Foetus With Congenital Pulmonary MalformationMALFPULMNCT02352207
Risk Factors of Neonatal Respiratory Distress for Newborns With Prenatally Diagnosed Congenital Lung Malformations
An observational study of Foetus With Congenital Pulmonary Malformation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
This research focuses on lung malformations detected in fetuses during prenatal ultrasound exams. Pathogenic mechanisms of these rare malformations are poorly understood. Improved knowledge is needed, to give families better information, and to better standardize treatment decisions The main goal is to better predict… Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Foetus With Congenital Pulmonary Malformation
- What is being tested?
- identification of a pulmonary malformation in the fetus
- How many people
- 436 participants
- Where
- 1 siteFrance
- Study dates
- 17 Mar 2015to 10 Mar 2021
- 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 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Pregnant women referred to a Center of Prenatal Diagnosis, because of the identification of a pulmonary malformation in the fetus
Who may be able to join
- Prenatal identification of a congenital pulmonary malformation (hyperechoic and/or cystic pulmonary lesion)
- consent of the mother for participation to the study
Who cannot join
- Absence of consent for participation
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Prospective Identification of Predictors of Neonatal Respiratory Distress for Newborns With Prenatally Diagnosed Congenital Lung Malformations : A Population-based, Nationally Representative Study
This research focuses on lung malformations detected in fetuses during prenatal ultrasound exams. Pathogenic mechanisms of these rare malformations are poorly understood. Improved knowledge is needed, to give families better information, and to better standardize treatment decisions The main goal is to better predict neonatal complications associated with these malformations, by identifying key predictive markers during the fetal period.
To achieve this objective, it is planned to include 400 pregnant women with prenatal diagnosis of pulmonary malformation in 45 health centers in France. This is the largest study on this topic at the international level.
Read the detailed description
The main objective of the study is to develop a prognostic model for estimating the risk of neonatal respiratory distress in children with prenatally diagnosed congenital pulmonary malformation.
The study will be offered to all pregnant women referred to a Center for Prenatal Diagnosis (CPD), due to the identification of a congenital lung malformations in the fetus. This study does not induce any changes in clinical and therapeutic monitoring proposed by the team in charge of the mother. At inclusion, and at each prenatal evaluation, prenatal parameters are entered in an e-CRF. In an effort to minimize any potential intra- and interoperator variability in malformation measurements over time, this study includes a standardized and centralized evaluation of ultrasound and MRI (if available) acquisitions of volume measurements. When the place of delivery is determined, a contact is made before birth with the teams (maternity, neonatology, intensive care unit), so that neonatal data are also collected prospectively. A phone call to the family is planned for the end of the first postnatal month, to identify any respiratory event that would have occurred between returning home after childbirth and the first month.
The routine follow-up of these children is then ensured in accordance with current national recommendations, in conjunction with the reference centers for rare respiratory diseases in children (28 university hospitals, spread across all regions of France). A telephone survey every 6 months with the referring physician in this specialized center or, alternatively, with the family, will collect clinical outcome until the age of 2 years. If a surgical intervention is planned within this interval, consent to collect part of the surgical specimen for research purposes will be solicited. This tissue will be immediately frozen at -80 ° C, to allow laser microdissection and DNA extraction from epithelial cells lining the malformation (Inserm U955). Frozen tissue will be conserved at the biobank of Necker-Enfants Malades.
- Being tested
- identification of a pulmonary malformation in the fetus
- Keywords
- Neonatal respiratory distress, prenatal lung malformation, KRAS mutation, pregnant woman
- Medical subject headings
- Pulmonary Atelectasis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
identification of a pulmonary malformation in the fetusOther
| Study group | Role | What they receive |
|---|---|---|
| identification of a pulmonary malformation in the fetus | pregnant women referred to a prenatal Center, because of the identification of a pulmonary malformation in the fetus Receives: Other: identification of a pulmonary malformation in the fetus |
What is being measured
The primary outcome is the main question the study is designed to answer.
