Clinical trial NCT03390985: Canadian Observation Trial in CF Patients Undergoing Treatment With Ivacaftor
Official title: Canadian Observation Trial in CF Patients Undergoing Treatment With Ivacaftor
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Cystic Fibrosis
Lead sponsor: The Hospital for Sick Children
Sponsor class: OTHER
First posted: 2018-01-05
Enrollment: 18
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: CF patients with any of the following mutations G551D, G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P, G1349D and G970R approved by Health Canada to receive ivacaftor.

Brief summary: Specific aims:

1. To elucidate the biological mechanism that leads to pulmonary and nutritional improvement in CF patients following treatment with ivacaftor using advanced techniques to assess changes of the pulmonary and nutritional status
2. To examine the relation between the individual response to ivacaftor and the presence of modifier genes associated with CF disease severity,
3. To assess altered CFTR function using new available in vivo tests,
4. To validate newly developed in vivo sweat tests with well established functional tests,
5. To establish correlation between the CFTR response to Vx-770 measured in a new ex vivo method (organoids) and the actual clinical and/or functional response in individual patients,
6. To examine response in other CF-specific features such as aqua wrinkling.
7. To examine if sleep/activity level changes.
8. To establish a biorepository to enable further investigations.


Eligibility criteria: Inclusion Criteria:

* any patient being prescribed ivacaftor

Exclusion Criteria:

* only relates to specific tests

Primary outcomes:
measure: Functional in vivo Cystic fibrosis transmembrane conductor regulator (CFTR) tests: Nasal Potential difference (NPD) measurements
timeFrame: 7 study visits over a 2 year period
measure: Functional in vivo test: Beta-adrenergic sweat secretion test
timeFrame: 7 study visits over a 2 year period
measure: Functional in vitro test: Rectal tissue biopsies to measure CFTR function in vitro using Ussing chamber studies and organoids
timeFrame: one study visit
measure: Functional in vitro test: Collect nasal brushes for CFTR to generate nasal cell cultures for the assessment of ivacaftor response and CFTR function
timeFrame: 2 study visits in 6 months
Secondary outcomes:
measure: Measurement of aqua wrinkling
timeFrame: 2 study visits in 3 months
measure: Measurement of exhaled fractionated nitrogen oxide (FeNo)
timeFrame: 5 study visits in 1 year
measure: Measurements of the lung clearance index
timeFrame: 5 study visits in 1 year
measure: Measurements of the pancreas function using fecal elastase test
timeFrame: 4 study visits in 2 years
measure: Measurements of the pancreas function using serum trypsinogen
timeFrame: 4 study visits in 2 years
measure: Assessment of the nutritional status
timeFrame: 4 study visits in 2 years
measure: Measurements of the resting energy expenditure
timeFrame: 4 study visits in 2 years
measure: Assessment of pulmonary radiological changes using high resolution CT
timeFrame: 4 study visits in 2 years
measure: Assessment of glucose tolerance
timeFrame: 4 study visits in 2 years
Other outcomes:
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