Genetic Study of Familial Forms of Non-atopic Asthma (NCT02911220) | Clinical Trial Compass
TerminatedNot Applicable
Genetic Study of Familial Forms of Non-atopic Asthma
Stopped: not enough available families to get significant genetic results
France2 participantsStarted 2020-02-26
Plain-language summary
The intrinsic asthma (atopic or not) is a particular phenotype marked by an early later symptoms, increased severity, sensitivity associated with nonsteroidal anti-inflammatory drugs (NSAIDs), a sinonasal polyposis and eosinophilia.
Unlike allergic asthma, this form does not today demonstrated its genetic character. However, the existence of familial forms of asthma in this region Pays de La Loire led us to hypothesize the existence of genetic variations can explain some familial forms of non-atopic asthma. Corresponding genes may be relevant to understanding the pathophysiological pathways involved in the more common sporadic forms.
The investigators propose a study combining genetic linkage analysis and complete sequencing exomes to identify one or more genetic abnormalities associated with non-atopic asthma. The clinical stage essential for mutation identification is to identify and recruit large families with members affected by non-atopic asthma and ensure accurate phenotyping of all individuals recruited over several generations.
The aim of this study is to create a cohort of families who have more members within them non-atopic asthma. A high genetic combined exome sequencing throughput analysis in a family linkage study will then reveal the presence or absence of genetic variations associated with intrinsic asthma.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* index case:
* Major
* Lack of respiratory disease documented in the medical record other than asthma
* Severe Asthma by definition ATS / ERS 2014:
* Treatment with high doses of CI and beta2 agonists for long-acting (B2LDA) or anti leukotriene or theophylline during the previous year or oral corticosteroids (CO) more than 50% from the previous year to prevent loss of control asthma.
* Asthma "uncontrolled" (at least 1 criteria):
* ACT \<20 and / or ACQ\> 1.5 (Asthma Control Test)
* 2 courses or more CO in the previous year
* 1 hospitalization for asthma in the previous year
* FEV \<80% predicted despite bronchodilators.
* Examination or medical record to find at least one member of the genetically non-atopic asthma associated family
* Prick negative tests for common allergens, questionnaire seeking negative atopy (SFAR Love) Phadiatop or negative diagnosis of non-atopic asthma confirmed by the adjudication committee
* informed and written consent of the patient to participate in the study
* Affiliated to a social security scheme
Exclusion Criteria:
* Pregnant women
* Minors
\- Known associated respiratory pathologies (COPD, bronchial dilatation, diffuse infiltrating pneumopathy)
* Major Trust
* Subject having demonstrated the inability or refusal to sign an informed consent
Relatives' patients:
* Major
* Related to the 1st and 2nd level of the index case or another member with family
* Related with or without a asthma (atopic or n…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
broadband genetic and fine characterization of the phenotype in familial forms.