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Surrogate Markers of Response to New Therapies in Cystic Fibrosis Patients

Not Applicable
Recruiting
Conditions
Cystic Fibrosis
Interventions
Procedure: Nasal swab; rectal biopsy.
Registration Number
NCT02965326
Lead Sponsor
Hôpital Necker-Enfants Malades
Brief Summary

The purpose of this study is to determine which biological marker, or association of biological markers, best predict clinical response of cystic fibrosis patients to CFTR modulators.

Detailed Description

This study is based upon the hypothesis that clinical response of cystic fibrosis patients to CFTR modulators is correlated to in vitro responses to these drugs of epithelial cells derived from the patients, as assessed by CFTR-dependent Chloride secretion. Epithelial cells will be derived either from nasal or rectal epithelia, and consist both of cultured cells and organoids. The drugs tested will be Ivacaftor, or Lumacaftor/Ivacaftor, according to patient's treatment. Results of these assays will be compared with response to treatment at 6 and 12 months, assessed by clinical response and in vivo assay of CFTR function.

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
75
Inclusion Criteria
  • Cystic fibrosis patients treated by CFTR modulators (Ivacaftor or the association Ivacaftor-Lumacaftor)
  • Cystic fibrosis patients non treated by CFTR modulators
  • Patients in whom cystic fibrosis diagnosis has been suspected, but excluded by physiological and genetic investigations
Exclusion Criteria
  • pregnant or lactating women
  • contraindication to nasal swab
  • contraindication to rectal biopsy

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
Cystic fibrosis, treatedNasal swab; rectal biopsy.Cystic fibrosis patients treated either by Ivacaftor or by the association Ivacaftor-Lumacaftor
Cystic fibrosis, non treatedNasal swab; rectal biopsy.Cystic fibrosis patients, non treated by a CFTR modulator
Non-Cystic fibrosisNasal swab; rectal biopsy.Patients in whom cystic fibrosis diagnosis has been suspected, but excluded by physiological and genetic investigations
Primary Outcome Measures
NameTimeMethod
Forced Expiratory Volume in 1 secondinitiation, 7 days, 1 month, 6 months, 1 year and every 6 months

Respiratory Function test

Secondary Outcome Measures
NameTimeMethod
IL-8 in sputuminitiation, 7 days, 1 month, 6 months, 1 year and every 6 months

IL-8 in µg/g of sputum

Amylase in bloodinitiation, 1 month, 3 Months, 6 months and every 6 months

amylase in mg/ml

Dynamometryinitiation , 1 month, 3 Months, 6 months and every 6 months

ambulatory measurement of quadriceps strength

Sweat testinitiation ,1 month

chloride concentration in sweat

Chest CT scaninitiation, 3 years and 5 years

Lung Imaging: % versuys normal of lung parenchuma with bronchiectasis, airway wall thickening, mucus plugs, air trapping

abdominal ultrasonographytreatment initiation, 1 year and every year

presence of liver hyperechogenicity, fibrosis, as assessed by the radiologist

calprotectin in sputuminitiation, 7 days, 1 month, 6 months, 1 year and every 6 months

calprotectin in µg/g of sputum

proteomics of exhalateinitiation, 7 days, 1 month, 6 months, 1 year and every 6 months

measurement of proteins in exhaled air

proton density fat fractiontreatment initiation, 1 year

magnetic resonance Imaging of the Pancreas

CFTR activity in intestinal epithelium/bicarbonateinitiation of treatment and repeated of cell culture failure

Bicarbonate transport in intestinal primary culture and study in Ussing chamber (µA/cm2)

proteomics in bloodinitiation, 7 days, 1 month, 6 months, 1 year and every year

measurement of proteins in blood

metabolomics in bloodinitiation, 7 days, 1 month, 6 months, 1 year and every year

measurement of métabolites in blood

metabolomics in urineinitiation, 7 days, 1 month, 6 months, 1 year and every year

measurement of métabolites in urine

Forced Expiratory Flow 25-75initiation, 7 days, 1 month, 6 months, 1 year and every 6 months

