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Response to CFTR Modulators in CF Patients Under 18 Years

Recruiting
Conditions
Cystic Fibrosis in Children
Interventions
Drug: CFTR Modulators
Registration Number
NCT04301856
Lead Sponsor
Societe Francaise de la Mucoviscidose
Brief Summary

CFTR modulators should improve the prognosis of Cystic Fibrosis. Identifying patients under the age of 18 responding to CFTR modulators as well as detecting possible toxicity is an important medical objective given the potential side effects and the high cost of these molecules.

This observational follow-up cohort study is carried out as part of routine care.

The main objective is to assess the evolution of pulmonary structural impairment by low-dose CF scan at the end of the first year of CFTR modulator therapy.

The secondary objectives are to evaluate structural impairment at low dose scan at 3 years and 5 years of CFTR modulator treatment, the evolution of respiratory functional parameters, growth, puberty, lung infection, sweat test, quality of life and pancreatic function, as well as tolerance of modulators including liver toxicity.

Detailed Description

Cystic fibrosis (CF) is a deadly disease. This is due to overinfected chronic obstructive pulmonary disease that progresses to end-stage respiratory failure. CFTR modulators should improve the prognosis of CF, as they may slow the progression of patients' lung disease. Assessing their impact in the paediatric population is becoming a major issue. Children and adolescents under the age of 18 are a target cohort because they have a lung disease that is still poorly developed. Early prescription of CFTR modulators is therefore a priority but requires evidence of absence of toxicity. Identifying patients under the age of 18 responding to CFTR modulators as well as detecting possible toxicity, is an important medical objective given the potential side effects and the high cost of these molecules.

The outcomes previously used in Phase III studies (FEV1, frequency of exacerbations, nutritional status) are insufficiently sensitive in this population.

Other criteria need to be analyzed to identify the response to CFTR modulators in the short and medium term. The investigators hypothesize that the assessment of pulmonary structural impairment by low-dose lung CT-scan as part of routine care could be a much more sensitive criterion for the development of lung disease under CFTR modulators.

This observational follow-up cohort study is carried out as part of routine care. It does not involve a specific collection for research. Excess bronchial secretions and blood will be kept instead of being discarded in the event of a possible requalification for research.

The main objective is to assess the evolution of pulmonary structural impairment by low-dose CF scan at the end of the first year of CFTR modulator therapy The secondary objectives are to assess following criteria

* Tolerance of modulators in this age group, including screening for bronchial reactivity at treatment, early liver toxicity

* Longitudinal evolution of pulmonary structural impairment by low dose scan at 3 years and 5 years of CFTR modulator treatment

* Evolution of respiratory functional parameters

* Measurement by spirometry and plethysmography

* Lung clearance index (if possible)

* Longitudinal evolution of bacterial colonization, compared to the year prior to modulating treatment

* Exacerbations: number, duration, days of antibiotics, hospitalizations, return to stable condition

* Colonization of bronchial secretions

* Changes in quality of life

* Evolution of the sweat test

* Longitudinal evaluation of pancreatic function

* Longitudinal evaluation of growth and puberty compared to the year prior to CFTR modulator

* Growth speed, and bone age

* Bone mineralization, body composition (if possible)

* Pubertal markers from 9 years in girls and 10 years in boys

* Evaluation of glycemic dysregulation if present

* Preservation of samples taken as part of routine care (serum, bronchial secretions) for possible research use

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
600
Inclusion Criteria

Children with cystic fibrosis under the age of 18 under CFTR modulator therapy

Exclusion Criteria
  • Patients with cystic fibrosis without indication for CFTR modulator therapy
  • Patients over the age of 18
  • Pregnant or lactating women

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
CF children treated with CFTR modulCFTR ModulatorsCystic fibrosis patients under 18 years treated with CFTR modulators according to french health recommendations observational cohort study
Primary Outcome Measures
NameTimeMethod
Lung Imagingat 5 years, as part of national guidelines

Lung structural injury assessed by Low Dose CT, as part of routine care

Secondary Outcome Measures
NameTimeMethod
Lung Clearance Index - Lung Clearance Indexlongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

Lung clearance of nitrogen

colonization of bronchial secretionslongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

bacteria, fungi, mycobacteria

weight in kilogrammeslongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

weight in kilogrammes (associated with a retrospective collection in the year prior to treatment)

bronchial infectious exacerbationslongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

bronchial infectious exacerbations (associated with a retrospective collection in the year prior to treatment)

quality of life questionnairelongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

CFQ questionnaire for children above 8 years: worse 0, better 100

height in meterslongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

height in meters (associated with a retrospective collection in the year prior to treatment)

pubertal evolutionlongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

pubertal evolution (associated with a retrospective collection in the year prior to treatment)

Forced Vital Capacity (FVC)longitudinal monitoring of assessments carried out as part of routine care during 5 yrs

Forced Vital Capacity (FVC) in liter

Force Expiratory Flow 50 (FEV50)longitudinal monitoring of assessments carried out as part of routine care during 5 yrs

Force Expiratory Flow 50 (FEV50) in liter

Forced Expiratory Flow 25-75 (FEV25-75)longitudinal monitoring of assessments carried out as part of routine care during 5 yrs

Forced Expiratory Flow 25-75 (FEV25-75) in liter

sweat testlongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

sweat collection

pubertylongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

serum dosage of FSH, LH, Estradiol, testosterone Pelvic ultrasound if puberty initiated in girls

intestine inflammationlongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

fecal Calprotectine

side effects: declarative collection and monitoringlongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

declarative collection and monitoring

Forced Expiratory Volume in 1 second(FEV1)longitudinal monitoring of assessments carried out as part of routine care during 5 yrs

Forced Expiratory Volume in 1 second(FEV1) in liter

Residual Volume (RV)longitudinal monitoring of assessments carried out as part of routine care during 5 yrs

Residual Volume (RV) in liter

Total Pulmonary Capacitylongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

Total Pulmonary Capacity in liter

ENT quality of life questionnairelongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

SN-score: better score 1, worse 7

Abdominal quality of life questionnairelongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

better score: 0, worse: 25

liver ultrasoundlongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

liver ultrasound

serum and fecal pancreatic biological markerslongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

immunoreactive trypsin, lipase, amylase, vitamin A and E, Prothrombin time, and fecal (fecal elastase

bone biological markerslongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

25OHvitD, Ca, P, PTH, Osteocalcin, IgF1, IgF1BP3, CTX

bone maturationlongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

Zscore (in relation to height and sex and weight) (data available in centers with the necessary equipment)

elastometry (data available in centers with the necessary equipment)longitudinal monitoring of assessments carried out as part of routine care during 5 yrs

elastometry (data available in centers with the necessary equipment)

glycemic regulationlongitudinal monitoring of assessments carried out as part of routine care during 5 yrs

monitoring of glycemic dysregulation ( as routinely done in the centers)

Trial Locations

Locations (1)

Sermet-Gaudelus Isabelle

🇫🇷

Paris, France

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