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

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ClinicalTrials.gov Identifier: NCT02869932
Recruitment Status : Completed
First Posted : August 17, 2016
Last Update Posted : August 17, 2016
Sponsor:
Collaborators:
Vaincre la Mucoviscidose
French society of cystic fibrosis
AFDPHE : newborn screening of the French Society of Cystic Fibrosis
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief 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.


Condition or disease Intervention/treatment Phase
Cystic Fibrosis Radiation: Lung CT scan Not Applicable

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.


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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 130 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Official Title: Prospective Study of the Phenotypic Expression of Cystic Fibrosis (CF) Screened Positive Newborns With an Atypical Form of CF (DPAM)
Study Start Date : March 2012
Actual Primary Completion Date : March 2015
Actual Study Completion Date : March 2015

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Atypical and classic cystic fibrosis
Lung CT scan without injection
Radiation: Lung CT scan
Lung CT scan without injection




Primary Outcome Measures :
  1. Comparison of Score Brody 2 (0 to 270) between the atypical and classical CF cohorts [ Time Frame: 1 day ]
    Score Brody 2 (0 to 270) mesured by Lung CT scan without injection


Secondary Outcome Measures :
  1. Comparison of Wisconsin and Brasfield scores between the atypical and classical CF cohorts [ Time Frame: 1 day ]
    Wisconsin and Brasfield scores will be mesured by Chest X-ray



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Ages Eligible for Study:   6 Years to 10 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Atypical CF cohort: children identified trough newborn screening on a hypertrypsinemia, who are older than 6 years of age at the time of inclusion and who carry a) 2 CFTR gene mutations of the CF30 kit with at least one R117H whatever the value of the sweat test or b) 2 CFTR gene mutations of the CF30 kit with a sweat test chloride < 60mmol/L or c) 1 or 0 mutation in the CF30 kit with a sweat test ≥ 30 and <60mmol/L and identification of additional mutations by comprehensive screening of the gene
  • Classical CF cohort: children identified by newborn screening on a hypertrypsinemia, who are matched with an Atypical CF by age and sex if possible and who were diagnosed with a classical CF based on a sweat test > 60 mmol/ L with 0, 1 or 2 CF causing gene mutations.

Exclusion Criteria:

  • • Drugs such as CFTR modulators interfering with the phenotypic expression of the disease.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02869932


Locations
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France
Robert Debre Hospital - Assistance Puplique - Hôpitaux de Paris
Paris, France, 75019
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Vaincre la Mucoviscidose
French society of cystic fibrosis
AFDPHE : newborn screening of the French Society of Cystic Fibrosis

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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02869932     History of Changes
Other Study ID Numbers: P101003
First Posted: August 17, 2016    Key Record Dates
Last Update Posted: August 17, 2016
Last Verified: August 2016
Additional relevant MeSH terms:
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Cystic Fibrosis
Fibrosis
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases