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

March 17, 2026 updated by: Children's Hospital of Fudan University
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

Children Interstitial lung disease (chILD) is a heterogeneous group of rare respiratory disorders of known and unknown etiologies that are mostly chronic and associated with high morbidity and mortality. ILD are characterized by inflammatory and fibrotic changes of the lung parenchyma structure that typically result in the presence of diffuse infiltrates on lung imaging, and abnormal pulmonary function tests with evidence of a restrictive ventilatory defect and/or impaired gas exchange.

Genetic factors are important contributors to chILD. Genetic variations have been mainly described in genes encoding (or interacting with) the surfactant proteins (SP): SP-C (SFTPC) and the ATP-binding cassette-family A-member 3 (ABCA3) (ABCA3), and less frequently in the genes encoding NKX homeobox 2 (NKX2)-1 (NKX2-1), SP-B (SFTPB), SP-A (SFTPA) ,MARS and other genes.

To investigate genetic defects and clinical features of chILD in China, wide recruitment and interdisciplinary critical peer review of all diagnoses from discharge diagnosis coding system of Children's Hospital of Fudan University will be included. Each case will be given a diagnosis independently; if no firm diagnosis is possible, the investigators will review the case periodically as new information becomes available. During the first year of the study, clinicians´ decisions according to clinical practice and outcomes will be independently monitored and assessed.

The investigators will systematically optimize and clarify the relative weight of a large spectrum of single and composite clinical outcomes, sequential limited chest CT (to minimise radiation exposure), lung function testing, histopathological categorization of lung biopsies, serum markers and genetic tests. Variability, reproducibility and the effects of training on reading images will be investigated.

This project will analyse in detail treatment and outcomes within and between subjects using data collected. Analysis of the collected data will support the definition of trial protocols planned in the future.

Study Type

Observational

Enrollment (Actual)

271

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
    • Shanghai Municipality
      • Shanghai, Shanghai Municipality, China, 201102
        • Children's Hospital of Fudan University

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 18 years (Child, Adult)

Accepts Healthy Volunteers

Yes

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

Description

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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
It's an observational study, so no intervention will be carried out.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Diagnosed with specific cause for chILD
Time Frame: 6 years
(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 Outcome Measures

Outcome Measure
Measure Description
Time Frame
Having pathogenic gene mutations
Time Frame: 6 years
(yes/no) Genetic variations have been mainly described in genes encoding (or interacting with) the surfactant proteins (SP): SP-C (SFTPC) and the ATP-binding cassette-family A-member 3 (ABCA3) (ABCA3), and less frequently in the genes encoding NKX homeobox 2 (NKX2)-1 (NKX2-1), SP-B (SFTPB), SP-A (SFTPA) ,MARS and other genes.
6 years
Hypoxemia
Time Frame: 6 years
(yes/no) Change of PO2 in arterial blood gases from baseline when diagnosed with chILD
6 years
Deterioration of pulmonary imaging
Time Frame: 6 years
(yes/no) Change of clinical judgment on pulmonary imaging from baseline if X-ray or CT were done
6 years
Change from baseline in lung function on the spirometry forced expiratory
Time Frame: 6 years
Volume at one second (FEV1) in Liter
6 years
Abnormal autoantibody at baseline when diagnosed with chILD
Time Frame: 6 years
(yes/ no)
6 years
Pathological change of lung biopsy
Time Frame: 6 years
(yes/no) Clinical judgment on histopathological categorization of lung biopsy when diagnosed with chILD
6 years
Deterioration of pulmonary arterial hypertension
Time Frame: 6 years
(yes/no) Change of pulmonary artery pressure from baseline in echocardiagraphy
6 years
Change of BALF(bronchoalveolar lavage fluid)
Time Frame: 6 years
(yes/no) Cytology analysis on BALF at the baseline when diagnosed with chILD
6 years
Survival
Time Frame: 1 years
(yes/no)
1 years
Survival
Time Frame: 2 years
(yes/no)
2 years
Survival
Time Frame: 5 years
Five-year
5 years
Abnormal thyroid hormone at baseline when diagnosed with chILD
Time Frame: 6 years
(yes/no)
6 years
Abnormal myocardial zymogram at baseline when diagnosed with chILD
Time Frame: 6 years
(yes/no)
6 years
Abnormal serum immunoglobulin at baseline when diagnosed with chILD
Time Frame: 6 years
(yes/no)
6 years
Abnormal serum creatinine at baseline when diagnosed with chILD
Time Frame: 6 years
(yes/no)
6 years
Abnormal blood urea nitrogen at baseline when diagnosed with chILD
Time Frame: 6 years
(yes/no)
6 years
Abnormal alanine transferase at baseline when diagnosed with chILD
Time Frame: 6 years
(yes/no)
6 years
Abnormal allergen at baseline when diagnosed with chILD
Time Frame: 6 years
(yes/no)
6 years
Recurrent hospitalization
Time Frame: 1 year after diagnosis
yes:Hospitalization more than twice per year after diagnosed with chILD; no:Hospitalization less than three times per year after diagnosed with chILD;
1 year after diagnosis

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital of Fudan University

Investigators

  • Study Chair: Liling Qian, MD, Children's Hospital of Fudan University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 25, 2019

Primary Completion (Actual)

March 15, 2026

Study Completion (Actual)

March 15, 2026

Study Registration Dates

First Submitted

February 20, 2019

First Submitted That Met QC Criteria

March 8, 2019

First Posted (Actual)

March 11, 2019

Study Record Updates

Last Update Posted (Actual)

March 19, 2026

Last Update Submitted That Met QC Criteria

March 17, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHFudanU-02

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Genetic Causes, Clinical Features, Management of Childhood Interstitial Lung Diseases in China

IPD Sharing Time Frame

2019-2025

IPD Sharing Access Criteria

Study Protocol Statistical Analysis Plan (SAP) Informed Consent Form (ICF) Clinical Study Report (CSR) Analytic Code

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • SAP
  • ICF
  • ANALYTIC_CODE
  • CSR

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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