Should scientists have the right to edit the genes of future generations to eliminate hundreds, if not thousands, of potential rare diseases? Or should researchers restrict their use of genome editing to somatic cells, so that they don’t pass changes on to the next generation? What about stem-cell research, three-parent…
News
Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…
Direct oral anticoagulants — a type of blood thinner medication — are a safe and effective treatment for chronic thromboembolic pulmonary hypertension (CTEPH), according to a small study. The study, “Use of direct oral anticoagulants for chronic thromboembolic pulmonary hypertension,” was published in the journal Clinics.
Two years after approving it, the 28-member European Union will begin enforcing its General Data Protection Regulation (GDPR) — a tough new law that aims to protect the EU’s 512 million citizens, including rare disease patients, from having their medical records misused, sold, or subject to extortion by hackers, third…
Acceleron Pharma, a biopharmaceutical company focused on rare diseases, has announced the start of the PULSAR Phase 2 clinical trial assessing the safety and effectiveness of sotatercept (ACE-011) in adults with pulmonary arterial hypertension (PAH). Sotatercept works by trapping members of the transforming growth factor-beta (TGF-beta) family, particularly those directly…
Bellerophon‘s positive top-line results from its Phase 2 trial testing INOpulse as a potential therapy for pulmonary hypertension associated with chronic obstructive pulmonary disease (PH-COPD) will be presented at an upcoming conference, the company announced. Results of the trial, which were initially announced in September 2017,…
Horizon 2020, the European Union’s prestigious research and innovation program, recently awarded ATXA Therapeutics €2.5 million ($2.91 million) to support the development of ATXA’s lead therapy candidate NTP42 and help get it to market quicker as a treatment for pulmonary arterial hypertension (PAH). The ATXA research project was…
The non-profit Team PHenomenal Hope is helping Puerto Ricans with pulmonary hypertension (PH) during the ongoing power outage crisis by providing portable solar panels and battery packs. The power outage was caused by Hurricane Maria, in September 2017, which inflicted significant damage to the island. Recovery wasn’t easy…
The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…
The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…
Clinical features of sarcoidosis-associated pulmonary hypertension are similar across patients in the U.S., Europe and Middle East, but treatment is more likely to be given to patients outside the United States, a study reports. These findings were drawn from data on 176 sarcoidosis-associated pulmonary hypertension (SAPH) patients enrolled in a…
Scottish patients with pulmonary arterial hypertension (PAH) can now be treated with Actelion‘s Uptravi (selexipag) through the country’s National Health System (NHS) after a positive recommendation from the Scottish Medicines Consortium (SMC). However, the use of this therapy will be restricted to adult patients in WHO functional…
