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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)
Full description
What does the study involve?
PAH patients will be seen at their local centre by their service team but they will have additional bloods taken. Relatives of PAH patients will be seen every year at their nearest PAH centre. Tests will include:
Controls:Blood sample and medical data collected once
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Inclusion and exclusion criteria
Inclusion Criteria:
Inclusion Criteria-Patient
Exclusion Criteria-Patient
The participant may not enter the study if ANY of the following apply:
Exclusion Criteria-Relative
The participant may not enter the study if ANY of the following apply:
• Patient is unable to give informed consent.
Inclusion criteria-Controls
3,600 participants in 2 patient groups
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Central trial contact
Carmen Treacy; Nicholas Morrell
Data sourced from clinicaltrials.gov
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