Genetic Causes and Clinical Features of Childhood Interstitial Lung Diseases in China

NCT03869515 | Completed DMC

• 1 other identifier: CHFudanU-02
• Study Type: observational
• Target: 271
• Locations: 1 country
• Sites: 1

Brief Summary

Recruitment of a carefully characterized cohort of chILD patients, to generate a database and biobank via collecting data on chILD in China. Importantly, compatibility with ongoing United States and Europe chILD data base developments will be factored in.

Conditions

Interstitial Lung Diseases of Childhood; Genetic Testing

Keywords

chILD; clinic features; genetic backgrounds; outcomes

Outcome Measures

Primary Outcomes (1)

• Diagnosed with specific cause for chILD

  (yes/no) Specific causes for chILD based on the 2013 Official American Thoracic Society Clinical Practice Guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy

  6 years

Secondary Outcomes (19)

• Having pathogenic gene mutations

  6 years

• Hypoxemia

  6 years

• Deterioration of pulmonary imaging

  6 years

• Change from baseline in lung function on the spirometry forced expiratory

  6 years

• Abnormal autoantibody at baseline when diagnosed with chILD

  6 years

Study Arms (2)

chILD

The chILD syndrome exists when a child with DLD has had the common causes of DLD excluded as the primary diagnosis and has at least three of the following four criteria: (1) respiratory symptoms (e.g., cough, rapid and/or difficult breathing, or exercise intolerance); (2) respiratory signs (e.g., resting tachypnea, adventitious sounds, retractions, digital clubbing, failure to thrive, or respiratory fail- ure); (3) hypoxemia; and (4) diffuse abnormalities on CXR or a CT scan.

Other: No intervention

Control

Healthy subjects were recruited from participants of an ongoing prospective birth cohort study: 'The Pulmonary Function Assessment for Bronchopulmonary Dysplasia (BPD) and Recurrent Lower Respiratory Tract Infections (LRTI) in Chinese Children'. Exclusion criteria were major birth defects, upper airway pathology, cardiac or neurological diseases, failure to thrive, a history of severe respiratory disease with intensive care unit admission, previous physician-diagnosed LRTI, gestational age (GA) \<37 weeks or birthweight (BW) \<2.5 kg.

Interventions

No intervention OTHER

It's an observational study, so no intervention will be carried out.

chILD

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

all children under 18 years old, hospitalized in Children's Hospital of Fudan University during Mar.1, 2019 and Dec.30, 2025, diagnosed with chILD , accepting empirical treatments

You may qualify if:

• The chILD syndrome exists when a child with DLD has had the common causes of DLD excluded as the primary diagnosis and has at least three of the following four criteria: (1) respiratory symptoms (e.g., cough, rapid and/or difficult breathing, or exercise intolerance);(2) respiratory signs (e.g., resting tachypnea, adventitious sounds, retractions, digital clubbing, failure to thrive, or respiratory fail- ure); (3) hypoxemia; and (4) diffuse abnormalities on CXR or a CT scan.

You may not qualify if:

• These include cystic fibrosis, congenital or acquired immunodeficiency, congenital heart disease, bronchopulmonary dysplasia, pulmonary infection, primary ciliary dyskinesia presenting with newborn respiratory distress and recurrent aspiration.

Sponsors & Collaborators

• Children's Hospital of Fudan University: lead

Study Sites (1)

Children's hospital of Fudan University

Shanghai, Shanghai Municipality, 201102, China

Location

Related Publications (5)

• Hime NJ, Zurynski Y, Fitzgerald D, Selvadurai H, Phu A, Deverell M, Elliott EJ, Jaffe A. Childhood interstitial lung disease: A systematic review. Pediatr Pulmonol. 2015 Dec;50(12):1383-92. doi: 10.1002/ppul.23183. Epub 2015 Apr 30.

  PMID: 25931270 BACKGROUND

• Bromley S, Vizcaya D. Pulmonary hypertension in childhood interstitial lung disease: A systematic review of the literature. Pediatr Pulmonol. 2017 May;52(5):689-698. doi: 10.1002/ppul.23632. Epub 2016 Oct 23.

  PMID: 27774750 BACKGROUND

• Eldridge WB, Zhang Q, Faro A, Sweet SC, Eghtesady P, Hamvas A, Cole FS, Wambach JA. Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism. J Pediatr. 2017 May;184:157-164.e2. doi: 10.1016/j.jpeds.2017.01.017. Epub 2017 Feb 16.

  PMID: 28215425 BACKGROUND

• Thacker PG, Vargas SO, Fishman MP, Casey AM, Lee EY. Current Update on Interstitial Lung Disease of Infancy: New Classification System, Diagnostic Evaluation, Imaging Algorithms, Imaging Findings, and Prognosis. Radiol Clin North Am. 2016 Nov;54(6):1065-1076. doi: 10.1016/j.rcl.2016.05.012. Epub 2016 Aug 12.

  PMID: 27719976 BACKGROUND

• Kurland G, Deterding RR, Hagood JS, Young LR, Brody AS, Castile RG, Dell S, Fan LL, Hamvas A, Hilman BC, Langston C, Nogee LM, Redding GJ; American Thoracic Society Committee on Childhood Interstitial Lung Disease (chILD) and the chILD Research Network. An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med. 2013 Aug 1;188(3):376-94. doi: 10.1164/rccm.201305-0923ST.

  PMID: 23905526 RESULT

Study Officials

• Liling Qian, MD

  Children's Hospital of Fudan University

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 20, 2019
• First Posted: March 11, 2019
• Study Start: March 25, 2019
• Primary Completion: March 15, 2026
• Study Completion: March 15, 2026
• Last Updated: March 19, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Time Frame: 2019-2025
• Access Criteria: Study Protocol Statistical Analysis Plan (SAP) Informed Consent Form (ICF) Clinical Study Report (CSR) Analytic Code

Locations

CN (1)