News

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

The first patient with diffuse cutaneous systemic sclerosis (SSc) has been given the investigational therapy AVID200 in an ongoing Phase 1b trial, announced the therapy’s developer Forbius. The open-label study (NCT03831438), which is currently recruiting participants, was designed to assess the safety and tolerability of AVID200, as well…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Patients with systemic sclerosis (SSc) have reduced health-related quality of life compared with other systemic rheumatoid diseases, a new study shows. A significant association between skin thickness scores and impaired quality of life also was reported in the study. The study “Health-related quality of life in systemic sclerosis…

There was no significant difference between placebo and lanifibranor, Inventiva Pharmaceuticals’ investigational treatment for systemic sclerosis, in alleviating skin fibrosis in a Phase 2b study, the company announced. Based on the results, Inventiva will no longer proceed with the clinical development of lanifibranor for scleroderma. It will…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

The enzyme EZH2 is present in higher-than-normal levels in fibroblasts and endothelial cells from scleroderma patients, a study shows, and suggests blocking or inhibiting EZH2 to prevent fibrosis and restore normal blood vessel formation. The study, “Inhibition of EZH2 prevents fibrosis and restores normal angiogenesis in scleroderma,” was published…

Deregulation of the microorganisms that naturally populate the skin is associated with increased inflammation and disease duration in patients with systemic sclerosis, a study shows. The study, “Microbiome dysbiosis is associated with disease duration and increased inflammatory gene expression in systemic…