2023-06-09 02:15:27
[바이오 키워드] bullous epidermolysis
Dystrophic epidermolysis bullosa (DEB) is known as a severe incurable genetic skin disease. It is caused by a genetic defect in ‘type 7 collagen (COL7A1)’, which is the main component of anchorage fibers that connect the epidermis and dermis in the skin.
From the time of birth, patients repeatedly develop blisters and wounds on the skin and mucous membranes, and suffer from extreme pain and itching. Symptoms such as secondary infection of the wound and dysphagia due to esophageal stricture, chronic anemia, and internal organ failure are common. In addition, squamous cell carcinoma of the skin, joint contracture, and toe jointing (syndactyly) that occur chronically at the wound site have also been reported.
Until now, treatment has relied only on symptomatic therapy to alleviate symptoms because there is no suitable treatment. However, recently, research on new therapies such as recombinant type 7 collagen injection treatment, drug treatment, cell therapy, and gene therapy is being actively conducted. Here, gene therapy is evaluated as a fundamental treatment.
In fact, in May of this year, a gel-type gene therapy applied to the skin once a week was recognized for its efficacy as a result of clinical trials and obtained global approval. Topical gene therapy drug ‘Vyjuvek (product name: beremagene geperpavec, B-VEC)’ developed by Nasdaq-listed Krystal Biotech is being discussed as a fundamental treatment option.
Baijuvek transfers the corresponding COL7A1 gene, which is considered the main cause of the disease, into a herpes simplex virus type 1 (HSV-1) vector directly into skin cells, and has a mechanism of action that restores the COL7 protein fibrils that stabilize the skin structure. had
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#Appearance #gene #therapy #intractable #skin #disease