Combating Diagnostic Wandering and Impasse for Cystic Fibrosis

NCT05654480 | Unknown

• 1 other identifier: CF impasse
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

After cystic fibrosis (CF) neonatal screening, some children remain with a not concluded diagnosis. In France, the medical follow-up is not standardized, some of them may be lost of follow-up. The aim of the study is to identify children at risk of developing CF. Other children carry mutation at risk of CFTR related disorder (CFTR-RD) but remain asymptomatic during childhood. The aim of the study is to evaluate those children by microbiology, respiratory function test and lung imaging tests to reclassify them in the CFTR spectrum.

Conditions

Cystic Fibrosis

Outcome Measures

Primary Outcomes (1)

• sputum bacteriology

  bacteria, fungi and mycobacteria

  previous and at inclusion

Secondary Outcomes (9)

• spirometry

  previous and at inclusion

• Lung Clearance index (LCI)

  previous and at inclusion

• Plethysmography

  previous and at inclusion

• lung imaging

  previous and at inclusion

• sweat test

  previous and at inclusion

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

Adult patients and pediatric patients evaluated at neonatal screening and : 1\) either an intermediate chloride sweat test (30-59 mmol/L) and at most one CFTR mutation (2) or negative chloride sweat test (\< 30 mmol/L) and two CFTR mutations one of wich is of unknown significance (VUS) Adult and pediatric patients carrying at least two CFTR mutations one of which at least is of Varying Clinical Consequence according to "CFTR2" database or "CFTR-RD" according to "CFTR-France" database.

You may qualify if:

• undiagnosed patients with hypertrypsinemia at CF neonatal screening and :
• either an intermediate chloride sweat test (30-59 mmol/L) and at most one CFTR mutation
• or negative chloride sweat test (\< 30 mmol/L) and two CFTR mutations one of wich is of unknown significance (VUS)
• patients with two CFTR mutations at least one of which is of Varying Clinical Consequence according to "CFTR2" database or "CFTR-RD" according to "CFTR-France" database.

You may not qualify if:

• CF patients with 2 CF causing mutations

Sponsors & Collaborators

• Societe Francaise de la Mucoviscidose: lead
• Vaincre la Mucoviscidose: collaborator

Study Sites (1)

Necker Hospital

Paris, 75014, France

Location

MeSH Terms

Conditions

Cystic Fibrosis

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases

Study Officials

• Christophe Marguet, MD

  Societe Francaise de la Mucoviscidose

  STUDY DIRECTOR

Central Study Contacts

Isabelle Sermet-Gaudelus

CONTACT

00 33 1 44 49 48 87; isabelle.sermet@aphp.fr

Anne Bonnel

CONTACT

00 33 1 39 63 92 93; anne-sophie.bonnel@aphp.fr

Study Design

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

Study Record Dates

• First Submitted: November 25, 2022
• First Posted: December 16, 2022
• Study Start: January 2, 2023
• Primary Completion: May 1, 2024
• Study Completion: December 31, 2024
• Last Updated: December 16, 2022

Record last verified: 2022-12

Locations

FR (1)