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

NCT02869932 | Completed

• 1 other identifier: P101003
• Study Type: interventional
• Target: 130
• Locations: 1 country
• Sites: 1

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.

Conditions

Cystic Fibrosis

Outcome Measures

Primary Outcomes (1)

• Comparison of Score Brody 2 (0 to 270) between the atypical and classical CF cohorts

  Score Brody 2 (0 to 270) mesured by Lung CT scan without injection

  1 day

Secondary Outcomes (1)

• Comparison of Wisconsin and Brasfield scores between the atypical and classical CF cohorts

  1 day

Study Arms (1)

Atypical and classic cystic fibrosis

OTHER

Lung CT scan without injection

Radiation: Lung CT scan

Interventions

Lung CT scan RADIATION

Lung CT scan without injection

Atypical and classic cystic fibrosis

Eligibility Criteria

• Age: 6 Years - 10 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• Vaincre la Mucoviscidose: collaborator
• French society of cystic fibrosis: collaborator
• AFDPHE : newborn screening of the French Society of Cystic Fibrosis: collaborator

Study Sites (1)

Robert Debre Hospital - Assistance Puplique - Hôpitaux de Paris

Paris, 75019, France

Location

Related Publications (1)

• Munck A, Bourmaud A, Bellon G, Picq P, Farrell PM; DPAM Study Group. Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening. Pediatr Pulmonol. 2020 Apr;55(4):918-928. doi: 10.1002/ppul.24634. Epub 2020 Jan 9.

  PMID: 31916691 RESULT

MeSH Terms

Conditions

Cystic Fibrosis

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 9, 2015
• First Posted: August 17, 2016
• Study Start: March 1, 2012
• Primary Completion: March 1, 2015
• Study Completion: March 1, 2015
• Last Updated: February 6, 2023

Record last verified: 2016-08

Locations

FR (1)