Ivacaftor caused a significance increase in weight in patients carrying the G551D mutation and the etiology of this has largely remained unknown but may be due to improved function of the gastrointestinal tract. The combination therapy of Orkambi has been recently approved for subjects with Cystic Fibrosis homozygous for F508del mutation. This provides an opportunity to examine if there are any improvements in gastrointestinal function. The investigators aim to investigate various aspects of gastrointestinal and pancreatic function before and 6 months after the commencement of Orkambi therapy.
Description: Is a marker of intestinal inflammation measured in the stool
Measure: Concentration of fecal calprotectin Time: Change from baseline at 6 months after commencing treatment with OrkambiDescription: Is a test of pancreatic function measured in the stool.
Measure: Concentration of fecal elastase-1 Time: Change from baseline at 6 months after commencing treatment with OrkambiDescription: The method of SBCE has been well established as a descriptive diagnostic tool for intestinal inflammation and has been used as an outcome measure in clinical trials. Erythema, petechiae, mucosal erosions and ulcerations will be assessed according to the Maiden criteria
Measure: Change in small bowel capsule endoscopy (SBCE) Time: Change from baseline at 6 months after commencing treatment with OrkambiDescription: Inflammatory marker, unit mg/L.
Measure: Change in CRP Time: Change from baseline at 6 months after commencing treatment with OrkambiDescription: Inflammatory marker, unit mm.
Measure: Change in sedimentation rate Time: Change from baseline at 6 months after commencing treatment with OrkambiDescription: Inflammatory markers: alpha-1-antitrypsin, haptoglobin, orosomucoid, immunoglobulin A, M and G.
Measure: Concentration of serum electrophoresis. Time: Change from baseline, 6 months after commencing treatment with OrkambiDescription: ALT, AST, ALP, gamma-GT. Unit: mikrokat/L
Measure: Change in liver function tests Time: Change from baseline at 6 months after commencing treatment with OrkambiDescription: Bilirubin. Unit: mikromol/L
Measure: Change in bilirubin Time: Change from baseline at 6 months after commencing treatment with OrkambiCase-Only
There is one SNP
Gastrointestinal Study at Orkambi Therapy in CF Patients Ivacaftor caused a significance increase in weight in patients carrying the G551D mutation and the etiology of this has largely remained unknown but may be due to improved function of the gastrointestinal tract. --- G551D ---