Mutation Clinical Trial
— DELPHI-4Official title:
Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers
Pulmonary Veino Occlusive Disease (PVOD) is a rare form of pulmonary arterial hypertension, characterised by a poor prognosis. Recent studies demonstrated that heritable form of pulmonary veino occlusive diseaseis due to bi-allelic mutations in EIF2AK4 gene. heritable pulmonary veino occlusive disease is an autosomal recessive disease. In the french referal center of severe PH, ulmonary veino occlusive disease patients carriers of bi-allelic mutations in EIF2AK4 gene were identified. Genetic counselling in these families allowed to identified herozygous carriers of a single mutation in EIF2AK4 gene. However, to date, nothing is known about the risk of these persons of developping pulmonary diseases. It appears essential to determine the clinical, functional, echocardiographic and radiologics characteristics of these persons, and their risk of developping Pulmonary veino occlusive disease
Status | Recruiting |
Enrollment | 20 |
Est. completion date | September 1, 2021 |
Est. primary completion date | September 1, 2020 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 18 Years and older |
Eligibility |
Inclusion Criteria: - Male or female adult (age =18 years of age at the date of inclusion), - With an identification of the presence of a mutation of the EIF2AK4 gene in the heterozygous state, - Having given free and informed consent. Exclusion Criteria: - Minor (age <18 years), - Patient with known Pulmonary veino occlusive disease or Pulmonary arterial hypertension - Woman having started a pregnancy or breastfeeding - protected adult persons, - Persons deprived of their liberty, - People in emergency, - Those who refused or were unable to give informed consent, - Contraindication to the exercise test (acute coronary syndrome, syncope, tight stenotic valve disease ...) See the list of relative and absolute contraindications to the exercise test (chapter 6.2). - No affiliation to a social security scheme (beneficiary or beneficiary). |
Country | Name | City | State |
---|---|---|---|
France | David MONTANI | Le Kremlin-Bicêtre | Krémlin Bicêtre |
Lead Sponsor | Collaborator |
---|---|
Assistance Publique - Hôpitaux de Paris |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Evolution of characteristics of asymptomatic heterozyous EIF2AK4 mutation carriers and monitor these subjects' clinical, functional, biological, echocardiographic | frequency of abnormalities observed | 1 year | |
Secondary | 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 | number of heterozygous EIF2AK4 mutation carriers who will develop Pulmonary Veno-Occlusive Disease | 1 year |
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