Respiratory distress
Respiratory distress at birth is defined by a breathing frequency > 60/min, or by the presence of chest retraction signs (Silverman score greater than or equal to 2). At least one of these signs must be persistent at 15' of life
Measured: At Birth of the child
Secondary outcomes (17)
Necessity of antenatal treatment
Thoracic drainage, amniotic drainage, corticosteroids
Measured: At Birth of the child
Therapeutic abortion - fetal death
Measured: At Birth of the child
Severe respiratory distress
Severe respiratory distress at birth will be defined by the presence of at least one of the following parameters: persistent need at 15' of supplemental oxygen; Persistent need at 15' for a ventilatory support (non-invasive or invasive); neonatal death
Measured: At Birth of the child
Identification of KRAS mutation
PCR analysis of known K-RAS mutations in codons 12 and 13
Measured: 2 years
Level in delta Forskoline/IBMX Short Circuit Current (µA/cm2)
CFTR activity evaluation
Measured: 2 years
CFTR gene expression
quantitative PCR
Measured: 2 years
CFTR protein expression
immunohistochemistry
Measured: 2 years
Basal short circuit current : Isc Basal
Measured: 2 years
Effects of other potentiators on CFTR activity : ΔGenistein, ΔVX-770
Measured: 2 years
Inhibition of CFTR (inh-172) : ΔInh-172
Measured: 2 years
Response to ENaC inhibitors : ΔAmiloride, Δbenzamil
Measured: 2 years
Activation of Calcium Dependant Channels : ΔUTP
Measured: 2 years
Inhibition of SLC26A9 : ΔGlyH-101
Measured: 2 years
Response to inhibitors of basolateral K+ secretion : ΔBarium ; ΔChromanol
Measured: 2 years
Secretion of HCO3- in response to forskoline : Δ HCO3- primary culture
Measured: 2 years
Gene expression of other channels : ENaC, SLC26A9, CaCC, KVLQT1 and KCa3.1
quantitative PCR
Measured: 2 years
Protein expression of other channels : ENaC, SLC26A9, CaCC, KVLQT1 and KCa3.1
immunohistochemistry
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Feb 2015 (estimated)
- Study start17 Mar 2015
- Primary completion30 Nov 2018
- Study completion10 Mar 2021
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 Foetus With Congenital Pulmonary MalformationStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 436 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Laurent SALOMON, MD, PhD, Study director, Hospital Necker - Enfants Malades
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02352207
- Sponsor's protocol ID
- NI13005
- Acronym
- MALFPULM
- Status last verified
- Oct 2025
- First submitted
- 5 Jan 2015
- Last updated
- 20 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
Publications
Delacourt C, Bertille N, Salomon LJ, Rahshenas M, Benachi A, Bonnard A, Choupeaux L, Fouquet V, Goua V, Hameury F, Hervieux E, Jouannic JM, Khen-Dunlop N, Le Bouar G, Massardier J, Roditis L, Rosenblatt J, Sartor A, Thong-Vanh C, Lelong N, Khoshnood B; , for the MALFPULM study group; members of the MALFPULM study group:. Predicting the risk of respiratory distress in newborns with congenital pulmonary malformations. Eur Respir J. 2022 Feb 3;59(2):2100949. doi: 10.1183/13993003.00949-2021. Print 2022 Feb.
PubMed 34266941Delacourt C, Bertille N, Salomon LJ, Benachi A, Henry E, Massardier J, Mottet N, Rosenblatt J, Sartor A, Thong-Vanh C, Valat-Rigot AS, Winer N, Lelong N, Khoshnood B; Prenatal MALFPULM Study Group. Prenatal natural history of congenital pulmonary malformations: MALFPULM population-based cohort study. Ultrasound Obstet Gynecol. 2019 Sep;54(3):381-388. doi: 10.1002/uog.20130.
