New Markers of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Function in Sweat

MucoSWEATomics New Markers of CFTR Function in Sweat: Value for Diagnosis and Efficacy of Target Therapies

The aim of the study is to identify new biomarkers of CFTR function in sweat and in sweat gland.

Study Overview

• Status: Recruiting
• Conditions: Cystic Fibrosis; Biomarkers
• Intervention / Treatment: Diagnostic test: Sweat test (Macroduct Sweat Collection System) and skin biopsy (Punch Biopsy)

Detailed Description

Sweat is a watery solution containing trace amounts of proteins and peptides that may contribute to the antimicrobial defense system of the skin barrier, playing a role in innate immune responses against potential pathogens. The peptide and metabolite composition of sweat has not been fully explored. Evidence suggests that the composition of the skin barrier could vary with diseases. The causes and consequences of the changes of sweat proteins and peptides in humans are unknown. This clinical trial will focus on multiomics analysis of sweat, mainly of the antimicrobial peptides that play a key role in the host-pathogen interaction. Antioxidants, anti-bacterial and anti-inflammatory compounds may contribute to the regulation of systemic inflammation and pathophysiological disorders. In cystic fibrosis, inflammatory responses are altered, exaggerated and persistent, even in the absence of infection. It is therefore relevant to study the influence of CFTR mutations on the profile of antimicrobial peptides expressed in sweat. The clinical study will potentially lead to the discovery of novel non-invasive biomarkers of the disease in sweat.

• Study Type: Interventional
• Enrollment (Anticipated): 30
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Teresinha Leal, MD, PhD; Phone Number: 49473 00 32 2 764 9473; Email: teresinha.leal@uclouvain.be
• Study Contact Backup: Name: Audrey Reynaerts; Phone Number: 49472 00 32 2 764 9472; Email: audrey.reynaerts@uclouvain.be

Study Locations

• Belgium
  • Bruxelles, Belgium, 1200
    • Recruiting
    • Cliniques Universitaires Saint-Luc
    • Contact: Audrey Reynaerts; Phone Number: 49472 003327649472; Email: audrey.reynaerts@uclouvain.be
    • Principal Investigator: Teresinha Leal, MD,PhD
    • Sub-Investigator: Gabriel Mazzucchelli, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years to 76 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Subject aged of 18 years or more.
• The patients with cystic fibrosis must have a confirmed diagnosis, be clinically stable, have a Forced Expiratory Volume in one second (FEV1) ≥ 30 and an O2 saturation ≥ 92%. F508del homozygous will been tested.
• Heterozygosity (parents of patients) will be confirmed by the presence of a single F508del mutation.

Exclusion Criteria:

• Presence of an acute infection
• Pregnancy and lactation
• Subjects currently included in another clinical trial
• Subjects with forearm skin alterations
• Subjects with signs of dehydration
• Smokers

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

3

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Sham Comparator: Healthy volunteers; sweat test and skin biopsy	Diagnostic test: Sweat test (Macroduct Sweat Collection System) and skin biopsy (Punch Biopsy); three groups: Healthy volunteers; Patients with Cystic fibrosis; Heterozygous subjects
Experimental: Patients with Cystic fibrosis; sweat test and skin biopsy	Diagnostic test: Sweat test (Macroduct Sweat Collection System) and skin biopsy (Punch Biopsy); three groups: Healthy volunteers; Patients with Cystic fibrosis; Heterozygous subjects
Experimental: Heterozygotes subjects; sweat test and skin biopsy	Diagnostic test: Sweat test (Macroduct Sweat Collection System) and skin biopsy (Punch Biopsy); three groups: Healthy volunteers; Patients with Cystic fibrosis; Heterozygous subjects

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Descriptive statistical analysis	The assessment of the quantity of sweat secreted will be measured in mg with a scale, the sweat chloride concentration will be done by coulometric titration and expressed in mmol/L.	one day

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Proteomics, peptidomics and metabolomics analysis on sweat and sweat glands	The quantity of total protein will be analysed with a colorimetric assay and will be expressed in mg/ml. The identification of the different protein will be performed with different software, databases and algorithms such as Proteome Discoverer (version 1.4.1.14), Mascot software (version 2.2.0.6), MaxQuant (version 1.5.2.8), Andromeda, Uniprot, LFQ and Perseus (version 1.5.0.15).	2 years

Collaborators and Investigators

• Sponsor: Cliniques universitaires Saint-Luc- Université Catholique de Louvain
• Collaborators: Université de Liège
• Investigators: Principal Investigator: Teresinha Leal, MD, PhD, Cliniques Universitaires Saint-Luc

Study record dates

Study Major Dates

• Study Start (Actual): December 4, 2018
• Primary Completion (Anticipated): December 31, 2021
• Study Completion (Anticipated): December 31, 2021

Study Registration Dates

• First Submitted: May 14, 2019
• First Submitted That Met QC Criteria: June 19, 2019
• First Posted (Actual): June 20, 2019

Study Record Updates

• Last Update Posted (Actual): March 24, 2021
• Last Update Submitted That Met QC Criteria: March 23, 2021
• Last Verified: March 1, 2021

More Information

Terms related to this study

• Keywords: cystic fibrosis; sweat; sweat glands; omics analysis
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Lung Diseases; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Pancreatic Diseases; Fibrosis; Cystic Fibrosis
• Other Study ID Numbers: 2018/09OCT/374

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No