News

The U.S. Food and Drug Administration (FDA) has cleared Tenax Therapeutics to begin clinical testing of its new oral formulation of imatinib in people with pulmonary arterial hypertension (PAH). The company is planning to conduct a small pharmacological study this year — and then launch a Phase 3…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

Infusion with Ferinject (ferric carboxymaltose) safely treated people with pulmonary arterial hypertension (PAH) and iron deficiency, easing disease symptoms, improving exercise capacity, and lowering their number of hospital visits over a period of 18 months, a long-term study reported. Ferinject, as this treatment for iron deficiency anemia is known…

Targeting a protein called p110a, a part of the PI3K family of enzymes, may be useful for preventing or even reversing pulmonary hypertension, research done in cells and rodent models showed. “Targeted inhibition of [p110a] offers a disease-modifying treatment approach, which is readily accessible by small molecule inhibitors and…

A lab version of an investigational treatment for bone disorders and pulmonary arterial hypertension (PAH), KER-012 prevented bone loss in a PAH rat model, its developer, Keros Therapeutics, reported. Separate preclinical data in a PAH rat model, presented by the company earlier this year, also demonstrated that KER-012 worked to…

Seven long noncoding RNA molecules were found to be associated with the development of pulmonary hypertension (PH) in an early study in rats, scientists reported. The researchers noted that some of these RNAs are known to regulate immune and inflammatory response pathways, which may participate in PH. “Our study…

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

Blocking the activity of a small RNA molecule called microRNA-30a eased alterations in heart structure and blood vessel architecture in mouse models of pulmonary arterial hypertension (PAH), a new study reports. Results also showed that this molecule is present at abnormally high levels in PAH patients, supporting its potential…

Using a healthcare cost model, researchers in the Netherlands found that an early diagnosis of chronic thromboembolic pulmonary hypertension (CTEPH) leads to substantial life expectancy and quality of life benefits at an “acceptable” price. Although greater healthcare costs were associated with an earlier diagnosis — primarily due to the…

Many people with chronic thromboembolic pulmonary hypertension or CTEPH have a particular anatomical variation called May-Thurner anatomy, which may increase the risk of developing this rare disease type, according to researchers. A new study found this anomaly is very common in individuals with CTEPH, with nearly 30% of patients…

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…