NCT03894657

Brief Summary

The purpose of the study is to investigate whether the correction of CFTR function by Lumacaftor/Ivacaftor in a patient-derived primary nasal cell model is a surrogate biomarker for respiratory improvement in Orkambi® treated patients.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
91

participants targeted

Target at P50-P75 for not_applicable

Timeline
Completed

Started Dec 2019

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 12, 2019

Completed
1 month until next milestone

First Posted

Study publicly available on registry

March 28, 2019

Completed
9 months until next milestone

Study Start

First participant enrolled

December 18, 2019

Completed
1.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 25, 2021

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

May 12, 2022

Completed
Last Updated

March 10, 2026

Status Verified

March 1, 2026

Enrollment Period

1.9 years

First QC Date

February 12, 2019

Last Update Submit

March 6, 2026

Conditions

Cystic FibrosisHomozygous F508del Mutation

Keywords

CYSTIC FIBROSISORKAMBI

Outcome Measures

Primary Outcomes (1)

  • Percentage of FEV1

    Absolute change in the percentage of predicted forced expiratory volume in 1 second (%FEV1) from baseline to week 24 of Orkambi®

    Baseline, Week 24

Secondary Outcomes (14)

  • Z-score of FEV1

    Baseline, Week 24, week 48

  • Percentage of FEV1

    Week 48

  • % of FVC

    Baseline, Week 24 and week 48

  • % of RFC

    Baseline, Week 24 and week 48

  • Lung clearance index

    Baseline, Week 48

  • +9 more secondary outcomes

Interventions

Nasal brushingDIAGNOSTIC_TEST

Nasal scrapping at visit V0

Sputum sampleOTHER

Visit V0 : 1 Aliquot for Sputum biobank Visit V1 : 2 Aliquots * for Sputum biobank * for pharmacokinetic (PK) study Visit V2 : 2 Aliquots * for Sputum biobank * for pharmacokinetic (PK) study

blood sampleOTHER

Visit V0 : Additional 14 mL * 5 mL in ethylenediaminetetraacetic acid (EDTA) tube for DNA Analysis * 3 mL in Dry tube for Serum biobank * 6 mL in acid citrate dextrose (ACD) tube for peripheral blood mononuclear cell (PBMC) biobank Visit V1 : Additional 9 mL * 2x3 mL in dry tube for pharmacokinetic (PK) study * 3 mL in Dry tube for Serum biobank Visit V2 : Additional 6 mL * 3 mL in dry tube for pharmacokinetic (PK) study * 3 mL in Dry tube for Serum biobank

OrkambiDRUG

Study the predictive value for improvement of the respiratory function after 24 weeks of Orkambi treatment. Orkambi treatment is part of usual care.

Eligibility Criteria

Age5 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Homozygous F508del patient aged 5 years or older
  • Patient with an indication for Orkambi® treatment according to the marketing authorization application
  • Patient never received Orkambi® in the past
  • Patient able to perform FEV1
  • Signed Informed consent form by the patient (if aged ≥ 18 years), or by parents / legal guardian and patient's agreement (if aged \< 18 years) Patient affiliated to the health insurance system

You may not qualify if:

  • Homozygous F508del patients who do not meet the treatment indications according to the marketing authorization application
  • Patients refusing Orkambi®
  • CF patients not homozygous for the p.Phe508del mutation
  • Active smoker
  • Severe nasal mucosa disrepair
  • Contraindications to xylocaine anesthesia,
  • Participation with another interventional study with drug

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, Île-de-France Region, 75015, France

Location

Related Publications (1)

  • Bouazza N, Urien S, Foissac F, Choupeaux L, Lui G, Froelicher Bournaud L, Rouillon S, Zheng Y, Bardin E, Stremler N, Bessaci K, Bihouee T, Coirier-Duet E, Marguet C, Deneuville E, Laurans M, Reix P, Gerardin M, Mittaine M, Epaud R, Thumerelle C, Weiss L, Berthaud R, Semeraro M, Treluyer JM, Benaboud S, Sermet-Gaudelus I. Lumacaftor/Ivacaftor Population Pharmacokinetics in Pediatric Patients with Cystic Fibrosis: A First Step Toward Personalized Therapy. Clin Pharmacokinet. 2024 Mar;63(3):333-342. doi: 10.1007/s40262-023-01342-3. Epub 2024 Feb 4.

    PMID: 38310629RESULT

MeSH Terms

Conditions

Cystic Fibrosis

Interventions

Blood Specimen Collectionlumacaftor, ivacaftor drug combination

Condition Hierarchy (Ancestors)

Pancreatic DiseasesDigestive System DiseasesLung DiseasesRespiratory Tract DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesInfant, Newborn, Diseases

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • ISABELLE SERMET, PhD

    Hospital Necker Enfants Malades

    PRINCIPAL INVESTIGATOR

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

February 12, 2019

First Posted

March 28, 2019

Study Start

December 18, 2019

Primary Completion

November 25, 2021

Study Completion

May 12, 2022

Last Updated

March 10, 2026

Record last verified: 2026-03

Locations

FR(1)