Idiopathic BronchiectasisNCT04417777
Genetic Study of the Dilatations of the Idiopathic Bronchi in French Polynesia
An observational study of Idiopathic Bronchiectasis, run by Centre Hospitalier Intercommunal Creteil at 1 site in French Polynesia.
Trial summary
Bronchiectasis, defined by an increase in bronchial caliber and thickening of the bronchial wall, is associated with recurrent respiratory infections, chronic cough and bronchorrhea, and a frequent progression to chronic respiratory failure. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Idiopathic Bronchiectasis
- What is being tested?
- Blood Test
- How many people
- 20 participants
- Where
- 1 siteFrench Polynesia
- Study dates
- 10 Feb 2022to 8 Aug 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Polynesian patient with dilatation of idiopathic bronchi
Who may be able to join
- Polynesian adult more than18 years
- dilatation of idiopathic bronchi confirmed to thoracic CTscan
- Negative etiological balance (including sweat test, research of Dyskinesia Ciliary Primitive and immunological check-up)
- Appearance of symptoms in childhood, or family history of chronic bronchial disease, or notion of inbreeding
- Signed consent
- Affiliated with a social security system
Who cannot join
- Refusal to participate in the study
- Relatives
- First-degree healthy relatives
- Polynesian adult more than 18 years
- Signed consent
- Affiliated with a social security system
- Refusal to participate in the study
Trial locations and contacts
1 site in 1 country.
French Polynesia1 site
CH Polynesie Française
Papeete
About this study
Official title: Etude génétique Des Dilatations Des Bronches Idiopathiques en Polynésie française
Bronchiectasis, defined by an increase in bronchial caliber and thickening of the bronchial wall, is associated with recurrent respiratory infections, chronic cough and bronchorrhea, and a frequent progression to chronic respiratory failure. Investigator distinguish focal bronchiectasis usually resulting from a localized cause and diffuse bronchiectasis which the possible causes are multiple (immune deficiencies, genetic diseases, auto immune pathologies, aspergillosis broncho -allergic lung, sequelae of pulmonary infections).The etiological assessment is negative in 26 to 53% of cases, defining the idiopathic bronchiectasis. However, the discovery of an underlying cause can change the patient's management (up to 37% of cases).
Despite the lack of epidemiological data in French Polynesia, Australian and New Zealand studies found a high prevalence of bronchiectasis in Polynesians. Few clinical studies published in the early 1980s suggested a ciliary origin.
Read more
Due to its geographic characteristics, the Polynesian population constitutes an interesting ethnic group. Indeed, there is a low genetic mixing and the prevalence of certain genetic diseases like the syndrome of Alport or some hereditary retinal dystrophies are high. This type of population is very suitable for discovering new genes in human pathology.
Investigator decided to conduct an observational study to find an underlying genetic cause of bronchiectasis in Polynesians by performing a whole exome sequencing. Investigator chose to study index cases defined by an upset of symptoms during the childhood, a family history of idiopathic bronchiectasis, and/or a consanguinity. Investigator also want to study healthy first degree relatives, in order to be able to better identify the clinical significant of DNA variants and focus the analysis on those that may be pathogenic
- Conditions
- Idiopathic Bronchiectasis
- Being tested
- Blood Test
- Keywords
- Genetic Disease, Idiopathic Bronchiectasis Polynesia, polynesia
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood TestGenetic
Blood analysis
| Study group | Role | What they receive |
|---|---|---|
| Polynesian patient | Patient with dilatation of idiopathic bronchi Receives: Genetic: Blood Test | |
| Relatives of polynesian patient | Healthy Receives: Genetic: Blood Test |
What is being measured
The primary outcome is the main question the study is designed to answer.
