Clinical Trial: National Cohort Study of Idiopathic and Heritable Pulmonary Arterial Hypertension

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: National Cohort Study of Idiopathic and Heritable Pulmonary Arterial Hypertension

Brief 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)


Detailed Summary:

What does the study involve?

PAH patients will be seen at their local centre by their service team but they will have additional bloods and urine samples taken. Relatives of PAH patients will be seen every 6 months at their nearest PAH centre. Tests will include:

  • Epidemiology Questionnaire to assess factors affecting health
  • An echocardiogram (ECHO) to assess the size, shape, pumping action and the extent of any damage to the heart.
  • Lung function tests which include blowing measurements to assess gas volumes within the lungs as well as assessment of how the lungs exchange gases.
  • Optional right heart catheterisation (RHC) to determine how much blood your heart is pumping while you are resting and on exercise. Optional Cardiac Magnetic Resonance tests. To measure heart function. ( to be done only once)
  • 6 minute walk test. To measure exercise capacity
  • Cardiopulmonary exercise test. A bicycle exercise test, which will indicate how much blood your heart pumps while resting and with different levels of exercise.
  • Electrocardiogram (ECG), a test that measures the electrical activity of the heart
  • Blood tests
  • Urine

Controls:Blood sample and medical data collected once


Sponsor: University of Cambridge

Current Primary Outcome: To recruit a national cohort (1000 subjects) of heritable and idiopathic PAH cases. [ Time Frame: 5 years ]

The purpose of this study is to set up a national cohort of heritable and idiopathic PAH cases and their relatives, to study the genetic and environmental contributions to disease. Setting up of this cohort of patients and relatives will provide the best resource for understanding what causes or triggers the disease, how to predict risk of death and response to therapy in individual patients, and to provide new ways of preventing and treating pulmonary arterial hypertension. The study will enable a better understanding for the first time the natural history of PAH, whether inherited or not. National outcomes to be measured will include survival, progression of the disease, changes in 6 minute walk distance, admissions to hospital for PAH and cause of death. Incidence of new cases of PAH will be measured in relatives as well.


Original Primary Outcome: Same as current

Current Secondary Outcome: To recruit PAH patients (1000) and family members to a Biorepository for serum/plasma and urine to identify biomarkers of disease onset, progression and response to treatment. [ Time Frame: 5 years ]

To establish a Biorepository for serum/plasma, urine, tissues and cells from heritable pulmonary arterial hypertension (HPAH) patients and their relatives, and patients with idiopathic PAH. This will allow studies to identify novel biomarkers of disease onset, progression and response to individual or combination therapies.


Original Secondary Outcome: Same as current

Information By: University of Cambridge

Dates:
Date Received: July 8, 2013
Date Started: February 2014
Date Completion: August 2018
Last Updated: October 26, 2016
Last Verified: October 2016