CFTR-RD
Conditions
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
Interventions
OTHERdata collection
collection of data of generated by real world follow up
Sponsors
Hôpital Necker-Enfants Malades
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| lung Imaging | 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
| Measure | Time frame | Description |
|---|---|---|
| lung infection | within 2 weeks after visit | sputum bacterial colonization (number of Colony Forming Unit) of bacteria, fungi |
| pancreatic function | within 2 weeks after visit | fecal elastase in µg/g of feces |
Outcome results
None listed