Variants of immune-regulating human leukocyte antigen (HLA) genes were associated with the risk of systemic scleroderma, subtypes of the condition, and the presence of self-reactive antibodies, a large-scale genetic analysis showed. These findings underscored the genetic contribution to the disease and support future investigations into immunological susceptibility and external…
Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.
The immunosuppressant everolimus, carried aboard droplets of fat (liposomes) to lung cells may ease scarring and inflammation linked to systemic scleroderma (SSc), a study with aged mice found. The findings provide “preclinical evidence of everolimus as an efficient drug to reduce lung fibrosis [scarring] and inflammation,” its researchers wrote.
Blocking the activity of calpain proteins reduced scarring in the skin and inflammation in the lungs in a mouse model of scleroderma, a new study shows, suggesting these proteins may be therapeutic targets for this disease. The study, “Myeloid cell-specific deletion of Capns1 prevents macrophage polarization…
The immunosuppressant rituximab may help stabilize lung function in people with systemic sclerosis-related interstitial lung disease (SSc-ILD), a study suggests. The study,“Rituximab treatment for systemic sclerosis associated interstitial lung disease – A case series of 13 patients,” was published in the Internal Medicine Journal. Rituximab, a medication that…
Daily oral treatment with zibotentan, a blocker of the endothelin protein receptor, was found safe, and possibly may be able to improve kidney function in scleroderma patients with kidney disease, a Phase 2 trial shows. The study, “Zibotentan in systemic sclerosis-associated chronic kidney disease: a phase II randomised…
Fewer than one in five scleroderma patients seek help from mental health services, an international study found. The patients most often turned to general practitioners as their providers of mental health care, followed by psychologists and psychiatrists. The study, “Mental health care use and associated factors in systemic…
Watermelon stomach, a condition in which the stomach lining bleeds, is an early and relatively common manifestation of systemic sclerosis (SSc) — especially among patients with diffuse disease — that is associated with worse quality of life, a study in Australia shows. Officially gastric antral vascular ectasia (GAVE), the…
The U.S. Food and Drug Administration (FDA) has cleared Thermo Fisher Scientific to market its blood tests for diagnosing scleroderma and systemic lupus erythematosus (SLE), two autoimmune diseases. “Autoimmune diseases can be a challenge to diagnose. Reliable and accurate laboratory tests that provide clinical clarity are essential…
The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…
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