PubMed 30264541Weber M, Monier I, Rahshenas M, Salomon LJ, Sananes N, Castaigne V, Houfflin-Debarge V, Jouannic JM, Massardier J, Tsatsaris V, Khoshnood B, Lelong N; MALFPULM study group; Delacourt C, Benachi A. Fetal Therapy for Congenital Pulmonary Malformations: A Prospective Population-Based National Cohort Study. Prenat Diagn. 2024 Nov;44(12):1536-1547. doi: 10.1002/pd.6646. Epub 2024 Aug 13.
PubMed 39138024
Study at a glance
From the registry record, last updated by the sponsor on 20 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Identification of Predictors of Neonatal Respiratory Distress for Newborns With Prenatally Diagnosed Congenital Lung Malformations : A Population-based, Nationally Representative Study
- ClinicalTrials.gov ID
- NCT02352207
- Acronym / sponsor ID
- MALFPULM / NI13005
- Keywords
- Neonatal respiratory distress, prenatal lung malformation, KRAS mutation, pregnant woman
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 436 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 17 Mar 2015 (actual)
- Primary completion
- 30 Nov 2018 (actual)
- Study completion
- 10 Mar 2021 (actual)
- First posted
- 2 Feb 2015 (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.
This research focuses on lung malformations detected in fetuses during prenatal ultrasound exams. Pathogenic mechanisms of these rare malformations are poorly understood. Improved knowledge is needed, to give families better information, and to better standardize treatment decisions The main goal is to better predict neonatal complications associated with these malformations, by identifying key predictive markers during the fetal period.
To achieve this objective, it is planned to include 400 pregnant women with prenatal diagnosis of pulmonary malformation in 45 health centers in France. This is the largest study on this topic at the international level.
Detailed description
The main objective of the study is to develop a prognostic model for estimating the risk of neonatal respiratory distress in children with prenatally diagnosed congenital pulmonary malformation.
The study will be offered to all pregnant women referred to a Center for Prenatal Diagnosis (CPD), due to the identification of a congenital lung malformations in the fetus. This study does not induce any changes in clinical and therapeutic monitoring proposed by the team in charge of the mother. At inclusion, and at each prenatal evaluation, prenatal parameters are entered in an e-CRF. In an effort to minimize any potential intra- and interoperator variability in malformation measurements over time, this study includes a standardized and centralized evaluation of ultrasound and MRI (if available) acquisitions of volume measurements. When the place of delivery is determined, a contact is made before birth with the teams (maternity, neonatology, intensive care unit), so that neonatal data are also collected prospectively. A phone call to the family is planned for the end of the first postnatal month, to identify any respiratory event that would have occurred between returning home after childbirth and the first month.
The routine follow-up of these children is then ensured in accordance with current national recommendations, in conjunction with the reference centers for rare respiratory diseases in children (28 university hospitals, spread across all regions of France). A telephone survey every 6 months with the referring physician in this specialized center or, alternatively, with the family, will collect clinical outcome until the age of 2 years. If a surgical intervention is planned within this interval, consent to collect part of the surgical specimen for research purposes will be solicited. This tissue will be immediately frozen at -80 ° C, to allow laser microdissection and DNA extraction from epithelial cells lining the malformation (Inserm U955). Frozen tissue will be conserved at the biobank of Necker-Enfants Malades.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| identification of a pulmonary malformation in the fetus | – | Other: identification of a pulmonary malformation in the fetuspregnant women referred to a prenatal Center, because of the identification of a pulmonary malformation in the fetus |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Pregnant women referred to a Center of Prenatal Diagnosis, because of the identification of a pulmonary malformation in the fetus
