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

NCT06300567 | Not Yet Recruiting DMC

• 1 other identifier: CFTR-RD misdiagnosis
• Study Type: observational
• Target: 400
• Locations: 0 countries
• Sites: N/A

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

Conditions

CFTR-RD

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• lung infection

  within 2 weeks after visit

• pancreatic function

  within 2 weeks after visit

Study Arms (1)

patients with unconcluded diagnosis for cystic fibrosis

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

Other: data collection

Interventions

data collection OTHER

collection of data of generated by "real world" follow up

patients with unconcluded diagnosis for cystic fibrosis

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

children of adults not concluded for the diagnosis of Cystic fibrosis

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Hôpital Necker-Enfants Malades: lead

MeSH Terms

Interventions

Data Collection

Intervention Hierarchy (Ancestors)

Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: March 2, 2024
• First Posted: March 8, 2024
• Study Start: May 1, 2024
• Primary Completion: May 2, 2026
• Study Completion (Estimated): November 2, 2026
• Last Updated: March 12, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share