Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis, CFTR-RD Misdiagnosis.
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- CFTR-RD
- Sponsor
- Hôpital Necker-Enfants Malades
- Enrollment
- 400
- Primary Endpoint
- lung Imaging
- Status
- Not yet recruiting
- Last Updated
- 2 years ago
Overview
Brief 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
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
Investigators
Isabelle Sermet-Gaudelus
Professor
Hôpital Necker-Enfants Malades
Eligibility Criteria
Inclusion Criteria
- •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
Exclusion Criteria
- •patients carrying 2 CF causing variants of the CFTR gene
- •patients carrying only 1 or no variants of CFTR
Outcomes
Primary Outcomes
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
Secondary Outcomes
- pancreatic function(within 2 weeks after visit)
- lung infection(within 2 weeks after visit)