Exhaled Breath Olfactory Signature of Pulmonary Arterial Hypertension
Condition: Pulmonary Hypertension
MeSH terms: Hypertension, Pulmonary; Pulmonary Arterial Hypertension; Hypertension
Study type: Interventional

Summary: 
      In this prospective case-control study, the investigators will evaluate the diagnostic
      performance of a novel electronic nose (E-nose) for the detection of Pulmonary Arterial
      Hypertension (PAH). This study is designed to:

        1. Assess the performance of the E-nose to discriminate controls from patients with PAH

        2. Assess the performance of the E-nose to discriminate between different subtypes of
           pulmonary hypertension (PH), namely idiopathic PAH, heritable PAH with BMPR2 mutation
           and chronic thromboembolic PH

        3. Assess the performance of the E-nose to discriminate controls from asymptomatic patients
           with PH who carry BMPR2 mutations.
    

Detailed description: 
      Pulmonary arterial hypertension (PAH) is a progressive and rare severe disease (prevalence of
      15-50 per million) due to obstruction of small pulmonary arteries, leading to an increase in
      pulmonary artery pressure with the ultimate consequence right heart failure. Despite recent
      advances in therapeutic care, there is no cure and most patients die or require lung
      transplantation within 5 years of diagnosis. Currently, right heart catheterisation is
      required to diagnose PAH and monitor response to treatment. Right heart catheterisation is an
      invasive test, and alternatives such as echocardiography have not yielded sufficient accuracy
      both for early diagnosis and disease monitoring. Currently, PAH is often diagnosed at an
      advanced stage of the disease. There is often a delay in diagnosis of several years between
      the first symptoms and the identification of the disease due to the non-specific nature of
      symptoms. Hence, there is the need to improve the time between the first signs and definitive
      diagnosis of the disease. Early diagnosis of PAH remains a challenge due to the low
      sensitivity and specificity of biomarkers available currently.

      The main objective is to validate the results obtained in the previous preliminary proof of
      concept study - that PAH patients display a unique olfactory signature that can be detected
      by an artificial E- nose.

      Secondary objectives are to investigate the ability of the E-nose to:

        -  Discriminate patients with idiopathic PAH from those with heritable PAH due to BMPR2
           mutations

        -  Discriminate patients with chronic thromboembolic pulmonary hypertension (CTEPH) from
           healthy controls, and patients with idiopathic and/or heritable PAH.

        -  Detect development of PAH in BMPR2 mutation carriers

        -  Determine whether the olfactory signature can stratify subgroups of patients by
           correlating the olfactory signature to different biological and clinical parameters
           (hemodynamic measurements, NYHA class, duration of treatment, 6-minute walk distance,
           response to nitric oxide, BNP levels).
    

Intervention name(s): Exhaled Breath Olfactory Signature (Artificial Nose)
Intervention type(s): Device
Allocation: Non-Randomized
Intervention model: Parallel Assignment
Masking: None (Open Label)
Primary purpose: Diagnostic
Keywords: pulmonary hypertension; early detection