News

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…

A device designed to continuously record heart rhythm showed that asymptomatic patients with scleroderma have significant arrhythmia, according to a pilot study. Findings also suggested that arrhythmia — irregular heart rhythm — is associated with fibrosis, or scarring, and the levels of cardiovascular biomarkers. The study, “…

Inhibiting the protein PU.1 has potential as a therapy to treat multiple fibrotic diseases, including systemic sclerosis, a new study contends. The study reporting that finding, “PU.1 controls fibroblast polarization and tissue fibrosis,” was published recently in the journal Nature. The PU.1 transcription factor is a central…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…