Researchers have identified a new mutation in the FLNA gene that was linked with pulmonary arterial hypertension (PAH) and congenital heart defects in a two-year-old girl. This case, along with more than a dozen others, highlights the association between FLNA mutations and early onset PAH. Together, they support genetic testing…
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Long-term treatment with Bayer’s Adempas (riociguat) was safe and well-tolerated in people with pulmonary arterial hypertension (PAH), according to data from the real-world EXPERT study. These findings from clinical practice were consistent with those reported in previous clinical trials, supporting the therapy’s favorable safety profile. Data from EXPERT…
The first patient has enrolled in REBUILD, a Phase 3 clinical trial that will assess the safety and efficacy of Bellerophon Therapeutics’ INOpulse, an experimental treatment for patients with pulmonary fibrosis (PF) who are at risk of developing pulmonary hypertension…
To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
The Pulmonary Hypertension Association U.K. (PHA UK), a charity organization dedicated to supporting those with pulmonary hypertension (PH), is urging adults with PH to participate in a research study assessing the usefulness of a self-help program to manage anxiety. By participating in the study patients will have…
The U.S. Food and Drug Administration (FDA) determined that additional data is required to support the potential approval of LIQ861, Liquidia Technologies’ investigational inhaled formulation of treprostinil, for the treatment of pulmonary arterial hypertension (PAH). The U.S. agency issued a complete response…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Liquidia Technologies, the developer of an inhaled formulation of treprostinil (LIQ861) for the treatment of pulmonary arterial hypertension (PAH), has completed its acquisition of RareGen, the marketer of generic treprostinil injections. The…
Treatment with Acceleron Pharma’s sotatercept leads to substantial improvements in cardiac parameters, as well as exercise tolerance and capacity, in people with pulmonary arterial hypertension (PAH) on standard therapies, early data from the SPECTRA Phase 2 trial show. The findings, “SPECTRA and Beyond: Signs of Disease Modification?…
Dialing up the activity of a gene called IRF7 may reduce pulmonary artery thickening, lower blood pressure, and ease inflammation in people with pulmonary hypertension (PH), a study using a rat model of the disease suggests. The study, “Downregulation of Interferon regulatory factor 7 is link…
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
Enrollment is resuming for the VIP clinical trial, which is evaluating PhaseBio Pharmaceuticals‘ investigational therapy pemziviptadil (PB1046) in people with pulmonary arterial hypertension (PAH). The trial, which is recruiting adult patients at sites across the U.S., underwent a brief pause in enrollment owing to effects of the…
