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Prospective Study of the Phenotypic Expression of Cystic Fibrosis (CF) Screened Positive Newborns With an Atypical Form of CF (DPAM)

NCT02869932 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 130

Last updated 2023-02-06

No results posted yet for this study

Summary

The strategy of neonatal screening for Cystic Fibrosis in France relies on Immuno Reactive Trypsinogen (IRT) at day 3/DNA analysis with a CF Elucigen 30 mutations kit/ IRT safety-net at day 21. This strategy has significantly improved the performance of CF neonatal screening (NNS) in terms of positive predictive value and sensitivity but revealed new difficulties. Up to 85-90% of CF patients detected through the NNS program has a classical CF form with a positive sweat test and 2, 1 or no CF causing mutations but the remainder has either 2 CFTR mutations with at least one non-CF causing mutation and a sweat test \<60mmol/L or 1, 0 CFTR mutation and an intermediate sweat test value ≥ 30 et \< 60mmol/L raising a diagnosis and prognosis dilemma. Meanwhile the vast majority of these cohorts will remain asymptomatic over time, some will develop symptoms prompting clinicians to maintain a rigorous surveillance for the entire atypical cohort, whose modalities vary a lot among centers and countries.

This prospective multicenter study with a standardized assessment of a matched cohort with "atypical" CF versus "classical" CF from 6 years of age (60-65 cases in each cohort) is aimed at evaluating pulmonary and nutritional status to, better define the best monitoring follow-up, therapeutic management and familial genetic counseling.

Conditions

Interventions

RADIATION

Lung CT scan

Lung CT scan without injection

Sponsors & Collaborators

  • Vaincre la Mucoviscidose

    collaborator OTHER

  • French society of cystic fibrosis

    collaborator UNKNOWN

  • AFDPHE : newborn screening of the French Society of Cystic Fibrosis

    collaborator UNKNOWN

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Study Design

Allocation
NA
Purpose
OTHER
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
6 Years
Max Age
10 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-03-31
Primary Completion
2015-03-31
Completion
2015-03-31

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02869932 on ClinicalTrials.gov