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

NCT02270476 | Recruiting

• 1 other identifier: UKH-TRACK-1
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 4

Brief Summary

The purpose of this study is to further characterize early CF lung disease in newborns, infants and toddlers with cystic fibrosis (CF).

Conditions

Cystic Fibrosis Lung Disease

Keywords

Cystic Fibrosis; Infant; Toddler; Children; Newborn screening

Outcome Measures

Primary Outcomes (2)

• Proportion with morphological and/or perfusion changes due to CF lung disease after chest MRI score in both groups

  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

  At age of 1, 2, 3, ...., 10 years of age

Secondary Outcomes (12)

• Rate of protocol-defined pulmonary exacerbations in both groups (ED vs. LD) that are necessitating an antibiotic therapy orally, intravenously or per inhalation

  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)

  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)

  At age of 1, 2, 3, ...., 10 years of age

• Time to first detection of a CF pathogen in both groups

  At age of 1, 2, 3, ...., 10 years of age

• Time to first pulmonary exacerbation in both groups

  At age of 1, 2, 3, ...., 10 years of age

Study Arms (2)

Early diagnosed (ED)

Children diagnosed with CF in the first 4 months of life.

Late diagnosed (LD)

Children diagnosed with CF after the first 4 months of life.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Heidelberg University: lead
• German Center for Lung Research: collaborator

Study Sites (4)

University Children's Hospital Heidelberg, Cystic Fibrosis Centre

Heidelberg, Baden-Wurttemberg, 69120, Germany

RECRUITING

University Hospital Gießen and Marburg GmbH

Giessen, Hesse, 35392, Germany

RECRUITING

Medizinische Hochschule Hannover

Hanover, Lower Saxony, 30625, Germany

RECRUITING

University Children's Hospital Schleswig-Holstein

Lübeck, Schleswig-Holstein, 23538, Germany

RECRUITING

Related Publications (5)

• Wielputz MO, Stahl M, Triphan SMF, Wucherpfennig L, Leutz-Schmidt P, Gestewitz S, Steinke E, Graeber SY, Kauczor HU, Eichinger M, Puderbach MU, Alrajab A, Schenk JP, Sommerburg O, Mall MA. Longitudinal Magnetic Resonance Imaging of Changes in Lung Morphology and Perfusion in Children with Cystic Fibrosis from Infancy through Adolescence. Ann Am Thorac Soc. 2025 Jan;22(1):93-103. doi: 10.1513/AnnalsATS.202404-396OC.

  PMID: 39255452 DERIVED

• Steinke E, Sommerburg O, Graeber SY, Joachim C, Labitzke C, Nissen G, Ricklefs I, Rudolf I, Kopp MV, Dittrich AM, Mall MA, Stahl M. TRACK-CF prospective cohort study: Understanding early cystic fibrosis lung disease. Front Med (Lausanne). 2023 Jan 6;9:1034290. doi: 10.3389/fmed.2022.1034290. eCollection 2022.

  PMID: 36687447 DERIVED

• Wucherpfennig L, Wuennemann F, Eichinger M, Schmitt N, Seitz A, Baumann I, Stahl M, Graeber SY, Chung J, Schenk JP, Alrajab A, Kauczor HU, Mall MA, Sommerburg O, Wielputz MO. Longitudinal Magnetic Resonance Imaging Detects Onset and Progression of Chronic Rhinosinusitis from Infancy to School Age in Cystic Fibrosis. Ann Am Thorac Soc. 2023 May;20(5):687-697. doi: 10.1513/AnnalsATS.202209-763OC.

  PMID: 36548543 DERIVED

• Stahl M, Steinke E, Graeber SY, Joachim C, Seitz C, Kauczor HU, Eichinger M, Hammerling S, Sommerburg O, Wielputz MO, Mall MA. Magnetic Resonance Imaging Detects Progression of Lung Disease and Impact of Newborn Screening in Preschool Children with Cystic Fibrosis. Am J Respir Crit Care Med. 2021 Oct 15;204(8):943-953. doi: 10.1164/rccm.202102-0278OC.

  PMID: 34283704 DERIVED

• Stahl M, Wielputz MO, Graeber SY, Joachim C, Sommerburg O, Kauczor HU, Puderbach M, Eichinger M, Mall MA. Comparison of Lung Clearance Index and Magnetic Resonance Imaging for Assessment of Lung Disease in Children with Cystic Fibrosis. Am J Respir Crit Care Med. 2017 Feb 1;195(3):349-359. doi: 10.1164/rccm.201604-0893OC.

  PMID: 27575911 DERIVED

MeSH Terms

Conditions

Cystic Fibrosis

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases

Study Officials

• Marcus A Mall, MD

  University Hospital Heidelberg

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marcus A Mall, MD

CONTACT

+49 6221 56 4502; Marcus.Mall@med.uni-heidelberg.de

Mirjam Stahl, MD

CONTACT

+49 6221 56 37049; Mirjam.Stahl@med.uni-heidelberg.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PI and Leader of Junior Research Group

Study Record Dates

• First Submitted: October 16, 2014
• First Posted: October 21, 2014
• Study Start: December 1, 2011
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: November 29, 2023

Record last verified: 2023-11

Locations

DE (4)