, and not any other fatty acids such as EPA or linoleic acid, which compete with DHA for placement in the cell membrane.)
GSH is reduced glutathione. GSH is the most important antioxidant in the body for neturalizing water-soluble oxidants. It is also a powerful mucolytic. For our purposes here, it is glutathione's third property as an important regulator of inflammation that we will discuss in this context. Researchers have shown that the chronic and excessive inflammation that characterizes CF begins in utero. This inflammatory state directly damages the tissues of the body, which in turn primes the body for bacterial colonization as well as eventual immunodeficiency. If one could lessen or even shut off the very start of that inflammation which begins in utero, the CF infant should have a better start in life. In 1998, researchers first noticed that the CFTR channel, which channel is missing or defective in CF persons, is the main efflux route of cellularly-produced GSH (see section on Glutathione for more information and scientific references). This is a very important finding, as the redox state of GSH in immune system cells is the primary trigger of inflammation in the body. If GSH becomes depleted in immune system cells, inflammation begins. This is precisely what begins to happen in the CF body, and this is what is hypothesized to be happening in utero. This theory suggests that supplementation of the mother with GSH may tend to lessen any GSH deficit that may start to develop in the immune system cells of her fetus. This should serve to lessen or even shut off the origin of fetal inflammation.
Thus, in addition to all of the usual vitamins and minerals a pregnant woman is asked to take, a woman who is pregnant with a fetus that she knows or suspects to have CF might also consider supplementation with both DHA and GSH. DHA and GSH are both nutritional supplements available in health food stores without any prescription. And, given that the woman herself is a CF carrier, and therefore suffering to a lesser degree from the CF mutation, the additional DHA and GSH might do her own body good as well! (Please also see our link on the importance of a postpartum Vitamin K shot for a CF newborn.)
One last piece of research will also be useful to the woman: pregnant CF carriers tend to develop gestational diabetes during pregnancy. Alert your obstetrician or midwife to that fact, so that precautions can be taken. You may need to avoid certain types of food, such as sucrose, during your pregnancy. You may also gain more weight than the average pregnant woman because of the gestational diabetes. One good thing is that unlike non-CF carriers that develop gestational diabetes, you are unlikely to develop potentially dangerous hypertension. The reason for this is that CF carriers, like CF persons, tend to have lower-than-average blood pressure to begin with. This is one of the few blessings of having a CF mutation! However, you cannot count on this as a certainty. We have heard from one mother, a carrier of the delF508 mutation, who did have high blood pressure while pregnant. Another observation has been that the placentas created by the bodies of CF carriers tend to become quite calcified - almost to the same extent as if the mother was a heavy smoker. It is theorized that this has to do with the impaired absorption of minerals by the CF carrier's body. This may also be important for your doctor or midwife to understand.
I have seen a review article that describes the fatty acid alterations in blood and tissue of CF patients. There have been studies looking at supplementation in CF patients which show an increase in the fatty acid composition but no change in clinical outcomes. They conclude that larger studies are needed and more clinical outcomes need to be evaluated to see what impact supplementation may have. I have not seen anything about fatty acid alterations in CF carriers or supplementation during pregnancy. However, it seems as though DHA and GSH supplementation would not cause any harm and therefore may be worth a try. You might want to talk to your OB.