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Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers (DELPHI-4)
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
Details
| Lead sponsor | Assistance Publique - Hôpitaux de Paris |
|---|---|
| Phase | NA |
| Status | UNKNOWN |
| Enrolment | 20 |
| Start date | Mon Sep 23 2019 00:00:00 GMT+0000 (Coordinated Universal Time) |
| Completion | Wed Sep 01 2021 00:00:00 GMT+0000 (Coordinated Universal Time) |
Conditions
- Mutation
- Genetic Syndrome
Interventions
- Screening of adult without diagnosis of PH carrying an heterozygous EIF2AK4 mutation.
Countries
France