Combating Diagnostic Wandering and Impasse for Cystic Fibrosis

Sponsor
Societe Francaise de la Mucoviscidose (Other)
Overall Status
Not yet recruiting
CT.gov ID
NCT05654480
Collaborator
Vaincre la Mucoviscidose (Other)
400
1
24
16.7

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    Cystic fibrosis (CF) is a life-limiting genetic disorder related to the mutation of the CF Transmembrane Conductance Regulator (CFTR) gene. Cystic fibrosis neonatal screening in France has been generalized in 2002. Patients with hypertrypsinemia and two CF mutations are diagnosed CF and followed in CF center with standards of care.

    But some children with hypertrypsinemia may have an intermediate chloride sweat test and only one CFTR mutation, or a negative sweat test and two CFTR mutations at least one of which is of unknown pathogenicity.

    Some other patients may present with two CFTR-RD mutations and may unravel a monosymptomatic disease in adulthood (CFTR-related disorder) such as congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis, disseminated bronchiectasis, chronic rhinosinusitis...We have very few data about age of onset, type of symptoms, and infraclinical disease.

    Patients will be identified according to neonatal screening data and genetic database, and will undergo clinical evaluation, pancreatic and lung disease evaluation to reclassify them in the CFTR spectrum.

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    400 participants
    Observational Model:
    Cohort
    Time Perspective:
    Cross-Sectional
    Official Title:
    Combating Diagnostic Wandering and Impasse for Cystic Fibrosis: Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis
    Anticipated Study Start Date :
    Jan 2, 2023
    Anticipated Primary Completion Date :
    May 1, 2024
    Anticipated Study Completion Date :
    Dec 31, 2024

    Outcome Measures

    Primary Outcome Measures

    1. sputum bacteriology [previous and at inclusion]

      bacteria, fungi and mycobacteria

    Secondary Outcome Measures

    1. spirometry [previous and at inclusion]

      Forced Expiratory Volume in 1 second, Forced VItal capacity

    2. Lung Clearance index (LCI) [previous and at inclusion]

      Lung Clearance Index 2.5 %

    3. Plethysmography [previous and at inclusion]

      Residual volume

    4. lung imaging [previous and at inclusion]

      Low dose CT scan

    5. sweat test [previous and at inclusion]

      chloride sweat concentration

    6. pulmonary exacerbations [previous to inclusion]

      number of pulmonary exacerbations

    7. pancreatic function [previous and at inclusion]

      fecal elastase

    8. liver function [previous and at inclusion]

      liver function test

    9. liver ultrasound [previous and at inclusion]

      liver parenchyma evaluation

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:
    • undiagnosed patients with hypertrypsinemia at CF 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)

    • 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.
    Exclusion Criteria:
    • CF patients with 2 CF causing mutations

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Necker Hospital Paris France 75014

    Sponsors and Collaborators

    • Societe Francaise de la Mucoviscidose
    • Vaincre la Mucoviscidose

    Investigators

    • Study Director: Christophe Marguet, MD, Societe Francaise de la Mucoviscidose

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Isabelle SERMET-GAUDELUS, Professor, Societe Francaise de la Mucoviscidose
    ClinicalTrials.gov Identifier:
    NCT05654480
    Other Study ID Numbers:
    • CF impasse
    First Posted:
    Dec 16, 2022
    Last Update Posted:
    Dec 16, 2022
    Last Verified:
    Dec 1, 2022
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:

    Study Results

    No Results Posted as of Dec 16, 2022