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The investigational oral therapy APT-101 was well tolerated and reduced fibrosis, or scarring, in a mouse model of systemic sclerosis (SSc), according to a recent presentation from the therapy’s developer, Apie Therapeutics. Apie is developing APT-101 to treat interstitial lung disease (ILD), a term that encompasses a group…

An independent committee of experts recommended accelerating a Phase 2 clinical trial of Aisa Pharma‘s experimental oral therapy Profervia in scleroderma patients who have Raynaud’s phenomenon, a common disease where the fingers and toes become numb or tingly in response to cold or stress. “We believe Profervia…

Note: This story was updated June 14, 2023, to correct that patients receiving Ofev in the SENSCIS trial experienced a fourfold decline in lung function compared with a hypothetical group of matched healthy references, while those given Ofev declined by twofold.  People treated with Ofev (nintedanib) for interstitial lung…

A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…

About 2% of people with scleroderma are positive for more than one disease-associated antibody that targets tissues, causing damaging inflammation, according to a new study. Results suggest that certain antibody combinations may be associated with distinct clinical features. The study, “Combinations of scleroderma hallmark autoantibodies associate…

An altered balance of immune B-cell subtypes was linked to skin and lung involvement in people with more severe systemic scleroderma, a study suggested. The results indicate that restoring that balance may be a novel therapeutic target in people with severe forms of the condition, the scientists noted. The…

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…