News

A tiny RNA molecule called microRNA-320a is associated with regulating collagen levels and fibrosis, or scarring, in systemic sclerosis (SSc) complicated by interstitial lung disease (ILD), a study reports.  According to investigators, this is the “first…

Small genetic variations that alter gene activity could play a role in the development of scleroderma and open new avenues for treating the disorder, a study indicates. Many of the genes identified through this work also show unusual levels of activity in tissues often affected in this disease. The study,…

Intensified B-cell depletion therapy (IBCDT) — administering immunosuppressants to lower the number of antibody-producing immune B-cells — may be a promising strategy to help people with scleroderma manage their condition, a study shows. IBCDT may be particularly helpful for those with extensive skin involvement and 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…

Three factors —  the presence of digital ulcers, Raynaud’s phenomenon, and gastrointestinal (GI) symptoms — appear to predict a worsening over time in life quality for people with systemic scleroderma (SSc), a study in nearly 500 patients shows. In addition, pulmonary arterial hypertension (PAH) was found to significantly contribute…

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…

Tests that measure finger sweating levels may be useful diagnostic tools to help physicians identify people with scleroderma, a pilot study has found. Future studies enrolling a larger number of patients are needed to confirm the utility of these tests, researchers said. The study, “Finger sweating…

U.K. Rare Diseases Framework, a government-led approach to raising national awareness of rare disorders, accelerating  diagnoses, and improving patient care and treatment, is now in practice. This  framework, signed by all four countries take make up the U.K. — England, Scotland, Wales and Northern Ireland — builds on the success…

Scleroderma treatment TMB-003, which aims to improve patients’ quality of life by reducing the scarring that characterizes the autoimmune disorder, has been granted orphan drug designation by the U.S. Food and Drug Administration (FDA). This designation is awarded to investigational therapies intended to improve treatment for rare diseases,…

A glycoprotein called Krebs von den Lungen‐6 (KL-6), known to indicate lung inflammation, shows promise as a biomarker of lung tissue damage and likely disease progression in people with scleroderma associated with interstitial lung disease (SSc-ILD), a study reports. The study, “Serum markers of pulmonary epithelial damage…