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NCT Number: NCT06300567

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

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

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Key information

Conditions

CFTR-RD

Sex eligibility

All sexes

Study type

Observational

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Data Collection

Other

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

Primary outcomes

  1. lung Imaging

    Time frame: 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 outcomes

  1. lung infection

    Time frame: within 2 weeks after visit

    sputum bacterial colonization (number of Colony Forming Unit) of bacteria, fungi

  2. pancreatic function

    Time frame: within 2 weeks after visit

    fecal elastase in µg/g of feces

Sponsors and collaborators

Lead sponsor

Hôpital Necker-Enfants Malades

Other

Registry information

Official study title

Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis, CFTR-RD Misdiagnosis.

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Mar 8, 2024
Registry last updated
Mar 12, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.