An observational study in Cystic Fibrosis Lung Disease, sponsored by Heidelberg University. Recruiting at 4 sites in Germany. Per ClinicalTrials.gov, last updated 2023-11-29.
Sponsored by Heidelberg University · Observational
The purpose of this study is to further characterize early CF lung disease in newborns, infants and toddlers with cystic fibrosis (CF).
Cystic fibrosis (CF) is the most common lethal genetic multisystem disease in Germany. Although life expectancy increased over the last decades, most of the CF patients die in young adulthood due to chronic CF lung disease with respiratory failure. CF lung disease is caused by a disturbed transport of salt and water by airway epithelia and dehydration of airway surfaces as a result of the underlying genetic defect in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gen. Up to now, no causal therapies for the majority of patients with CF are available. Little is known about onset and natural course as well as influencing factors of CF lung disease. Therefore, the first aim of this prospective, multicenter, uncontrolled, non-randomized, explorative longitudinal study is characterization of the onset and early course of CF lung disease. For this reason we will primarily include patients diagnosed by CF newborn screening (CF-NBS) or for any other reason in the first four months of life (early diagnosed, ED). In a second step we will compare data from these patients to those diagnosed clinically later in life (late diagnosed, LD). This will allow us to investigate the effect of early diagnosis and start of therapy. Starting at diagnosis, we will use data from annual routine check-ups (imaging like chest MRI, pulmonary function tests, microbiology from swabs and sputum, laboratory values, anthropometry) as well as data from a facultative, study-related bronchoscopy with lavage (microbiology, inflammation and immunology) for correlation with the course of CF lung disease (generation of hypotheses). Further study-related investigations are monthly telephone interviews on bronchopulmonary symptoms by a study nurse on the basis of a questionnaire and quarterly assessment of health-related quality of life on the basis of a validated questionnaire.
We expect to gain a deeper insight into onset and early course of CF lung disease from the results of this study. So far, there is no trial that investigated the different aspects of CF lung disease (function, morphology, infectiology, inflammation) complementary in a longitudinal setting. We assume that knowledge on the natural history of CF lung disease in the vulnerable phase of early childhood has a great impact on the future development of new therapies (from symptomatic to causal). This shall lead to a further improvement in life expectancy and quality of life of patients with CF.
1,581 studies on the registry are indexed under Cystic Fibrosis; 190 are open to participants now.
This study's planned enrollment of 200 is above the median of 85 across 482 observational studies indexed under Cystic Fibrosis.
Browse Cystic Fibrosis studies →Heidelberg University is the lead sponsor of 279 studies on the registry; 17 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with CF diagnosed in the first 4 months of life (corrected age of 4 months in preterms) not before January 1st, 2006 build up the early diagnosed (ED) group. Early identification can be achieved by newborn screening, clinical diagnosis (e.g. patients with meconium ileus), due to positive family history or prenatal diagnosis. Patients with CF diagnosed after the first 4 months of life and after January 1st, 2006, are included as a comparison group with clinically diagnosed patients (late diagnosed, LD). Both groups (ED and LD) are investigated after the same investigational plan with all investigations that are part of the annual check-up and additional, study-related monthly telephone interviews on bronchopulmonary symptoms, quarterly assessment of QoL and voluntarily yearly bronchoscopy with broncho-alveolar lavage.
Age and mode of diagnosis:
Exclusion Criteria:
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:
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)
Children diagnosed with CF in the first 4 months of life.
Children diagnosed with CF after the first 4 months of life.
Proportion with morphological and/or perfusion changes due to CF lung disease after chest MRI score in both groups
Time frame: At age of 1, 2, 3, ...., 10 years of age
Proportion of patients with impairments in pulmonary function tests (e.g. multiple breath washout (MBW)) in both groups
Time frame: At age of 1, 2, 3, ...., 10 years of age
Rate of protocol-defined pulmonary exacerbations in both groups (ED vs. LD) that are necessitating an antibiotic therapy orally, intravenously or per inhalation
Time frame: At age of 1, 2, 3, ...., 10 years of age
Spontaneous development of infection or spectrum of pathogens, respectively, in throat and nose swabs as well as other airway secretions from routine diagnostics and if applicable bronchoalveolar lavage fluid (BALF)
Time frame: At age of 1, 2, 3, ...., 10 years of age
From the patients in whom PsA or other CF pathogens could not be isolated at the beginning of their participation, comparison of the portion of patients with a positive culture during participation in both groups (ED and LD)
Time frame: At age of 1, 2, 3, ...., 10 years of age
Time to first detection of a CF pathogen in both groups
Time frame: At age of 1, 2, 3, ...., 10 years of age
Time to first pulmonary exacerbation in both groups
Time frame: At age of 1, 2, 3, ...., 10 years of age
Portion of patients with increased biochemical inflammatory markers in both groups and magnitude of elevation
Time frame: At age of 1, 2, 3, ...., 10 years of age
Frequency of symptoms from monthly telephone interviews in both groups
Time frame: At age of 1, 2, 3, ...., 10 years of age
Health-related quality of life in both groups quarterly via Cystic Fibrosis Questionnaire (CFQ)
Time frame: At age of 1, 2, 3, ...., 10 years of age
Development of body weight, body height, ideal weight-for-height (IWFH), Body-Mass-Index (BMI), respiratory rate and oxygen saturation at room air in both groups
Time frame: At age of 1, 2, 3, ...., 10 years of age
Proportion with morphological changes due to CF lung disease after modified Chrispin-Norman Score for assessment of chest X-ray in both groups
Time frame: At age of 1, 2, 3, ...., 10 years of age
Magnitude and severity of alterations typical for CF by assessment with chest MRI and X-ray score in both groups
Time frame: At age of 1, 2, 3, ...., 10 years of age
Magnitude of impairment of pulmonary function test in both groups
Time frame: At age of 1, 2, 3, ...., 10 years of age
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Heidelberg University