Longitudinal Observational Study on the Course of Cystic Fibrosis Lung Disease in Patients Following Newborn Screening

Prior treatment

• Previous major surgery except for meconium ileus or atresia of the intestine

Other illness

• A significant medical disease or condition other than CF likely to interfere with the child's ability to complete the entire protocol
• Other major organ dysfunction, excluding pancreatic or hepatic dysfunction or another condition due to CF
• Chronic lung disease other than CF (e.g. bronchopulmonary dysplasia)
• History of adverse reaction to medication for sedation or known claustrophobia
  • Criteria, which lead to a displacement of the procedures in sedation until the child has recovered: - Clinically significant upper airway obstruction as determined by investigator (e.g.
  • severe laryngomalacia, markedly enlarged tonsils, significant snoring, diagnosed obstructive sleep apnoea)
  • \- Severe gastroesophageal reflux, defined as persistent frequent emesis despite anti-reflux therapy

Other

• All patients are excluded who themselves or whose parents do not want to participate or that withdraw from the study; or those in whom the diagnosis of CF is unsure.
• Further exclusion criteria are:
• Preterms \<30th week of gestation
• Longer period of mechanical ventilation in first 3 months of life
• Physical findings that would compromise the safety of the subject or the quality of the study data as determined by investigator

• Newly diagnosed patients with Cystic Fibrosis (CF). Diagnosis of CF: at least one of the following three international accepted criteria is fulfilled: i) sweat chloride ≥ 60mEq/L and/or ii) 2 CF-causing mutations in the CFTR gene and/or iii) changes typical for CF in the transepithelial potential difference in nasal or rectal epithelium.
• Age and mode of diagnosis:
  • Early diagnosed (ED): Initial diagnosis following CF-NBS or for other reasons in the first 4 months of life (in preterms corrected age of 4 months) after January 1st, 2006. Other reasons could be prenatal diagnostics, meconium ileus or positive family history.
  • Late diagnosed (LD): Diagnosed after the fourth month of life due to clinical symptoms; initial diagnosis after January 1st, 2006.