Active clinical trials for "Familial Primary Pulmonary Hypertension"

The investigators will investigate the interrelationship of macrophage migration inhibitory factor (MIF) and free T4 in patients with PAH.

In the present study, the investigators want to investigate the prevalence of BMPR-2 gene mutations in the Korean PAH patients (Step-I) and to test that the PAH patients treated with iloprost inhalation solution (Ventavis®) would show hemodynamic response, especially assessed by exercise echocardiography (Step-II).

The complex congenital cardiac malformations are a significant number of different diseases, each having specific natural histories. The interface with pulmonary arterial hypertension (HTAP) is high since the physiology of many of these disorders comprises alterations in pulmonary vasculature. This observatory is a cohort of 400 patients enrolled in 3 years, older than one month, having been informed and have agreed to participate in the study and with congenital heart disease other than patent foramen ovale as well as a diagnosis of pulmonary hypertension confirmed by cardiac catheterization. The main objectives of this report are to know Incidence of congenital heart disease in HTAP France. Describe the natural history of HTAP in a large population of patients Congenital heart disease in France The characteristics of HTAP congenital heart disease Having a cohort study

The investigators will evaluate ventricular reversed remodelling after double lung transplantation (LTX) in patients with pulmonary arterial hypertension (PAH), measured with cardiac magnetic resonance imaging (MRI). Reversed remodelling will be compared with control patients without PAH (e.g. Cystic Fibrosis) who will also undergo LTX.

The prevalence of PAH associated with congenital systemic-to-pulmonary shunts in Western countries has been estimated to range between 1.6 and 12.5 cases per million adults, with 25-50% of this population affected by Eisenmenger's syndrome. The rarity of this syndrome, combined with its complex pathophysiology, account for the insufficient understanding of the principles underlying its proper treatment.Recent decades have seen developments in pulmonary hypertension pathophysiology which have led to the introduction of new groups of drugs: prostacycline analogs (Epoprostenol, Treprostinil, Beraprost, Illoprost), phosphodiesterase inhibitors (Sildenafil, Tadalafil), endothelin receptor antagonists (Bosentan, Sitaxantan, Ambrisentan) and nitric oxide. These drugs should be administered to patients in III-IV NYHA class. Despite successful early results, the therapeutic effect on patients with Eisenmenger syndrome has not been conclusively established The treatment strategy for patients with PAH associated with congenital systemic-to-pulmonary shunts and, in particular, those with Eisenmenger's syndrome is based mainly on clinical experience rather than being evidence based. Although Eisenmenger's syndrome is uncurable disease, the survival rate is relatively higher than primary PAH, and the patients with Eisenmenger's syndrome are relatively younger group. So the improvement of exercise tolerance and quality of life is very important. Several randomized controlled trial reported favourable short- and long-term outcomes of treatment with the orally active dual endothelin receptor antagonist bosentan in patients with Eisenmenger's syndrome. However, there was scare data of outcomes of treatment with the inhaled iloprost in patients with Eisenmenger's syndrome. In Korea, most of patients with Eisenmenger's syndrome are treated with conservative therapy instead of administration of PAH-specific drug, because of lack of clinical experience. Moreover, oral agent such as bosentan, sidenafil is preferred than iloprost becase of more evidence and convenience. Our therapeutic efforts should be directed mainly towards preventing complications. As a rule, we should avoid agents with no established therapeutic efficacy and try to alleviate symptoms without any additional risk, so as not to disrupt the existing clinical balance. In this study, we investigate to know the clinical benefit of iloprost on patients with Eisenmenger's syndrome by the use of functional and hemodynamic parameters, which would add the evidence of PAH-specific agents on the Eisenmenger's syndrome

The current aims to combine analysis of different inflammatory biomarkers and BMPR2 mutations, which are currently analyzed in each patient diagnosed with idiopathic or familial PAH, to establish an earlier diagnosis and consequently better orientate the therapeutic strategy in PAH.

A total of 16 regional hospitals will be registering clinical data and biological specimens of idiopathic pulmonary arterial hypertension (IPAH)/heritable pulmonary arterial hypertension (HPAH) patients across Korea. The diagnosis of pulmonary arterial hypertension(PAH) will be based on right heart catheterization, where PAH caused by etiology other than HPAH or IPAH will be excluded. All clinical data will be stored to a government-based online database. Each participating hospitals will be collecting whole blood from each patient, through which DNA, RNA, serum, plasma, and peripheral blood mononuclear cells will be extracted from the buffy coat layer for further multi-omics analysis.

To characterize the demographics and clinical course of the patient population diagnosed as having WHO group I pulmonary arterial hypertension and WHO group IV pulmonary hypertension due to chronic thromboembolic pulmonary hypertension To describe real-world outcome of Chinese patients with WHO group I pulmonary arterial hypertension and WHO group IV pulmonary hypertension due to chronic thromboembolic pulmonary hypertension To evaluate differences in patient outcomes according to classification subgroup To identify clinical predictors of long-term survival To assess the relationship between targeted therapies for pulmonary arterial hypertension and patient outcomes

Develop a brief, new, patient reported outcome instrument that is valid for use in clinical practice and clinical trials.

In an earlier study, sildenafil citrate administered to patients of PAH led to improvement in pulmonary arterial pressure, cardiac output, quality of life, and other parameters as compared to placebo. This protocol provides mechanism for patients who have clinical deterioration on other PAH approved therapies to have access to sildenafil prior to marketing authorization in India.