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National Cohort Study of Idiopathic and Heritable Pulmonary Arterial Hypertension

NCT01907295 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 3600

Last updated 2022-05-20

No results posted yet for this study

Summary

Pulmonary arterial hypertension (PAH), or high blood pressure in the lungs, is a rare condition that can shorten life. Although the cause of this disease is usually unknown, in about 70% of heritable and 15-20% of idiopathic cases there is a change in a gene (a mutation) that controls how blood vessels grow and function. The gene is called bone morphogenetic protein type receptor 2 (BMPR2). Although mutations in BMPR2 are a risk factor for PAH, not everyone with a mutation gets the disease. Additional genetic and environmental factors are likely to contribute. The investigators suspect that mutations in other genes are responsible for some cases of PAH. In this study the investigators aim to recruit all patients with PAH and some of their relatives and follow them up for several years. The investigators hope to discover new mutations for this disease and to determine what factors lead to poor outcome, and to understand what triggers disease in patients with mutations.

Who can participate? Adults with PAH, their relatives and controls (one off blood sample)

Conditions

Sponsors & Collaborators

Principal Investigators

  • Nicholas Morrell · University of Cambridge

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2014-02-28
Primary Completion
2022-12-31
Completion
2022-12-31

Countries

  • United Kingdom

Study Locations

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Diseases
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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01907295 on ClinicalTrials.gov