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

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

Study Overview

• Status: Not yet recruiting
• Conditions: CFTR-RD
• Intervention / Treatment: Other: data collection

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 Type: Observational
• Enrollment (Estimated): 400

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

children of adults not concluded for the diagnosis of Cystic fibrosis

Description

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

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Exclusion Criteria:

• patients carrying 2 CF causing variants of the CFTR gene
• patients carrying only 1 or no variants of CFTR

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
patients with unconcluded diagnosis for cystic fibrosis; symptomatic patientscarrying 2 variants of CFTR, including at least 1 non CF causing; patients not concluded at neonatal screening of Cystic Fibrosis	Other: data collection; collection of data of generated by "real world" follow up

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
lung Imaging	abnormal lung Imaging score, assessing the area of the lung with bronchiectasis, bronchial wall thickening, mucus plug and air trapping	within 3 months after visit

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Hôpital Necker-Enfants Malades

Study record dates

Study Major Dates

• Study Start (Estimated): May 1, 2024
• Primary Completion (Estimated): May 2, 2026
• Study Completion (Estimated): November 2, 2026

Study Registration Dates

• First Submitted: March 2, 2024
• First Submitted That Met QC Criteria: March 2, 2024
• First Posted (Actual): March 8, 2024

Study Record Updates

• Last Update Posted (Actual): March 12, 2024
• Last Update Submitted That Met QC Criteria: March 7, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Respiratory Tract Diseases; Lung Diseases; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Pancreatic Diseases; Cystic Fibrosis
• Other Study ID Numbers: CFTR-RD misdiagnosis

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No