Interstitial Lung Diseases of ChildhoodNCT03869515
Genetic Causes and Clinical Features of Childhood Interstitial Lung Diseases in China
An observational study of Interstitial Lung Diseases of Childhood and Genetic Testing, run by Children's Hospital of Fudan University at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Interstitial Lung Diseases of Childhood, Genetic Testing
- How many people
- 271 participants
- Where
- 1 siteChina
- Study dates
- 25 Mar 2019to 15 Mar 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
China1 site
Children's hospital of Fudan University
Shanghai, Shanghai Municipality, 201102
About this study
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.
Read the 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.
- Being tested
- No intervention
- Keywords
- chILD, clinic features, genetic backgrounds, outcomes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
It's an observational study, so no intervention will be carried out.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 6 years
Secondary outcomes (19)
Having pathogenic gene mutations
(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.
Measured: 6 years
Hypoxemia
(yes/no) Change of PO2 in arterial blood gases from baseline when diagnosed with chILD
Measured: 6 years
Deterioration of pulmonary imaging
(yes/no) Change of clinical judgment on pulmonary imaging from baseline if X-ray or CT were done
Measured: 6 years
Change from baseline in lung function on the spirometry forced expiratory
Volume at one second (FEV1) in Liter
Measured: 6 years
Abnormal autoantibody at baseline when diagnosed with chILD
(yes/ no)
Measured: 6 years
Pathological change of lung biopsy
(yes/no) Clinical judgment on histopathological categorization of lung biopsy when diagnosed with chILD
Measured: 6 years
Deterioration of pulmonary arterial hypertension
(yes/no) Change of pulmonary artery pressure from baseline in echocardiagraphy
Measured: 6 years
Change of BALF(bronchoalveolar lavage fluid)
(yes/no) Cytology analysis on BALF at the baseline when diagnosed with chILD
Measured: 6 years
Survival
(yes/no)
Measured: 1 years
Survival
(yes/no)
Measured: 2 years
Survival
Five-year
Measured: 5 years
Abnormal thyroid hormone at baseline when diagnosed with chILD
(yes/no)
Measured: 6 years
Abnormal myocardial zymogram at baseline when diagnosed with chILD
(yes/no)
Measured: 6 years
Abnormal serum immunoglobulin at baseline when diagnosed with chILD
(yes/no)
Measured: 6 years
Abnormal serum creatinine at baseline when diagnosed with chILD
(yes/no)
Measured: 6 years
Abnormal blood urea nitrogen at baseline when diagnosed with chILD
(yes/no)
Measured: 6 years
Abnormal alanine transferase at baseline when diagnosed with chILD
(yes/no)
Measured: 6 years
Abnormal allergen at baseline when diagnosed with chILD
(yes/no)
Measured: 6 years
Recurrent hospitalization
yes:Hospitalization more than twice per year after diagnosed with chILD; no:Hospitalization less than three times per year after diagnosed with chILD;
Measured: 1 year after diagnosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Mar 2019
- Study start25 Mar 2019
- Primary completion15 Mar 2026
- Study completion15 Mar 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Interstitial Lung Diseases of ChildhoodStudies of the same condition, open and under way.
- More trials run by Children's Hospital of Fudan UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 271 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Fudan University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Liling Qian, MD, Study chair, Children's Hospital of Fudan University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03869515
- Sponsor's protocol ID
- CHFudanU-02
- Status last verified
- Mar 2026
- First submitted
- 20 Feb 2019
- Last updated
- 19 Mar 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Genetic Causes, Clinical Features, Management of Childhood Interstitial Lung Diseases in China
Publications
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.
PubMed 25931270Bromley 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.
PubMed 27774750Eldridge 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.
PubMed 28215425Thacker 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.
PubMed 27719976Kurland 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.
PubMed 23905526
Study at a glance
From the registry record, last updated by the sponsor on 19 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Causes and Clinical Features of Childhood Interstitial Lung Diseases in China
- ClinicalTrials.gov ID
- NCT03869515
- Acronym / sponsor ID
- CHFudanU-02
- Keywords
- chILD, clinic features, genetic backgrounds, outcomes
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 271 participants (actual)
- Lead sponsor
- Children's Hospital of Fudan UniversityUniversity, hospital or other
- Study start
- 25 Mar 2019 (actual)
- Primary completion
- 15 Mar 2026 (actual)
- Study completion
- 15 Mar 2026 (actual)
- First posted
- 11 Mar 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| chILD | – | Other: No interventionThe 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. |
| 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. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionIt's an observational study, so no intervention will be carried out. | Other | chILD |
Primary outcome
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
19 secondary outcomes
Having pathogenic gene mutations
Time frame: 6 years
Hypoxemia
Time frame: 6 years
Deterioration of pulmonary imaging
Time frame: 6 years
Change from baseline in lung function on the spirometry forced expiratory
Time frame: 6 years
Abnormal autoantibody at baseline when diagnosed with chILD
Time frame: 6 years
Pathological change of lung biopsy
Time frame: 6 years
Deterioration of pulmonary arterial hypertension
Time frame: 6 years
Change of BALF(bronchoalveolar lavage fluid)
Time frame: 6 years
Survival
Time frame: 1 years
Survival
Time frame: 2 years
Survival
Time frame: 5 years
Abnormal thyroid hormone at baseline when diagnosed with chILD
Time frame: 6 years
Abnormal myocardial zymogram at baseline when diagnosed with chILD
Time frame: 6 years
Abnormal serum immunoglobulin at baseline when diagnosed with chILD
Time frame: 6 years
Abnormal serum creatinine at baseline when diagnosed with chILD
Time frame: 6 years
Abnormal blood urea nitrogen at baseline when diagnosed with chILD
Time frame: 6 years
Abnormal alanine transferase at baseline when diagnosed with chILD
Time frame: 6 years
Abnormal allergen at baseline when diagnosed with chILD
Time frame: 6 years
Recurrent hospitalization
Time frame: 1 year after diagnosis
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Mar 2026.
- Background: PubMed 25931270Hime 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.
- Background: PubMed 27774750Bromley 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.
- Background: PubMed 28215425Eldridge 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.
- Background: PubMed 27719976Thacker 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.
- Results publication: PubMed 23905526Kurland 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.
- Individual participant dataSharing planned: Yes. Genetic Causes, Clinical Features, Management of Childhood Interstitial Lung Diseases in China
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Liling Qian, MD study chair
Children's Hospital of Fudan University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Interstitial Lung Diseases of Childhood and Genetic Testing, run by Children's Hospital of Fudan University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnosed with specific cause for chILD (time frame: 6 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03869515, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Mar 2026.