Cystic FibrosisNCT05654480
Combating Diagnostic Wandering and Impasse for Cystic Fibrosis
An observational study of Cystic Fibrosis, run by Societe Francaise de la Mucoviscidose at 1 site in France.
Trial summary
After cystic fibrosis (CF) neonatal screening, some children remain with a not concluded diagnosis. In France, the medical follow-up is not standardized, some of them may be lost of follow-up. The aim of the study is to identify children at risk of developing CF. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Cystic Fibrosis
- How many people
- 400 participants
- Where
- 1 siteFrance
- Study dates
- 2 Jan 2023to 31 Dec 2024
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Adult patients and pediatric patients evaluated at neonatal screening and : 1) either an intermediate chloride sweat test (30-59 mmol/L) and at most one CFTR mutation (2) or negative chloride sweat test (< 30 mmol/L) and two CFTR mutations one of wich is of unknown significance (VUS) Adult and pediatric patients carrying at least two CFTR mutations one of which at least is of Varying Clinical Consequence according to "CFTR2" database or "CFTR-RD" according to "CFTR-France" database.
Who may be able to join
- undiagnosed patients with hypertrypsinemia at CF neonatal screening and :
- either an intermediate chloride sweat test (30-59 mmol/L) and at most one CFTR mutation
- or negative chloride sweat test (< 30 mmol/L) and two CFTR mutations one of wich is of unknown significance (VUS)
- patients with two CFTR mutations at least one of which is of Varying Clinical Consequence according to "CFTR2" database or "CFTR-RD" according to "CFTR-France" database.
Who cannot join
- CF patients with 2 CF causing mutations
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Combating Diagnostic Wandering and Impasse for Cystic Fibrosis: Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis
After cystic fibrosis (CF) neonatal screening, some children remain with a not concluded diagnosis. In France, the medical follow-up is not standardized, some of them may be lost of follow-up. The aim of the study is to identify children at risk of developing CF. Other children carry mutation at risk of CFTR related disorder (CFTR-RD) but remain asymptomatic during childhood. The aim of the study is to evaluate those children by microbiology, respiratory function test and lung imaging tests to reclassify them in the CFTR spectrum.
Read the detailed description
Cystic fibrosis (CF) is a life-limiting genetic disorder related to the mutation of the CF Transmembrane Conductance Regulator (CFTR) gene. Cystic fibrosis neonatal screening in France has been generalized in 2002. Patients with hypertrypsinemia and two CF mutations are diagnosed CF and followed in CF center with standards of care.
But some children with hypertrypsinemia may have an intermediate chloride sweat test and only one CFTR mutation, or a negative sweat test and two CFTR mutations at least one of which is of unknown pathogenicity.
Some other patients may present with two CFTR-RD mutations and may unravel a monosymptomatic disease in adulthood (CFTR-related disorder) such as congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis, disseminated bronchiectasis, chronic rhinosinusitis...We have very few data about age of onset, type of symptoms, and infraclinical disease.
Patients will be identified according to neonatal screening data and genetic database, and will undergo clinical evaluation, pancreatic and lung disease evaluation to reclassify them in the CFTR spectrum.
- Conditions
- Cystic Fibrosis
- Medical subject headings
- Cystic Fibrosis
What is being measured
The primary outcome is the main question the study is designed to answer.
sputum bacteriology
bacteria, fungi and mycobacteria
Measured: previous and at inclusion
Secondary outcomes (9)
spirometry
Forced Expiratory Volume in 1 second, Forced VItal capacity
Measured: previous and at inclusion
Lung Clearance index (LCI)
Lung Clearance Index 2.5 %
Measured: previous and at inclusion
Plethysmography
Residual volume
Measured: previous and at inclusion
lung imaging
Low dose CT scan
Measured: previous and at inclusion
sweat test
chloride sweat concentration
Measured: previous and at inclusion
pulmonary exacerbations
number of pulmonary exacerbations
Measured: previous to inclusion
pancreatic function
fecal elastase
Measured: previous and at inclusion
liver function
liver function test
Measured: previous and at inclusion
liver ultrasound
liver parenchyma evaluation
Measured: previous and at inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Dec 2022
- Study start2 Jan 2023 (estimated)
- Primary completion1 May 2024 (estimated)
- Study completion31 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cystic FibrosisStudies of the same condition, open and under way.
