News

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

Protalix Biotherapeutics and SarcoMed USA have entered into an exclusive worldwide license agreement to advance PRX-110 (alidornase alfa) as a treatment of pulmonary sarcoidosis and other respiratory diseases. “Most patients with pulmonary sarcoidosis do not show symptoms and do not realize they have the disease until it has…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

The U.S. Food and Drug Administration (FDA) has accepted and granted priority review to an application for Esbriet (pirfenidone) as a treatment for unclassifiable interstitial lung disease (UILD). The supplemental new drug application was submitted by Genentech, Esbriet’s developer and a member of the Roche Group, based on…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Recovery for people with ocular sarcoidosis is more likely if anterior uveitis — inflammation in front of the eye — is evident at diagnosis and they are of Caucasian ethnicity, a long-term study in patients in Europe reports. But elevated intraocular pressure generally leads to poorer outcomes, its researchers wrote. They…

As part of a new agreement with AdVita Lifescience, Relief Therapeutics will acquire the intellectual rights for the specifications and potential applications of an inhaled formulation of RLF-100 (aviptadil). Relief has been collaborating with NeuroRx to advance the development of RLF-100 to treat patients with severe…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…