A document by Jana Eckert. Click on the document to view its contents.

Background: Newborn screening (NBS) has been shown to improve CF disease course and has been widely implemented worldwide. This monocentric study compared children diagnosed by NBS vs. a cohort preceding the implementation of NBS in Germany in 2016 to evaluate ascribed benefits of NBS. Methods: We compared all children with confirmed CF diagnosis (n=19, “NBS group”) out of all children presenting with positive NBS at our center after implementation of NBS (n=100) to children diagnosed with CF at our center within 4 years before NBS implementation (n=29, “pre-NBS group”) for outcomes of anthropometry, gastrointestinal and pulmonary disease manifestations and respiratory microbiology. Results: Children diagnosed by NBS had a lower incidence of initial feeding problems (15% vs. 41%), had a higher BMI z-score at diagnosis and higher mean z-scores for BMI, weight and length during the study period. Children in the pre-NBS group displayed higher proportions of oxygen-dependent pulmonary exacerbations (10% vs. 0%), a significantly lower amount of normal bacterial flora (p=0.005) along with a significantly higher number of throat swab cultures positive for Pseudomonas aeruginosa (p=0.0154) in the first year of life. Yet, pulmonary imaging did not reveal less pulmonary morbidity in the NBS compared to the pre-NBS group. Conclusions: Our results confirm that NBS for CF leads to earlier diagnosis and improves nutritional outcomes in early childhood. Although trajectories of structural lung damage at early age were unaffected by NBS, NBS positive CF patients at preschool age displayed less severe pulmonary exacerbations and pathological bacteria in throat swabs.

Background: Allergic diseases are the most prevalent chronic childhood diseases resulting in a massive societal and economic burden for the community and a significant reduction of health-related quality of life (HRQoL) for affected families. The project CHAMP (CHildhood Allergy and tolerance: bioMarkers and Predictors) was funded in 2017 by the German Federal Ministry for Education and Research. Methods: CHAMP investigates the determinants of different allergic diseases from birth to adolescence to identify clinically relevant biomarkers predicting onset, progression, remission and severity. Data on HRQoL and patient’s needs and requirements were collected, supported by the German Asthma and Allergy Association (DAAB). Using validated questionnaires and outpatient visits, eight subprojects analysed allergic diseases in epidemiological or clinical cohorts (more than 2500 children/adolescents), sampling numerous biomaterials to assess omics on several levels. Murine models disentangled underlying mechanisms of early tolerance, translating findings from the cohorts to models and vice versa. Results: The DAAB survey, including 851 participants, showed that 83% were interested in prediction of the course of different current allergic diseases and future manifestation. 86% of participants considered doctor’s specialized training and their education as highly important, over 70% chose research for allergy understanding and prevention as critical. CHAMP addresses these needs. Common SOPs have been established and recruitment is ongoing. Conclusion: The DAAB patient survey confirmed the critical need for translational allergy research. CHAMP envisions to predict onset, tolerance and remission of allergic diseases and to identify disease sub-phenotypes for future development of preventive strategies and novel avenues for therapeutic options.