National Cohort Study of Pulmonary Arterial Hypertension
Research type
Research Study
Full title
National Cohort Study of Idiopathic and Heritable Pulmonary Arterial Hypertension
IRAS ID
123349
Contact name
Nicholas Morrell
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust Research and Development Department
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
Pulmonary arterial hypertension (PAH), or high pressure in the lungs, is a rare condition affecting younger people that shortens life. Patients with severe PAH die of heart failure. Although the cause of this disease is usually unknown, in about 15-20% of cases there is mutation in a gene that controls how blood vessels grow and function. The gene is called BMPR2. Although mutations in BMPR2 are a major risk factor for PAH, not everyone with a mutation will develop the disease. Other factors are likely to contribute. We suspect that mutations in similar genes are responsible for other cases of PAH. In this study we aim to recruit all patients in the UK with a rare form of PAH and their first degree family members and follow them up for several years. We hope to discover new mutations for this disease and to determine what environmental or genetic factors lead to poor outcome, and to understand the triggers that lead to disease in patients with mutations.
REC name
East of England - Cambridgeshire and Hertfordshire Research Ethics Committee
REC reference
13/EE/0203
Date of REC Opinion
9 Sep 2013
REC opinion
Further Information Favourable Opinion