{"id":2544065,"date":"2023-05-31T19:05:29","date_gmt":"2023-05-31T23:05:29","guid":{"rendered":"https:\/\/platoai.gbaglobal.org\/platowire\/drugs-com-mednews-reports-nih-scientists-discover-treatment-for-rare-genetic-skin-disorder\/"},"modified":"2023-05-31T19:05:29","modified_gmt":"2023-05-31T23:05:29","slug":"drugs-com-mednews-reports-nih-scientists-discover-treatment-for-rare-genetic-skin-disorder","status":"publish","type":"platowire","link":"https:\/\/platoai.gbaglobal.org\/platowire\/drugs-com-mednews-reports-nih-scientists-discover-treatment-for-rare-genetic-skin-disorder\/","title":{"rendered":"Drugs.com MedNews Reports NIH Scientists Discover Treatment for Rare Genetic Skin Disorder"},"content":{"rendered":"

NIH Scientists Discover Treatment for Rare Genetic Skin Disorder<\/p>\n

The National Institutes of Health (NIH) has recently reported a breakthrough in the treatment of a rare genetic skin disorder called Netherton syndrome. The disorder affects approximately 1 in 200,000 people worldwide and is caused by a mutation in the SPINK5 gene, which leads to a deficiency in the protein LEKTI. This protein is essential for maintaining the skin’s barrier function, and its absence results in a range of symptoms, including severe itching, redness, scaling, and increased susceptibility to infections.<\/p>\n

Until now, there has been no effective treatment for Netherton syndrome, and patients have had to rely on symptomatic relief through topical steroids and antibiotics. However, NIH scientists have discovered a new approach that targets the underlying cause of the disorder. The treatment involves using a small molecule called Kallikrein 7 (KLK7) inhibitor, which blocks the activity of an enzyme that breaks down LEKTI.<\/p>\n

In a preclinical study, the researchers found that KLK7 inhibitor restored the skin barrier function in mice with Netherton syndrome-like symptoms. The treatment also reduced inflammation and improved the animals’ overall health. The scientists believe that this approach could be translated into a therapy for human patients with Netherton syndrome.<\/p>\n

The NIH team is now working on developing a topical formulation of KLK7 inhibitor that can be applied directly to the skin. They hope to conduct clinical trials in the near future to test the safety and efficacy of the treatment in humans.<\/p>\n

The discovery of a potential treatment for Netherton syndrome is significant not only for patients with this rare disorder but also for those with other skin conditions that involve a compromised skin barrier function. These include atopic dermatitis, psoriasis, and ichthyosis. The KLK7 inhibitor approach could offer a new avenue for treating these conditions by targeting the underlying molecular mechanisms.<\/p>\n

In conclusion, the NIH scientists’ discovery of a treatment for Netherton syndrome is a significant step forward in the field of dermatology. The KLK7 inhibitor approach offers hope for patients with this rare genetic disorder and potentially for those with other skin conditions. The development of a topical formulation of the treatment and clinical trials in humans will be crucial in determining its safety and efficacy. Nonetheless, this breakthrough is a promising development that could lead to improved quality of life for many people living with skin disorders.<\/p>\n