News

Rare mutations in the ATP13A3 gene caused a severe inherited form of childhood-onset pulmonary arterial hypertension (PAH), a case study of three families showed. These findings demonstrate the “growing importance” of genetic testing in patients with childhood-onset PAH, the scientists said, noting that the genetic basis of the disease…

Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…

COVID-19 tends not to cause serious disease or death in children with pulmonary hypertension (PH), but its long-term consequences remain unknown, according to a study done at a center in Texas. The study, “Outcomes of COVID-19 Infection in pediatric pulmonary hypertension: a single-center experience,” was published in the…

Health-related quality of life does not change substantially over time among people with pulmonary arterial hypertension (PAH) — though PAH patients who experience more substantial disease progression tend to report worse quality of life scores — a small study done at a hospital in France has found. These findings…

A joint effort between the startup Owkin and Actelion Pharmaceuticals, one of the Janssen companies, will seek to develop machine learning techniques that could improve how clinical trials are designed, and how the results are analyzed. While the two companies will work to create tools that can be applied…

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

Regularly consuming low-alcohol red wine reduced signs of pulmonary arterial hypertension (PAH) in a rat model of the disease, a study shows. “The results of this study suggest that chronic moderate consumption of RARW [reduced-alcohol red wine] or its components may represent a promising new protective strategy to limit…

As part of the company’s Pulmonary Hypertension Accelerated Bayer (PHAB) Awards, Bayer is giving a total of $1 million to seven research projects related to pulmonary hypertension. The awards are aimed at projects focused on pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH), which makes the…

Apabetalone (RVX-208), Resverlogix‘s experimental treatment for pulmonary arterial hypertension (PAH), was well-tolerated in a small clinical trial, the company announced. The trial met its primary goal of adding apabetalone to standard care to improve pulmonary vascular resistance (PVR), a measure that reflects the internal resistance to blood…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

Breathing oxygen-enriched air can significantly improve exercise performance in people with pulmonary hypertension (PH) linked to heart failure with preserved ejection fraction (HFpEF), including those who might not use supplemental oxygen, according to a small clinical study. Better blood-oxygen levels and more efficient breathing (exchange of carbon dioxide and…

For premature babies who are at high risk of pulmonary hypertension (PH) and other cardiovascular complications, consuming human breast milk in the first year of life is associated with better heart function, a new study found. “Preterm infants have abnormal heart function,” Afif EL-Khuffash, MD, the study’s lead author, said…