The aim of this study is to assess the response of the ETI on P2X7R level as inflammatory marker and clinical outcomes in patients with cystic fibrosis.
The aim of this study is to assess the response of the ETI on P2X7R level as inflammatory marker and clinical outcomes including respiratory outcomes, gastrointestinal outcomes, anthropometric measurements in patients with cystic fibrosis. Written consent will be obtained from the legal guardians of the patients or the patients.The study will be 35 CF patients before starting ETI and same patients after 12 months of therapy .The data will be collected as Clinical parameters:Complete history taking including:sociodemographic data ( date of birth, gender, consanguinity and residency), age of diagnosis ,medication history,family history of sibling affection and history of sibling death,history of presenting symptoms as:respiratory symptoms(productive cough, expectoration, dyspnea , wheezes, chest pain),pancreatic function(failure to thrive, steatorrhea, thirst, and polyuria),gastrointestinal symptoms(abdominal pain, bloating and vomiting),symptoms of fat-soluble vitamins deficiency,detailed dietetic history, comorbidities(CF-related diabetes, GIT complications as constipation,and rectal prolapse, respiratory complications as hemoptysis, or pulmonary hypertension).Clinical examination including :complete general examination of the patients especially:respiratory rate, oxygen saturation by pulse oximetry on room air, clubbing,anthropometric measurements: including weight (kg), height (cm), body mass index (BMI) (kg/m²) will be measured and their Z-scores will be calculated according CDC growth charts at 6 and 12 months follow up and Full chest examination for signs of respiratory distress and the auscultatory findings. * laboratory parameters:CBC,CRP,Liver function tests, sputum culture ,genotype (Homozygous or heterozygous Phe508del or any eligible genes for ETI( from medical records )), Human Purinergic Receptor P2X, Ligand Gated Ion Channel 7 (P2RX7), radiological assessment : low dose high-resolution CT (HRCT) of the chest,Pulmonary Function Test:Forced spirometry for cooperative patients with with comment mainly on FEV1 % Predicted and FEF25-75%Predicted and nutritional plan as macronutrients ,micronutrients and Pancreatic Enzyme Replacement Therapy.All of the following data will be collected before ETI and after 12months of treatment: presenting symptoms,all clinical assessment measures that were mentioned before,all laboratory investigations,pulmonary function tests and radiological assessment.
Study Type
OBSERVATIONAL
Enrollment
35
Ain Shams University Hospitals
Cairo, Cairo Governorate, Egypt
Change in P2X7 Receptor (P2X7R) Expression Levels
Five milliliters of venous blood will be collected via venipuncture into serum-separating tubes. Serum levels of soluble P2X7 receptor (sP2X7R) will be quantified in picograms per milliliter (ng/L) using a commercial double-antibody sandwich enzyme-linked immunosorbent assay (ELISA) kit according to the manufacturer's instructions. A decrease in serum P2X7R levels indicates a reduction in systemic inflammatory activity following ETI treatment.
Time frame: Baseline (pre-ETI initiation) and post-ETI initiation (12 months)
Change in Percent Predicted Forced Expiratory Volume in 1 Second (FEV1%)
Evaluated via standard spirometry to assess pulmonary function response.
Time frame: Baseline (pre-ETI initiation) and 6 and 12 months( post-ETI initiation)
Change in Body Mass Index (BMI)
Calculated as weight in kilograms divided by height in meters squared ({kg/m}\^2).
Time frame: Baseline (pre-ETI initiation) and 6 and 12 months( post-ETI initiation)
Change in BMI Z-Score
Standardized nutritional status score calculated relative to age- and sex-specific growth references.
Time frame: Baseline (pre-ETI initiation) and 6 and 12 months( post-ETI initiation)
Change in Gastrointestinal Symptom Severity Score
Assessment of GI clinical status and symptom burden post-treatment.
Time frame: Baseline (pre-ETI initiation) and post-ETI initiation (12 months)
Change in Respiratory Symptom Severity Score
Assessment of Respiratory clinical status and symptom burden post-treatment.
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Time frame: Baseline (pre-ETI initiation) and post-ETI initiation (12 months)