News

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

Edsivo (celiprolol) has been granted a breakthrough therapy designation for COL3A1-positive vascular Ehlers-Danlos syndrome (vEDS) by the U.S. Food and Drug Administration (FDA). The designation is meant to expedite the development and review of medicines that are intended to treat a serious condition, and for which early clinical…

Diagnosing and treating a very rare type of Ehlers-Danlos syndrome (EDS) early would help prevent further complications and potentially improve quality of life for patients with the condition, called arthrochalasia EDS (aEDS), a review study reports. However, the similarities between aEDS and other health conditions make it…

A first case of vascular Ehlers Danlos syndrome (vEDS) occurring with Takayasu arteritis (TAK) — a rare inflammatory condition in blood vessels — was successfully treated with anti-inflammatory therapy, according to a case report. “To the best of our knowledge, this is the first case…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

Orthostatic intolerance — a condition characterized by symptoms like dizziness, elevated heart rate, or blurred vision upon moving to an upright position — was common, and had a significant impact, among young women and adolescent girls with hypermobile Ehlers-Danlos syndrome (hEDS) and generalized hypermobility spectrum disorder (G-HSD), according…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

The European Commission has granted an orphan drug designation to Aytu BioPharma’s AR101 (enzastaurin), an oral therapy candidate for Ehlers-Danlos syndrome (EDS), including the severe subtype vascular EDS (vEDS). The commission’s decision follows a positive recommendation by the Committee for Orphan Medicinal Products, an arm of the European…