Observing the progression of cystic fibrosis lung disease in young patients

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

This study looks at how lung disease develops in young children with cystic fibrosis to see if early diagnosis and treatment make a difference.

Quick facts

• Study type: Observational
• Enrollment: 200 (estimated)
• Sex: All
• Sponsor: Heidelberg University (Academic / other)
• Locations: 4 sites (Heidelberg, Baden-Wurttemberg and 3 other locations)
• Trial ID: NCT02270476 on ClinicalTrials.gov

What this trial studies

This observational study aims to characterize the early lung disease associated with cystic fibrosis (CF) in newborns, infants, and toddlers. It will include patients diagnosed through newborn screening or other means within the first four months of life, and compare their data with those diagnosed later. The study will collect data from routine check-ups, including imaging, pulmonary function tests, and microbiological assessments, to understand the onset and natural progression of CF lung disease. The goal is to identify factors influencing the disease course and the impact of early diagnosis and treatment.

Who should consider this trial

Good fit: Ideal candidates are newborns, infants, and toddlers diagnosed with cystic fibrosis, particularly those identified through newborn screening.

Not a fit: Patients diagnosed with cystic fibrosis after the age of four months may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of cystic fibrosis lung disease in young patients.

How similar studies have performed: While there have been studies on cystic fibrosis, this specific longitudinal observational approach focusing on early diagnosis and its effects is relatively novel.

Eligibility criteria

Inclusion Criteria:

1. 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.
2. 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.

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:

1. Preterms \<30th week of gestation
2. Longer period of mechanical ventilation in first 3 months of life
3. A significant medical disease or condition other than CF likely to interfere with the child's ability to complete the entire protocol
4. Previous major surgery except for meconium ileus or atresia of the intestine
5. Other major organ dysfunction, excluding pancreatic or hepatic dysfunction or another condition due to CF
6. Physical findings that would compromise the safety of the subject or the quality of the study data as determined by investigator
7. Chronic lung disease other than CF (e.g. bronchopulmonary dysplasia)
8. 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

Where this trial is running

Heidelberg, Baden-Wurttemberg and 3 other locations

• University Children's Hospital Heidelberg, Cystic Fibrosis Centre — Heidelberg, Baden-Wurttemberg, Germany (Recruiting)
• University Hospital Gießen and Marburg GmbH — Giessen, Hesse, Germany (Recruiting)
• Medizinische Hochschule Hannover — Hanover, Lower Saxony, Germany (Recruiting)
• University Children's Hospital Schleswig-Holstein — Lübeck, Schleswig-Holstein, Germany (Recruiting)

Study contacts

• Principal investigator: Marcus A Mall, MD — University Hospital Heidelberg
• Study coordinator: Marcus A Mall, MD

Conditions Cystic Fibrosis Lung Disease; Cystic Fibrosis; Infant; Toddler; Children; Newborn screening