Respiratory Function test

Forced Vital Capacityinitiation, 7 days, 1 month, 6 months, 1 year and every 6 months

Respiratory Function test

elastase in sputuminitiation, 7 days, 1 month, 6 months, 1 year and every 6 months

elastase activity in UI/g of sputum

Calprotectin in bloodinitiation, 1 month, 3 Months, 6 months and every 6 months

calprotectin in µg/ml of blood

IL-8 in bloodinitiation, 1 month, 3 Months, 6 months and every 6 months

IL-8 in µg/ml of blood

sputum bronchial microorganism colonizationinitiation , 1 month, 3 Months, 6 months and every 6 months

bacterial, fungi and viral colonization

fecal elastaseinitiation, at 6 months and every year

elastase feces in µg/g feces

fecal calprotectininitiation, at 6 months and every year

calprotectin, concentraion in feces in µg/g

patient quality of lifeinitiation, 1 month, 6 months, 1 year and every 6 months

Score tolerance of the treatment, perception of respiratory, digestive symptoms, energy, body image as assessed by the "Cystic Fibrosis Questionnaire" score a better quality of life is indicated by an increase in the score value. Minimum value is 0, maximum is 100.

CFTR activity in nasal cells/bicarbonatinitiation of treatment and repeated if cell culture failure

Bicarbonate transport in primary nasal cell cultures obtained by nasal brushing and study in Ussing chamber (µA/cm2)

Residual Volumeinitiation, 7 days, 1 month, 6 months, 1 year and every 6 months

Respiratory Function test

creatine phosphokinase in bloodinitiation, 1 month, 3 Months, 6 months and every 6 months

CPK in mg/ml

tumor necrosis factor in sputuminitiation, 1 month, 3 Months, 6 months and every 6 months

tumor necrosis factor in µg/g of sputum

liver function test in bloodinitiation, 1 month, 3 Months, 6 months and every 6 months

serum glutamate oxaloacetate transaminase in ui/ml

liver function test/SGPT in bloodinitiation, 1 month, 3 Months, 6 months and every 6 months

serum glutamate pyruvate transaminase in ui/ml

liver function test/bilirubin in bloodinitiation, 1 month, 3 Months, 6 months and every 6 months

Bilirubin in mg/ml

liver function test, gammaGT in bloodinitiation, 1 month, 3 Months, 6 months and every 6 months

GammaGT in UI/ml

metabolomics of sweatinitiation, 7 days, 1 month, 6 months, 1 year and every 6 months

measurement of métabolites in sweat

glycemic Holterinitiation, 1 year and every year

glycemia monitoring

CFTR activity in nasal cells/chlorideinitiation of treatment and repeated if cell culture failure

Chloride transport in primary nasal cell cultures obtained by nasal brushing and study in Ussing chamber (µA/cm2)

proteomic in urineinitiation, 7 days, 1 month, 6 months, 1 year and every year

measurement of proteins in blood

Exhaled air compositioninitiation, 7 days, 1 month, 6 months, 1 year and every year

Volatile organic compounds in exhaled air

Impedancemetryinitiation , 1 month, 3 Months, 6 months and every 6 months

ambulatory measurement of body composition

proteomics of sweatinitiation, 7 days, 1 month, 6 months, 1 year and every 6 months

measurement of proteins in sweat

Lung MRIinitiation, at 1 year and every year

Lung Imaging evaluation : number of bronchiectasis, number of mucus plugs

osteodensitometryinitiation, 1 year, and every year

Bone mineralization body composition

sweat evaporimetryinitiation and 1 month

quantity of sweat produced afer bet-adrenergic stimulation after subcutaneous injection

CFTR activity in intestinal epithelium/chlorideinitiation of treatment and repeated of cell culture failure

Chloride transport in intestinal primary culture and study in Ussing chamber (µA/cm2)

Elasto MRIinitiation and 1 year

measurement of liver fibrosis by MRI

Lung Clearance Indexinitiation, 6 months, 1 year and every 6 months

Capacity of the lung to washout pure Oxygen,

Trial Locations

Locations (1)

Necker Hospital

🇫🇷

Paris, France

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