Prospective Study of the Phenotypic Expression of Cystic Fibrosis (CF) Screened Positive Newborns With an Atypical Form of CF (DPAM)
Condition: Cystic Fibrosis
MeSH terms: Cystic Fibrosis; Fibrosis
Study type: Interventional

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.
    

Detailed description: 
      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.
    

Intervention name(s): Lung CT scan
Intervention type(s): Radiation
Intervention description(s): Lung CT scan without injection
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Other