Chronic Lung DiseaseAPSENCT00783978
Surfactant Disorders and Chronic Lung Disease
An observational study of Chronic Lung Disease, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Interstitial lung diseases (ILD) in children represent a heterogeneous group of rare and not well defined disorders. Genetic abnormalities of surfactant proteins B (SFTPB) and more recently C (SFTPC) have been shown to be related to these pathologies. Read more about this study
- Who is it for?
- Ages 1 month to 17 years
- Conditions the study is for
- Chronic Lung Disease
- What is being tested?
- whole blood sample
- How many people
- 58 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2009to Jun 2012
- 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 1 month to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: French pulmonary units participating to the study
Who may be able to join
- Children from 1 month to 17 years old with radiological alveola-interstitial syndrome and:
- Oxygen weaning failure > 1 month in term newborn babies(>37th week of PCA)or> 40 weeks of PCA in preterm babies
- or
- Chronic respiratory disease define by chronic hypoxia and/or clinical signs of respiratory distress (cough, retractions, crackle)
Who cannot join
- informed consent denied
- absence of social security
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Surfactant Disorders Associated With Chronic Lung Disease in Children.
Interstitial lung diseases (ILD) in children represent a heterogeneous group of rare and not well defined disorders. Genetic abnormalities of surfactant proteins B (SFTPB) and more recently C (SFTPC) have been shown to be related to these pathologies. However, variability in the lung disease phenotype suggests the involvement of other surfactant-associated genes such as ABCA3 (ATP-binding cassette, sub-family A, member, 3). Thus, the aim of this project is: 1) to assess the prevalence of SFTPC mutation in children with chronic lung diseases, 2) to precise clinical and radiological features of children with SFTPC mutation, and 3) to identify environmental or genetic factors that may explain the extreme variability of this disease.
Read the detailed description
The first stage of this project will be to constitute a clinical, radiological, biological database of children (1 moth-17 years) with severe respiratory distress and/or an unexplained chronic ILD. Mutations in SFTPC, SFTPB and ABCA3 will be further identified by sequencing and documented with using the parents blood samples.
- Conditions
- Chronic Lung Disease
- Being tested
- whole blood sample
- Keywords
- Surfactant protein C, Interstitial, lung, Children
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
whole blood sampleOther
2 ml of whole blood for children 5 ml of whole blood for parents that will be used only if 1 mutation is found in children
| Study group | Role | What they receive |
|---|---|---|
| 1 | Children with chronic lung disease Receives: Other: whole blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
To assess the prevalence of SFTPC mutation in children with chronic lung diseases
Measured: At the inclusion visit
Secondary outcomes (2)
To precise clinical and radiological features of children with SFTPC mutation
Measured: At the inclusion visit
To identify environmental or genetic factors that may explain the extreme variability of this disease
Measured: At the inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Nov 2008 (estimated)
- Study startSep 2009
- Primary completionJun 2012
- Study completionJun 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Chronic Lung DiseaseStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 58 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ralph Epaud, MD, Principal investigator, Hopital Trousseau, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00783978
- Sponsor's protocol ID
- AOM 07019
- Acronym
- APSE
- Status last verified
- Nov 2012
- First submitted
- 31 Oct 2008
- Last updated
- 19 Nov 2012
- Results posted
- No
- Data monitoring committee
- No
Publications
Epaud R, Delestrain C, Louha M, Simon S, Fanen P, Tazi A. Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17. No abstract available.
PubMed 24136335Delestrain C, Flamein F, Jonard L, Couderc R, Guillot L, Fanen P, Epaud R. [Lung diseases in children associated with inherited disorders of surfactant metabolism]. Rev Pneumol Clin. 2013 Aug;69(4):183-9. doi: 10.1016/j.pneumo.2013.05.002. Epub 2013 Jul 12. French.
PubMed 23856024Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Bremont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L. Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Hum Mol Genet. 2012 Feb 15;21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7.
PubMed 22068586
Study at a glance
From the registry record, last updated by the sponsor on 19 Nov 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Surfactant Disorders Associated With Chronic Lung Disease in Children.
- ClinicalTrials.gov ID
- NCT00783978
- Acronym / sponsor ID
- APSE / AOM 07019
- Conditions
- Chronic Lung Disease
- Keywords
- Surfactant protein C, Interstitial, lung, Children
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 58 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Sep 2009
- Primary completion
- Jun 2012 (actual)
- Study completion
- Jun 2012 (actual)
- First posted
- 3 Nov 2008 (estimated)
- 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.
