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

Not yet recruiting

• Conditions: CFTR-RD
• Interventions: Other: data collection

• Registration Number: NCT06300567
• Lead Sponsor: Hôpital Necker-Enfants Malades

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

Study Timeline

• Status Verified: 2024-03
• Study First Submitted: 2024-03-02
• Study First Submitted QC: 2024-03-02
• Last Update Submitted: 2024-03-07
• Study First Posted: 2024-03-08
• Last Update Posted: 2024-03-12
• Study Start: 2024-05-01
• Primary Completion: 2026-05-02
• Study Completion: 2026-11-02

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 400

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
patients with unconcluded diagnosis for cystic fibrosis	data collection	1. symptomatic patientscarrying 2 variants of CFTR, including at least 1 non CF causing 2. patients not concluded at neonatal screening of Cystic Fibrosis

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
pancreatic function	within 2 weeks after visit	fecal elastase in µg/g of feces
lung infection	within 2 weeks after visit	sputum bacterial colonization (number of Colony Forming Unit) of bacteria, fungi