CFTR-RDNCT06300567
Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis.
An observational study of CFTR-RD, run by Hôpital Necker-Enfants Malades.
Trial summary
Assessment of the outcome of patients not concluded fir cystic fibrosis, either symptomatic patients or asymptomatic children detected by newborn screening for cystic fibrosis. The aim is to identify patients potentially at risk of progressing to the clinical spectrum of cystic fibrosis Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- CFTR-RD
- What is being tested?
- data collection
- How many people
- 400 participants
- Where
- No sites listed yet
- Study dates
- 1 May 2024to 2 Nov 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: children of adults not concluded for the diagnosis of Cystic fibrosis
Who may be able to join
- patients not concluded for the diagnosis of Cystic fibrosis either because of intermediate sweat test or because extensive genetic study has identified 2 vrainats at least 1 being not CF causing
- -
Who cannot join
- patients carrying 2 CF causing variants of the CFTR gene
- patients carrying only 1 or no variants of CFTR
About this study
Official title: Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis, CFTR-RD Misdiagnosis.
Assessment of the outcome of patients not concluded fir cystic fibrosis, either symptomatic patients or asymptomatic children detected by newborn screening for cystic fibrosis. The aim is to identify patients potentially at risk of progressing to the clinical spectrum of cystic fibrosis
Read the detailed description
Among patients not concluded for the diagnosis of cystic fibrosis, some are carriers of CFTR-RD mutations, therefore at risk of progressing to a symptomatic form, and may already have a subclinical involvement that it is important to identify. Among patients who do not carry the CFTR-RD genotype, other patients may be at risk of developing symptoms, if they are carriers of an undetected variant or wrongly classified as non-pathogenic. It is important to detect them to prevent the onset of symptoms
- Conditions
- CFTR-RD
- Being tested
- data collection
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
data collectionOther
collection of data of generated by "real world" follow up
| Study group | Role | What they receive |
|---|---|---|
| patients with unconcluded diagnosis for cystic fibrosis | 1. symptomatic patientscarrying 2 variants of CFTR, including at least 1 non CF causing
2. patients not concluded at neonatal screening of Cystic Fibrosis Receives: Other: data collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
lung Imaging
abnormal lung Imaging score, assessing the area of the lung with bronchiectasis, bronchial wall thickening, mucus plug and air trapping
Measured: within 3 months after visit
Secondary outcomes (2)
lung infection
sputum bacterial colonization (number of Colony Forming Unit) of bacteria, fungi
Measured: within 2 weeks after visit
pancreatic function
fecal elastase in µg/g of feces
Measured: within 2 weeks after visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Mar 2024
- Study start1 May 2024 (estimated)
- Primary completion2 May 2026 (estimated)
- Study completion2 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CFTR-RDStudies 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
- Retrospective
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hôpital Necker-Enfants Malades
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Isabelle Sermet-Gaudelus, Hôpital Necker-Enfants Malades
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06300567
- Sponsor's protocol ID
- CFTR-RD misdiagnosis
- Status last verified
- Mar 2024
- First submitted
- 2 Mar 2024
- Last updated
- 12 Mar 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis, CFTR-RD Misdiagnosis.
- ClinicalTrials.gov ID
- NCT06300567
- Acronym / sponsor ID
- CFTR-RD misdiagnosis
- Conditions
- CFTR-RD
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Hôpital Necker-Enfants MaladesUniversity, hospital or other
- Study start
- 1 May 2024 (estimated)
- Primary completion
- 2 May 2026 (estimated)
- Study completion
- 2 Nov 2026 (estimated)
- First posted
- 8 Mar 2024 (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.
Assessment of the outcome of patients not concluded fir cystic fibrosis, either symptomatic patients or asymptomatic children detected by newborn screening for cystic fibrosis. The aim is to identify patients potentially at risk of progressing to the clinical spectrum of cystic fibrosis
Detailed description
Among patients not concluded for the diagnosis of cystic fibrosis, some are carriers of CFTR-RD mutations, therefore at risk of progressing to a symptomatic form, and may already have a subclinical involvement that it is important to identify. Among patients who do not carry the CFTR-RD genotype, other patients may be at risk of developing symptoms, if they are carriers of an undetected variant or wrongly classified as non-pathogenic. It is important to detect them to prevent the onset of symptoms
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patients with unconcluded diagnosis for cystic fibrosis | – | Other: data collection1. symptomatic patientscarrying 2 variants of CFTR, including at least 1 non CF causing 2. patients not concluded at neonatal screening of Cystic Fibrosis |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- children of adults not concluded for the diagnosis of Cystic fibrosis
Key inclusion criteria (2 listed)
- patients not concluded for the diagnosis of Cystic fibrosis either because of intermediate sweat test or because extensive genetic study has identified 2 vrainats at least 1 being not CF causing
- -
Key exclusion criteria (2 listed)
- patients carrying 2 CF causing variants of the CFTR gene
- patients carrying only 1 or no variants of CFTR
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 |
|---|---|---|
| data collectioncollection of data of generated by "real world" follow up | Other | patients with unconcluded diagnosis for cystic fibrosis |
Primary outcome
lung Imaging
Time frame: within 3 months after visit
abnormal lung Imaging score, assessing the area of the lung with bronchiectasis, bronchial wall thickening, mucus plug and air trapping
2 secondary outcomes
lung infection
Time frame: within 2 weeks after visit
pancreatic function
Time frame: within 2 weeks after visit
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Mar 2024.
- Individual participant dataSharing planned: No
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.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of CFTR-RD, run by Hôpital Necker-Enfants Malades.
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 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: status not confirmed, as of the sponsor's last update on 12 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
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?
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?
lung Imaging (time frame: within 3 months after visit). 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 12 Mar 2024.