Interstitial lung diseases (ILD) in children represent a heterogeneous group of rare and not well defined disorders. Genetic abnormalities of surfactant proteins B (SFTPB) and more recently C (SFTPC) have been shown to be related to these pathologies. However, variability in the lung disease phenotype suggests the involvement of other surfactant-associated genes such as ABCA3 (ATP-binding cassette, sub-family A, member, 3). Thus, the aim of this project is: 1) to assess the prevalence of SFTPC mutation in children with chronic lung diseases, 2) to precise clinical and radiological features of children with SFTPC mutation, and 3) to identify environmental or genetic factors that may explain the extreme variability of this disease.
Detailed description
The first stage of this project will be to constitute a clinical, radiological, biological database of children (1 moth-17 years) with severe respiratory distress and/or an unexplained chronic ILD. Mutations in SFTPC, SFTPB and ABCA3 will be further identified by sequencing and documented with using the parents blood samples.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | Other: whole blood sampleChildren with chronic lung disease |
Who may qualify
- Ages
- 1 month to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- French pulmonary units participating to the study
Key inclusion criteria (4 listed)
- Children from 1 month to 17 years old with radiological alveola-interstitial syndrome and:
- Oxygen weaning failure > 1 month in term newborn babies(>37th week of PCA)or> 40 weeks of PCA in preterm babies
- or
- Chronic respiratory disease define by chronic hypoxia and/or clinical signs of respiratory distress (cough, retractions, crackle)
Key exclusion criteria (2 listed)
- informed consent denied
- absence of social security
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 |
|---|---|---|
| whole blood sample2 ml of whole blood for children 5 ml of whole blood for parents that will be used only if 1 mutation is found in children | Other | 1 |
Primary outcome
To assess the prevalence of SFTPC mutation in children with chronic lung diseases
Time frame: At the inclusion visit
2 secondary outcomes
To precise clinical and radiological features of children with SFTPC mutation
Time frame: At the inclusion visit
To identify environmental or genetic factors that may explain the extreme variability of this disease
Time frame: At the inclusion visit
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 Nov 2012.
- Derived from this study: PubMed 24136335Epaud R, Delestrain C, Louha M, Simon S, Fanen P, Tazi A. Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17. No abstract available.
- Derived from this study: PubMed 23856024Delestrain C, Flamein F, Jonard L, Couderc R, Guillot L, Fanen P, Epaud R. [Lung diseases in children associated with inherited disorders of surfactant metabolism]. Rev Pneumol Clin. 2013 Aug;69(4):183-9. doi: 10.1016/j.pneumo.2013.05.002. Epub 2013 Jul 12. French.
- Derived from this study: PubMed 22068586Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Bremont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L. Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Hum Mol Genet. 2012 Feb 15;21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7.
Related trials for Chronic Lung Disease
Not yet recruitingPhase 1
Phase I Open-Label Safety Trial of Pembrolizumab for Neurological Post- Acute Sequelae of SARS-CoV-2 (PD1-PASC I)
Post-Acute COVID-19 Syndrome
Active, not recruiting
Symptoms and Functions in Patients With COPD and Chronic Bronchitis Switching From CIG to THS
COPD, Smoking
Not yet recruitingPhase 2/3
An Open-Label Extension Study to Evaluate Inhaled Treprostinil SMI in Participants With Pulmonary Hypertension Associated With Chronic Obstructive Pulmonary Disease (PH-COPD)
Pulmonary Hypertension Associated With Chronic Obstructive Pulmonary Disease
Not yet recruiting
The Aim of the Study is to Decipher the Alterations in Signalling Pathways of Skeletal Muscle Stem Cells (Satellite Cells (SCs)) in Individuals With COPD, as Well as to Examine the Effect of Exercise Training on SCs.
COPD (Chronic Obstructive Pulmonary Disease), Sarcopenia in Elderly
Not yet recruitingPhase 2
Study of Treprostinil Administered Via Soft Mist Inhaler (SMI) in Participants With Pulmonary Hypertension Associated With Chronic Obstructive Pulmonary Disease (PH-COPD)
Pulmonary Hypertension Associated With Chronic Obstructive Pulmonary Disease
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.
Ralph Epaud, MD principal investigator
Hopital Trousseau, APHP
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 Chronic Lung Disease, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 4 inclusion and 2 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 Nov 2012. 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 France. 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?
To assess the prevalence of SFTPC mutation in children with chronic lung diseases (time frame: At the inclusion visit). 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 NCT00783978, which also lists 3 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 Nov 2012; AzTrials last refreshed its copy on 6 Nov 2026.