Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers (DELPHI-4)
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|ClinicalTrials.gov Identifier: NCT03902353|
Recruitment Status : Recruiting
First Posted : April 4, 2019
Last Update Posted : January 21, 2020
|Condition or disease||Intervention/treatment||Phase|
|Mutation Genetic Syndrome||Other: Screening of adult without diagnosis of PH carrying an heterozygous EIF2AK4 mutation.||Not Applicable|
the investigators will evaluate the subjects at inclusion after informed by a clinical evaluation (dyspnea assessed by New York Heart Association functional class (I-IV), signs of right heart failure), a 6min walk test, a Computerized Tomography scan of the chest, an electrocardiogram, an echocardiography , an abdomina ulstrasound, a Cardiopulmonary exercise testing, a lung function tests , arterial blood gases.
At one and two years, a phone call will be made to to participants evaluate dyspnea and intercurrent events in all subjects. In the presence of pulmonary veino occlusive diseaseis symptoms, a new evaluation will be proposed in order to confirm of not pulmonary veino occlusive diseaseis.
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||20 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers|
|Actual Study Start Date :||September 23, 2019|
|Estimated Primary Completion Date :||September 1, 2020|
|Estimated Study Completion Date :||September 1, 2021|
Adults without diagnosis of PH
Adults without diagnosis of PH carrying an heterozygous EIF2AK4
Other: Screening of adult without diagnosis of PH carrying an heterozygous EIF2AK4 mutation.
will be performed : a clinical evaluation (dyspnea assessed by New York Heart Association functional class (I-IV), signs of right heart failure), a 6min walk test, a Computerized Tomography scan of the chest, an electrocardiogram, an echocardiography (measurement of the velocity of tricuspid regurgitation, measurement of Tricuspid Annular Plane Systolic Excursion (TAPSE) and Tei index, pericardial effusion, dilatation and hypertrophy of the right ventricle), an abdomina ulstrasound, a stress Test (ventilation oxygen peak and ventilation oxygen specific, minute ventilation, dead-space ventilation / dead space, ventilatory reserve, alveolar-arterial gradient, pulse oxygen, PaO2), a lung function tests and measurement of Diffusing capacity or transfer factor of the Lung for Carbon mOnoxide (DLCO) and Nitric Oxide (DLNO), and a blood sample.
- Evolution of characteristics of asymptomatic heterozyous EIF2AK4 mutation carriers and monitor these subjects' clinical, functional, biological, echocardiographic [ Time Frame: 1 year ]frequency of abnormalities observed
- predictive factors of the occurrence of PVOD follow prospectively a cohort of asymptomatic heterozyous EIF2AK4 mutation carriers to determine predictive factors of the occurrence of VOD [ Time Frame: 1 year ]number of heterozygous EIF2AK4 mutation carriers who will develop Pulmonary Veno-Occlusive Disease
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03902353
|Contact: MONTANI David, PhDemail@example.com|
|Contact: GIRERD Barbara, MPCG, PhD||01 45 21 79 firstname.lastname@example.org|
|Study Chair:||MONTANI David, PhD||Assistance Publique - Hôpitaux de Paris|