ABSTRACT
BACKGOUND: Elexacaftor-tezacaftor-ivacaftor partially restores cystic fibrosis transmembrane conductance regulator function, and has been shown to induce significant clinical improvement in patients with at least one Phe508del allele. Yet little data exist on patient perspectives following elexacaftor-tezacaftor-ivacaftor initiation. METHODS: A mixed methods study was conducted using an online 13-item questionnaire (including 9 closed questions and 4 open questions), submitted from July 10th to August 21th 2020 to French patients aged 12 years and older with advanced CF who were treated with elexacaftor-tezacaftor-ivacaftor. Their responses were summarized as numbers (%), and free-text items were analysed using a grounded theory approach. RESULTS: Of 245 patients who started elexacaftor-tezacaftor-ivacaftor in France, 101 (41%) participated. Median [IQR] age was 35 [28-41] years and duration of elexacaftor-tezacaftor-ivacaftor treatment was 4.3 [3.0-5.6] months. Patients generally reported a rapid impact on respiratory symptoms, sleep quality, general well-being and physical self-esteem, and a reduction in overall treatment burden. The majority of patients contrasted treatment burden, symptom severity, depression and a closed future marked by death or transplantation before elexacaftor-tezacaftor-ivacaftor, to renewed and unexpected physical strength, leading to greater self-confidence, autonomy and long-term planning, after treatment initiation. A small number of patients expressed concerns, mainly regarding changes in body representation and/or the fear of becoming dependent on the treatment. CONCLUSION: After initiation of elexacaftor-tezacaftor-ivacaftor, CF patients with advanced disease reported rapid and positive physical, psychological and social effects, which translated into improved quality of life and the formulation of new life goals.
Subject(s)
Cystic Fibrosis , Adult , Aminophenols , Benzodioxoles , Chloride Channel Agonists , Cystic Fibrosis/drug therapy , Cystic Fibrosis/genetics , Humans , Indoles , Mutation , Pyrazoles , Pyridines , Pyrrolidines , Quality of Life , Quinolones , Sleep QualityABSTRACT
Aliquots of plasma samples assayed after storage at -26 degrees C can show a significantly higher level of measured beta-thromboglobulin (beta-TG) than the corresponding unstored aliquots. Blood spun at the recommended speed of 1,800 X g still contains platelets that will release beta-TG on freezing to yield false results--a point that has not been stressed in the literature. Aliquots of blood plasma spun at either 1,800 X g (low speed [LS]) or 20,000 X g (high speed [HS]) were assayed by radioimmunoassay fresh and after storage at 4 degrees C or -26 degrees C. Storage at -26 degrees C increased mean beta-TG values of fresh or 4 degrees C stored LS samples from 0.78 to 1.94 nmol/L (28-70 ng/mL), whereas all HS mean values were +/- 0.51 nmol/L (between 18 and 19 ng/mL). The authors believe that in addition to the accepted precautions regarding blood sampling and handling, it is essential to stress that for accurate measurement of beta-TG in plasma, samples should be centrifuged at HS or, if this is not feasible, that they be assayed as soon as possible without prior freezing.
Subject(s)
Radioimmunoassay , beta-Thromboglobulin/analysis , Blood Preservation , Centrifugation/methods , False Positive Reactions , Freezing , Humans , Radioimmunoassay/methods , Radioimmunoassay/standards , TemperatureABSTRACT
También publicado en la OSP.Publicación No. 85. Marzo,1933
