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Trial record 1 of 1 for:    NCT03902353
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Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers (DELPHI-4)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03902353
Recruitment Status : Recruiting
First Posted : April 4, 2019
Last Update Posted : January 21, 2020
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief Summary:
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

Condition or disease Intervention/treatment Phase
Mutation Genetic Syndrome Other: Screening of adult without diagnosis of PH carrying an heterozygous EIF2AK4 mutation. Not Applicable

Detailed Description:

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
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

Arm Intervention/treatment
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.




Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. 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



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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).

Information from the National Library of Medicine

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


Contacts
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Contact: MONTANI David, PhD 01.45.21.79.76 david.montani@aphp.fr
Contact: GIRERD Barbara, MPCG, PhD 01 45 21 79 72 barbara.girerd@aphp.fr

Locations
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France
David MONTANI Recruiting
Le Kremlin-Bicêtre, Krémlin Bicêtre, France, 94270
Contact: David MONTANI, MD    01.45.21.79.76    david.montani@aphp.fr   
Contact: Marc HUMBERT, PhD    01.45.21.79.76    marc.humbert@aphp.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
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Study Chair: MONTANI David, PhD Assistance Publique - Hôpitaux de Paris

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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT03902353    
Other Study ID Numbers: K180501J
First Posted: April 4, 2019    Key Record Dates
Last Update Posted: January 21, 2020
Last Verified: July 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Assistance Publique - Hôpitaux de Paris:
Pulmonary veino occlusive disease, pulmonary hypertension