Screening of Pulmonary Arterial Hypertension in BMPR2 Mutation Carriers

NCT01600898 | Completed DMC

• 2 other identifiers: P100104AOM 10175
• Study Type: observational
• Target: 55
• Locations: 1 country
• Sites: 1

Brief Summary

In this prospective study, the investigators will implement a systematic screening program and 3-year follow-up in a cohort of asymptomatic BMPR2 mutation carriers. This study is designed to:

• determine predictive factors (biological, functional, radiological and hemodynamic) of development of PAH
• monitor these subjects' clinical, functional, biological, echocardiographic and hemodynamic characteristics
• assess the risk of occurrence of PAH
• screen patients with PAH at an early stage of disease and offer them an early management
• constitute a collection of biological samples (0, 12, 24 months follow-up) of asymptomatic BMPR2 mutation carriers.

Conditions

Pulmonary Arterial Hypertension

Keywords

Asymptomatic carriers of a BMPR2 mutation; follow up study

Outcome Measures

Primary Outcomes (1)

• predictive factors of the occurrence of PAH

  follow prospectively a cohort of asymptomatic BMPR2 mutation carriers to determine predictive factors of the occurrence of PAH.

  2 years

Secondary Outcomes (1)

• Evolution of characteristics of asymptomatic BMPR2 mutation carriers

  2 years

Study Arms (1)

Asymptomatic BMPR2 mutation carriers

Asymptomatic BMPR2 mutation carriers

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

asymptomatic BMPR2 mutation carriers.

You may qualify if:

• men and women over 18 years old,
• carriers of a BMPR2 mutation without known PAH,
• having given his informed consent

You may not qualify if:

• men and women under 18 years old,
• patients with a known PAH,
• pregnant women,
• adults protected,
• detainees,
• people in emergencies,
• people refusing or unable to give informed consent,
• no affiliation to a regime of social security.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

David Montani

Le Kremlin-Bicêtre, 94270, France

Location

Related Publications (1)

• Montani D, Girerd B, Jais X, Laveneziana P, Lau EMT, Bouchachi A, Hascoet S, Gunther S, Godinas L, Parent F, Guignabert C, Beurnier A, Chemla D, Herve P, Eyries M, Soubrier F, Simonneau G, Sitbon O, Savale L, Humbert M. Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation. Eur Respir J. 2021 Jul 22;58(1):2004229. doi: 10.1183/13993003.04229-2020. Print 2021 Jul.

  PMID: 33380512 RESULT

Related Links

• We thank the funding program PHRC that funded this study. We thank the Clinical Research Unit Paris Sud (Bicetre hospital - APHP) for monitoring and coordinating this study.

MeSH Terms

Conditions

Pulmonary Arterial Hypertension

Condition Hierarchy (Ancestors)

Hypertension, Pulmonary; Lung Diseases; Respiratory Tract Diseases

Study Officials

• David Montani, Md, PhD

  Assistance-Publique Hôpitaux de Paris, Hôpital Bicêtre, Service de pneumologie

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 15, 2012
• First Posted: May 17, 2012
• Study Start: March 1, 2012
• Primary Completion: July 1, 2016
• Study Completion: July 1, 2016
• Last Updated: January 13, 2021

Record last verified: 2019-11

Locations

FR (1)