A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
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Long-term use of Orenitram led to moderate but durable, and dose dependent, improvements in exercise capacity in pulmonary arterial hypertension (PAH) patients, results from an open-label extension trial show. These findings were reported in the study “Long term study of oral treprostinil to treat pulmonary arterial hypertension:…
Increasing levels of the receptor Nur77 in cells lining the blood vessels of patients with pulmonary hypertension (PH) may help halt progression of the disease by enhancing the signaling of the BMPR2 gene, often mutated in PH, a study suggests. The study, “6-mercaptopurine, an agonist of Nur77, reduces…
Left heart dysfunction may play an important role in severe pulmonary arterial hypertension (PAH), and should be monitored to optimize treatment, according to new research. The study, “Impact of Severe Pulmonary Arterial Hypertension on the Left Heart and Prognostic Implications,” was published in the Journal…
Extracorporeal life support improves the lung performance of people with idiopathic pulmonary arterial hypertension (iPAH) who need a lung transplant. But patients usually enter the transplant list at advanced stages of the disease, which leads to poor post-transplant outcomes. A study with that finding, “The role of…
Abbott’s CardioMEMS HF system — a wireless heart failure monitor — can be safely used to monitor blood flow (hemodynamics) changes and help predict the risk of heart failure in people with pulmonary arterial hypertension (PAH), results from a pilot trial show. Additional studies in larger…
In patients with pulmonary hypertension (PH) with aortic stenosis — when the heart’s aortic valve fails to properly close/open — undergoing a transcatheter aortic valve implantation (TAVI) surgical procedure resulted in fewer cardiac, respiratory and bleeding complications, according to a new study. The study “The Outcomes…
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…
An estimated right ventricular systolic pressure (eRVSP) — a measure of the pressure inside the artery that supplies blood to the lungs (pulmonary artery) — greater than 30.0 mmHg is related to an increased risk of mortality in patients with pulmonary hypertension (PH), according to a new Australian study. The…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
Into the vein (intravenous) injections of Revatio (sildenafil) have no added benefit over inhaled nitric oxide (iNO) used alone in treating newborns with persistent pulmonary hypertension (PPHN), a Phase 3 trial sponsored by Pfizer shows. Revatio, marketed by Pfizer, was ineffective as an intravenous formulation combined…
Use of sequential combination therapy focused on changes in exercise capacity improves health-related quality of life (HRQoL) in patients with newly diagnosed pulmonary arterial hypertension (PAH), according to a new study. The research, “Medium-term health-related quality of life in patients with pulmonary arterial hypertension treated with…