identification of genetic mutation
New mutation in the coding region or mutation located outside the coding regions on the transcriptome
Measured: Anytime in the period of 10 years
Secondary outcomes (4)
Clinical phenotype
Extra-respiratory history Bronchial colonizations Scannographic aspect
Measured: Anytime in the period of 10 years
scannographic description
Extra-respiratory history Bronchial colonizations Scannographic aspect
Measured: Anytime in the period of 10 years
Effect on the splicing of messenger RNA
correlation genotype/phenotype
Measured: Anytime in the period of 10 years
transcriptome of patients
correlation genotype/phenotype
Measured: Anytime in the period of 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2020
- Study start10 Feb 2022
- Primary completion8 Mar 2022
- Study completion8 Aug 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Idiopathic BronchiectasisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Intercommunal Creteil
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04417777
- Sponsor's protocol ID
- POLYGENET
- Status last verified
- Aug 2024
- First submitted
- 26 May 2020
- Last updated
- 14 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Etude génétique Des Dilatations Des Bronches Idiopathiques en Polynésie française
- ClinicalTrials.gov ID
- NCT04417777
- Acronym / sponsor ID
- POLYGENET
- Conditions
- Idiopathic Bronchiectasis
- Keywords
- Genetic Disease, Idiopathic Bronchiectasis Polynesia, polynesia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Centre Hospitalier Intercommunal CreteilUniversity, hospital or other
- Study start
- 10 Feb 2022 (actual)
- Primary completion
- 8 Mar 2022 (actual)
- Study completion
- 8 Aug 2024 (actual)
- First posted
- 5 Jun 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Bronchiectasis, defined by an increase in bronchial caliber and thickening of the bronchial wall, is associated with recurrent respiratory infections, chronic cough and bronchorrhea, and a frequent progression to chronic respiratory failure. Investigator distinguish focal bronchiectasis usually resulting from a localized cause and diffuse bronchiectasis which the possible causes are multiple (immune deficiencies, genetic diseases, auto immune pathologies, aspergillosis broncho -allergic lung, sequelae of pulmonary infections).The etiological assessment is negative in 26 to 53% of cases, defining the idiopathic bronchiectasis. However, the discovery of an underlying cause can change the patient's management (up to 37% of cases).
Despite the lack of epidemiological data in French Polynesia, Australian and New Zealand studies found a high prevalence of bronchiectasis in Polynesians. Few clinical studies published in the early 1980s suggested a ciliary origin.
Due to its geographic characteristics, the Polynesian population constitutes an interesting ethnic group. Indeed, there is a low genetic mixing and the prevalence of certain genetic diseases like the syndrome of Alport or some hereditary retinal dystrophies are high. This type of population is very suitable for discovering new genes in human pathology.
Investigator decided to conduct an observational study to find an underlying genetic cause of bronchiectasis in Polynesians by performing a whole exome sequencing. Investigator chose to study index cases defined by an upset of symptoms during the childhood, a family history of idiopathic bronchiectasis, and/or a consanguinity. Investigator also want to study healthy first degree relatives, in order to be able to better identify the clinical significant of DNA variants and focus the analysis on those that may be pathogenic
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Polynesian patient | – | Genetic: Blood TestPatient with dilatation of idiopathic bronchi |
| Relatives of polynesian patient | – | Genetic: Blood TestHealthy |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Polynesian patient with dilatation of idiopathic bronchi
Key inclusion criteria (6 listed)
- Polynesian adult more than18 years
- dilatation of idiopathic bronchi confirmed to thoracic CTscan
- Negative etiological balance (including sweat test, research of Dyskinesia Ciliary Primitive and immunological check-up)
- Appearance of symptoms in childhood, or family history of chronic bronchial disease, or notion of inbreeding
- Signed consent
Key exclusion criteria (7 listed)
- Refusal to participate in the study
- Relatives
- First-degree healthy relatives
- Polynesian adult more than 18 years
- Signed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood TestBlood analysis | Genetic | Polynesian patient, Relatives of polynesian patient |
Primary outcome
identification of genetic mutation
Time frame: Anytime in the period of 10 years
New mutation in the coding region or mutation located outside the coding regions on the transcriptome
4 secondary outcomes
Clinical phenotype
Time frame: Anytime in the period of 10 years
scannographic description
Time frame: Anytime in the period of 10 years
Effect on the splicing of messenger RNA
Time frame: Anytime in the period of 10 years
transcriptome of patients
Time frame: Anytime in the period of 10 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Aug 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Idiopathic Bronchiectasis, run by Centre Hospitalier Intercommunal Creteil at 1 site in French Polynesia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 14 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in French Polynesia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
identification of genetic mutation (time frame: Anytime in the period of 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Aug 2024.