Key inclusion criteria (2 listed)
- Prenatal identification of a congenital pulmonary malformation (hyperechoic and/or cystic pulmonary lesion)
- consent of the mother for participation to the study
Key exclusion criteria (1 listed)
- Absence of consent for participation
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 |
|---|---|---|
| identification of a pulmonary malformation in the fetus | Other | identification of a pulmonary malformation in the fetus |
Primary outcome
Respiratory distress
Time frame: At Birth of the child
Respiratory distress at birth is defined by a breathing frequency > 60/min, or by the presence of chest retraction signs (Silverman score greater than or equal to 2). At least one of these signs must be persistent at 15' of life
17 secondary outcomes
Necessity of antenatal treatment
Time frame: At Birth of the child
Therapeutic abortion - fetal death
Time frame: At Birth of the child
Severe respiratory distress
Time frame: At Birth of the child
Identification of KRAS mutation
Time frame: 2 years
Level in delta Forskoline/IBMX Short Circuit Current (µA/cm2)
Time frame: 2 years
CFTR gene expression
Time frame: 2 years
CFTR protein expression
Time frame: 2 years
Basal short circuit current : Isc Basal
Time frame: 2 years
Effects of other potentiators on CFTR activity : ΔGenistein, ΔVX-770
Time frame: 2 years
Inhibition of CFTR (inh-172) : ΔInh-172
Time frame: 2 years
Response to ENaC inhibitors : ΔAmiloride, Δbenzamil
Time frame: 2 years
Activation of Calcium Dependant Channels : ΔUTP
Time frame: 2 years
Inhibition of SLC26A9 : ΔGlyH-101
Time frame: 2 years
Response to inhibitors of basolateral K+ secretion : ΔBarium ; ΔChromanol
Time frame: 2 years
Secretion of HCO3- in response to forskoline : Δ HCO3- primary culture
Time frame: 2 years
Gene expression of other channels : ENaC, SLC26A9, CaCC, KVLQT1 and KCa3.1
Time frame: 2 years
Protein expression of other channels : ENaC, SLC26A9, CaCC, KVLQT1 and KCa3.1
Time frame: 2 years
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 20 Nov 2025.
- Results publication: PubMed 34266941Delacourt C, Bertille N, Salomon LJ, Rahshenas M, Benachi A, Bonnard A, Choupeaux L, Fouquet V, Goua V, Hameury F, Hervieux E, Jouannic JM, Khen-Dunlop N, Le Bouar G, Massardier J, Roditis L, Rosenblatt J, Sartor A, Thong-Vanh C, Lelong N, Khoshnood B; , for the MALFPULM study group; members of the MALFPULM study group:. Predicting the risk of respiratory distress in newborns with congenital pulmonary malformations. Eur Respir J. 2022 Feb 3;59(2):2100949. doi: 10.1183/13993003.00949-2021. Print 2022 Feb.
- Results publication: PubMed 30264541Delacourt C, Bertille N, Salomon LJ, Benachi A, Henry E, Massardier J, Mottet N, Rosenblatt J, Sartor A, Thong-Vanh C, Valat-Rigot AS, Winer N, Lelong N, Khoshnood B; Prenatal MALFPULM Study Group. Prenatal natural history of congenital pulmonary malformations: MALFPULM population-based cohort study. Ultrasound Obstet Gynecol. 2019 Sep;54(3):381-388. doi: 10.1002/uog.20130.
- Derived from this study: PubMed 39138024Weber M, Monier I, Rahshenas M, Salomon LJ, Sananes N, Castaigne V, Houfflin-Debarge V, Jouannic JM, Massardier J, Tsatsaris V, Khoshnood B, Lelong N; MALFPULM study group; Delacourt C, Benachi A. Fetal Therapy for Congenital Pulmonary Malformations: A Prospective Population-Based National Cohort Study. Prenat Diagn. 2024 Nov;44(12):1536-1547. doi: 10.1002/pd.6646. Epub 2024 Aug 13.
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.
Laurent SALOMON, MD, PhD study director
Hospital Necker - Enfants Malades
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 Foetus With Congenital Pulmonary Malformation, 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 2 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 20 Nov 2025. 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?
Respiratory distress (time frame: At Birth of the child). 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 NCT02352207, 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 20 Nov 2025.