The scientists found that the disorder has an overactive version of the STAT4 protein, which controls inflammation and wound healing and ruxolitinib can target an important feedback loop controlled by this protein to improve symptoms

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An aerial view of the Clinical Centre on NIH Campus. (Credit: National Institutes of Health/ Flickr)

A team of researchers at the National Institutes of Health (NIH) has discovered the genomic variants of a rare inflammatory skin disorder, disabling pansclerotic morphea, and ruxolitinib as its potential treatment.

The scientists found that the disabling pansclerotic morphea disorder has an overactive version of STAT4 protein, which controls inflammation and wound healing.

NIH’s research also identified that ruxolitinib can target an important feedback loop controlled by the STAT4 protein to improve the symptoms in the patients.

The researchers utilised genome sequencing to assess four disabling pansclerotic morphea patients. They found that all four have genomic variants in the STAT4 gene.

Additionally, the team discovered that the presence of STAT4 genomic variants results in an overactive STAT4 protein in these four patients. It thus generates a positive feedback loop of inflammation and impaired wound healing that deteriorates over time.

To stop this feedback loop, they targeted the Janus kinase (JAK) protein in the inflammatory pathway that interacts with the STAT4 molecule.

US-based NIH said that ruxolitinib, a JAK-inhibiting drug, improved the patients’ rashes and ulcers during their treatment.

NIH distinguished investigator Dan Kastner said: “The findings of this study open doors for JAK inhibitors to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it is scarring of the lungs, liver or bone marrow.”

“So far, there has not been a standard treatment for this disorder because it’s so rare and not well-understood. However, our study gives an important new treatment option for these patients.”

As per the results published in the New England Journal of Medicine, ruxolitinib can be an effective treatment for patients with this rare inflammatory skin disorder. Ruxolitinib is generally used to treat arthritis, eczema, ulcerative colitis and other chronic inflammatory diseases.

The study was led by researchers at the NIH’s National Human Genome Research Institute (NHGRI), in partnership with a team from the University of California, San Diego (UCSD) and the University of Pittsburgh.