Genetic Study of the Dilatations of the Idiopathic Bronchi in French Polynesia

NCT04417777 | Completed

• 1 other identifier: POLYGENET
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief 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. 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

Conditions

Idiopathic Bronchiectasis

Keywords

Genetic Disease; Idiopathic Bronchiectasis Polynesia; polynesia

Outcome Measures

Primary Outcomes (1)

• identification of genetic mutation

  New mutation in the coding region or mutation located outside the coding regions on the transcriptome

  Anytime in the period of 10 years

Secondary Outcomes (4)

• Clinical phenotype

  Anytime in the period of 10 years

• scannographic description

  Anytime in the period of 10 years

• Effect on the splicing of messenger RNA

  Anytime in the period of 10 years

• transcriptome of patients

  Anytime in the period of 10 years

Study Arms (2)

Polynesian patient

Patient with dilatation of idiopathic bronchi

Genetic: Blood Test

Relatives of polynesian patient

Healthy

Genetic: Blood Test

Interventions

Blood Test GENETIC

Blood analysis

Polynesian patient; Relatives of polynesian patient

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Polynesian patient with dilatation of idiopathic bronchi

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Centre Hospitalier Intercommunal Creteil: lead

Study Sites (1)

CH Polynesie Française

Papeete, French Polynesia

Location

Biospecimen

Retention: SAMPLES WITH DNA

ADN and ARN are collected

MeSH Terms

Conditions

Genetic Diseases, Inborn

Interventions

Hematologic Tests

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 26, 2020
• First Posted: June 5, 2020
• Study Start: February 10, 2022
• Primary Completion: March 8, 2022
• Study Completion: August 8, 2024
• Last Updated: August 14, 2024

Record last verified: 2024-08

Locations

FR (1)