NCT04254705

Brief Summary

In contrary to what is seen in FRT cells, rectal organoids of patients with a R334W mutation do respond to CFTR modulators ivacaftor and lumacaftor. The present study will investigate the response to modulators in organoids of 30 patients with CF and a R334W mutation, to allow further stratificaton for a future clinical trial assessing the clinical effect of ivacaftor/tezacaftor in patients with CF and a R334W mutation.

Trial Health

37
At Risk

Trial Health Score

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

Trial has exceeded expected completion date
Timeline
Completed

Started Mar 2020

Geographic Reach
5 countries

12 active sites

Status
withdrawn

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

January 27, 2020

Completed
9 days until next milestone

First Posted

Study publicly available on registry

February 5, 2020

Completed
25 days until next milestone

Study Start

First participant enrolled

March 1, 2020

Completed
6 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2020

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2021

Completed
Last Updated

April 18, 2023

Status Verified

February 1, 2020

Enrollment Period

6 months

First QC Date

January 27, 2020

Last Update Submit

April 13, 2023

Conditions

Cystic Fibrosis

Outcome Measures

Primary Outcomes (1)

  • Response to CFTR-modulator in Intestinal Organoids: Increase in Forskolin induced swelling by addition of tezacaftor+ivacaftor after stimulation with Forskolin (0.8 µmol/L)

    Response to tezacaftor+ivacaftor in the Forskolin Induced Swelling (FIS) assay in rectal organoids

    At study completion (when rectal biopsy is performed or when organoids are retrieved from the biobank and FIS has been performed), an average of 2 months

Study Arms (1)

Subjects with CF and R334W mutation

OTHER

Subjects with CF and R334W mutation

Procedure: Rectal Biopsy

Interventions

Rectal BiopsyPROCEDURE

Suction biopsy or forceps biopsy

Subjects with CF and R334W mutation

Eligibility Criteria

Age12 Years - 99 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • In order to be eligible to participate in this study, a subject must meet all of the following criteria:
  • Male or female with confirmed diagnosis of CF. The subject must have the following:
  • a. One or more characteristic phenotypic features, such as chronic cough and sputum production, persistent chest radiograph abnormalities, or airway obstruction manifested by wheezing and air trapping; or a history of CF in a sibling; or a positive newborn screening test result;
  • Two CFTR mutations identified of which one is R334W OR only the R334W mutation identified and a sweat chloride value above 60 mmol/L
  • Age 12 years and older
  • Subject will sign and date an informed consent form (ICF) and or assent (for subjects 12 to 16 years old).

You may not qualify if:

  • A potential subject who meets any of the following criteria will be excluded from participation:
  • Subject has one of the following CFTR-mutations:
  • G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, S549R, R117H, P67L, R117C, L206W, R352Q, A455E, D579G, 711+3A\>G, S945L, S977F, R1070W, D1152H, 2789+5G\>A, 3272 26A\>G, 3849+10kbC\>T
  • A history of hemorrhoids and recent rectal bleeding
  • FEV1 above 90% predicted or below 30% predicted during stable disease
  • History of lung transplantation.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (12)

University Hospital of Leuven

Leuven, Belgium

Location

Centre Hospitalier Lyon Sud

Lyon, France

Location

Centre Hospitalier Régional Universitaire Montpellier

Montpellier, France

Location

Hôpital Cochin

Paris, France

Location

Hôpital Necker

Paris, France

Location

Instituto G. Gaslini

Genova, Italy

Location

Fondazione Ospedale Maggiore Policlinico

Milan, Italy

Location

Ospedale Pediatrico Bambino Gesù

Roma, Italy

Location

Sapienza university - Centra Fibrosi Cistica Regione Lazio

Roma, Italy

Location

Azieda Ospedaliera Universitaria Integrata

Verona, Italy

Location

Hospital Santa Maria

Lisbon, Portugal

Location

Hospital Universitari Vall d'Hebron

Barcelona, Spain

Location

MeSH Terms

Conditions

Cystic Fibrosis

Condition Hierarchy (Ancestors)

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

Study Officials

  • François Vermeulen, MD PhD

    Universitaire Ziekenhuizen KU Leuven

    PRINCIPAL INVESTIGATOR
0

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
OTHER
Intervention Model
SINGLE GROUP
Model Details: For stratification of subjects in the subsequent clinical trial
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 27, 2020

First Posted

February 5, 2020

Study Start

March 1, 2020

Primary Completion

September 1, 2020

Study Completion

March 1, 2021

Last Updated

April 18, 2023

Record last verified: 2020-02

Data Sharing

IPD Sharing
Will not share

Locations

IT(5)PT(1)ES(1)BE(1)FR(4)