Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis.

Hôpital Necker-Enfants Malades

Status: Not yet enrolling

Conditions: CFTR-RD

Treatments: Other: data collection

Study type: Observational

Funder types: Other

Identifiers

NCT06300567

CFTR-RD misdiagnosis

Details and patient eligibility

About

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

Full 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

Enrollment: 400 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

400 participants in 1 patient group

patients with unconcluded diagnosis for cystic fibrosis

Description:

1. symptomatic patientscarrying 2 variants of CFTR, including at least 1 non CF causing 2. patients not concluded at neonatal screening of Cystic Fibrosis

Treatment:

Other: data collection