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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

    nwm23@cam.ac.uk

  • Sponsor organisation

    Cambridge Univerisity Hospitals NHS Foundation Trust and the University of Cambridge

  • 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