- 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
- Cross-sectional
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Societe Francaise de la Mucoviscidose
- Sponsor type
- University, hospital or other
- Collaborators
- Vaincre la Mucoviscidose
- Responsible party
- Principal investigator, Isabelle SERMET-GAUDELUS, Societe Francaise de la Mucoviscidose
- Investigators
- Christophe Marguet, MD, Study director, Societe Francaise de la Mucoviscidose
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05654480
- Sponsor's protocol ID
- CF impasse
- Status last verified
- Dec 2022
- First submitted
- 25 Nov 2022
- Last updated
- 16 Dec 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Dec 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Combating Diagnostic Wandering and Impasse for Cystic Fibrosis: Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis
- ClinicalTrials.gov ID
- NCT05654480
- Acronym / sponsor ID
- CF impasse
- Conditions
- Cystic Fibrosis
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Societe Francaise de la MucoviscidoseUniversity, hospital or other
- Collaborators
- Vaincre la Mucoviscidose
- Study start
- 2 Jan 2023 (estimated)
- Primary completion
- 1 May 2024 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 16 Dec 2022 (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.
After cystic fibrosis (CF) neonatal screening, some children remain with a not concluded diagnosis. In France, the medical follow-up is not standardized, some of them may be lost of follow-up. The aim of the study is to identify children at risk of developing CF. Other children carry mutation at risk of CFTR related disorder (CFTR-RD) but remain asymptomatic during childhood. The aim of the study is to evaluate those children by microbiology, respiratory function test and lung imaging tests to reclassify them in the CFTR spectrum.
Detailed description
Cystic fibrosis (CF) is a life-limiting genetic disorder related to the mutation of the CF Transmembrane Conductance Regulator (CFTR) gene. Cystic fibrosis neonatal screening in France has been generalized in 2002. Patients with hypertrypsinemia and two CF mutations are diagnosed CF and followed in CF center with standards of care.
But some children with hypertrypsinemia may have an intermediate chloride sweat test and only one CFTR mutation, or a negative sweat test and two CFTR mutations at least one of which is of unknown pathogenicity.
Some other patients may present with two CFTR-RD mutations and may unravel a monosymptomatic disease in adulthood (CFTR-related disorder) such as congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis, disseminated bronchiectasis, chronic rhinosinusitis...We have very few data about age of onset, type of symptoms, and infraclinical disease.
Patients will be identified according to neonatal screening data and genetic database, and will undergo clinical evaluation, pancreatic and lung disease evaluation to reclassify them in the CFTR spectrum.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Adult patients and pediatric patients evaluated at neonatal screening and : 1) either an intermediate chloride sweat test (30-59 mmol/L) and at most one CFTR mutation (2) or negative chloride sweat test (< 30 mmol/L) and two CFTR mutations one of wich is of unknown significance (VUS) Adult and pediatric patients carrying at least two CFTR mutations one of which at least is of Varying Clinical Consequence according to "CFTR2" database or "CFTR-RD" according to "CFTR-France" database.
Key inclusion criteria (4 listed)
- undiagnosed patients with hypertrypsinemia at CF neonatal screening and :
- patients with two CFTR mutations at least one of which is of Varying Clinical Consequence according to "CFTR2" database or "CFTR-RD" according to "CFTR-France" database.
Key exclusion criteria (1 listed)
- CF patients with 2 CF causing mutations
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
sputum bacteriology
Time frame: previous and at inclusion
bacteria, fungi and mycobacteria
9 secondary outcomes
spirometry
Time frame: previous and at inclusion
Lung Clearance index (LCI)
Time frame: previous and at inclusion
Plethysmography
Time frame: previous and at inclusion
lung imaging
Time frame: previous and at inclusion
sweat test
Time frame: previous and at inclusion
pulmonary exacerbations
Time frame: previous to inclusion
pancreatic function
Time frame: previous and at inclusion
liver function
Time frame: previous and at inclusion
liver ultrasound
Time frame: previous and at inclusion
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Dec 2022.
Related trials for Cystic Fibrosis
RecruitingPhase 2
A Study of 24 to 52 Weeks Treatment to Evaluate The Efficacy And Safety of Galvokimig in Adult Study Participants With Non-Cystic Fibrosis Bronchiectasis
Non-cystic Fibrosis Bronchiectasis
Active, not recruitingObservational study
CFTR Modulator Effects on Bone and Muscle in Adults With Cystic Fibrosis
Cystic Fibrosis, Bone Loss
RecruitingObservational study
Natural History of Bronchiectasis
Bronchiectasis, Cystic Fibrosis
RecruitingObservational study
Role of Genetic Factors in the Development of Lung Disease
Cystic Fibrosis, Pulmonary Fibrosis
RecruitingPhase 2
Early Study on Tamoxifen Safety/Tolerability in Cystic Fibrosis Patients Unable to Use CFTR Modulators.
Cystic Fibrosis - Complete
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.
Christophe Marguet, MD study director
Societe Francaise de la Mucoviscidose
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 Cystic Fibrosis, run by Societe Francaise de la Mucoviscidose 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 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: status not confirmed, as of the sponsor's last update on 16 Dec 2022. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Isabelle Sermet-Gaudelus (00 33 1 44 49 48 87, isabelle.sermet@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
sputum bacteriology (time frame: previous and at inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 16 Dec 2022.