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…
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,…
Patients with scleroderma have poor core stability, as measured by trunk muscle strength and endurance, affecting both their physical capacity and daily performance, a Turkish study found. Previous studies largely neglect trunk muscles in scleroderma patients, focusing instead on upper and…
Common barriers to physical activity in people with scleroderma range from fatigue and poor hand dexterity to symptoms like gastrointestinal discomfort and stiff joints, a large and international patient survey reports. Adjustments made to promote activity, like controlled and slow-movement exercises, regular stretching, and protective and warm clothing, however, were…
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…
Galapagos NV and Gilead Sciences are discontinuing all clinical trials with the investigational medication ziritaxestat. This includes the long-term extension of the Phase 2a NOVESA trial in scleroderma, as well as the Phase 3 ISABELA program in idiopathic pulmonary fibrosis (IPF). The decision is 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…
Autoantibodies against proteins of the telomeres — the protective caps of chromosomes and a marker of lifespan — were found in scleroderma patients with lung disease and shorter telomeres, a new study reveals. The findings suggest these autoantibodies could serve as a novel biomarker for scleroderma with lung disease.
In a study of the entire working population of Denmark, exposure to respirable crystalline silica — common in jobs in the construction industry — was linked to an increased risk of developing autoimmune rheumatic disorders, including scleroderma and rheumatoid arthritis. The dose-dependent nature of the association,…
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…
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