Hyperkeratosis, Epidermolytic

Researchers have successfully treated the skin diseases epidermolytic ichthyosis and ichthyosis with confetti by transplanting genetically healthy skin to inflamed areas. Their work could pave the way for a new and effective treatment strategy for these skin disorders. Researchers from Nagoya University Graduate School of Medicine in Japan have successfully treated the skin diseases epidermolytic ichthyosis (EI) and ichthyosis with confetti (IWC) by transplanting genetically healthy skin to inflamed areas. Transplanting healthy skin to inflamed areas has been used as a treatment option for severe burn injuries. They applied this technique from a common disease to rare diseases. Their research could pave the way for a new and effective treatment strategy for these challenging skin disorders. The study was published in the British Journal of Dermatology. EI and IWC are rare genetic skin disorders caused by mutations in one of the two genes that make keratin in the skin, KRT1 or KRT10. As keratin is important for maintaining skin integrity, these mutations lead to fragile skin that blisters and forms thick, scaly patches. Some patients suffering from these diseases exhibit large patches of healthy skin in the affected areas. These spots result from revertant somatic recombination, a process where spontaneous genetic changes correct the mutations by altering the genes that cause the skin condition. This causes the affected areas to return to a healthy state. The group led by Lecturer Kana Tanahashi, Prof. Masashi Akiyama, and Associate Prof. Takuya Takeichi realized that revertant somatic recombination could be used for a pioneering therapy. By making grafts called cultured epidermal autografts (CEAs), which contain genetic mutation corrections that give healthy skin, and grafting these naturally corrected skin cells to affected areas, outbreaks of the disease could be controlled. They evaluated the feasibility of transplanting CEAs derived using revertant epidermal keratinocytes -- those that lack the keratin mutation -- back onto patients. CEAs were transplanted to peeling lesions of the patients. Four weeks after transplantation, two of the patients had no ichthyosis recurrence in the entire treated area, while the third did not show recurrence in more than a third (39.52%) of the affected area. Although it was initially successful, 24 weeks after transplantation, all three patients experienced some recurrence of ichthyosis at the transplant sites. The researchers concluded that the best use of the technique is to alleviate symptoms when the disease is severe and to treat local EI symptoms in specific regions that affect quality of life. The research marks a significant step forward in the quest to find effective treatments for EI and IWC. By utilizing the natural genetic correction mechanisms of the body, researchers have demonstrated a novel and promising treatment. Their study opens the door to further studies and clinical trials to refine the approach and extend its benefits to more patients, offering hope for those affected by these intractable skin disorders.

ROOTSTOWN, Ohio, Oct. 30, 2023 /PRNewswire/ -- BioMendics LLC, a pharmaceutical company developing new medicines to improve the lives of patients living with rare skin diseases, today announced its participation in the 7th Annual Dermatology Drug Development Summit for Inflammatory Skin Diseases, taking place from October 31 - November 2 in Boston, Massachusetts. Dr. Karen McGuire, CEO and Founder of BioMendics, will provide an update on the company's primary clinical program in epidermolysis bullosa simplex (EBS). Her presentation will also detail preclinical data that contributed to the development of BioMendics' clinical program, highlighting the mechanistic role of BM-3103 and other mammalian target of rapamycin (mTOR) inhibitors in autophagy, a natural process that acts like a cellular cleaning mechanism, removing damaged or harmful components within cells. BioMendics completed their TAMES Phase I/IIa study with Stanford Medicine, Dermatology this summer in patients with severe EBS, and is planning on a Phase II study in 2024. The completion of the Phase I/IIa study came on the heels of BioMendics receiving Orphan Drug Designation on May 1, 2023, for their proprietary molecule, BM-3103. BioMendics also has Rare Pediatric Disease designation for BM-3103 from February 2021. "I'm excited to be presenting on our MTORX technology of new mTOR inhibitors and their potential impact on EBS treatment," said Karen McGuire, PhD, CEO and Founder of BioMendics. "EBS patients suffer from severe blistering, recurrent wounds, chronic pain and itch and blistering on the soles of their feet, which creates mobility issues in adults and developmental delays in children. Our unwavering commitment is to develop a safe and effective therapy that will improve the lives of EBS patients and their families." Seminar details are as follows: Title: Utilizing mTOR Inhibitors to Stabilize Intermediate Filaments in Epidermolysis Bullosa Presenter: Dr. Karen McGuire, CEO and Founder of BioMendics Date and Time: November 2, 2023, at 12:00 pm ET For more information, visit the Dermatology Drug Development Summit for Inflammatory Skin Diseases website here. About BioMendics LLC BioMendics LLC is a pharmaceutical company solely focused on developing life-enhancing medicines for adults and children living with rare dermatologic diseases. BioMendics' proprietary small molecule liquid crystal MTORX™ Technology has potential applications in rare skin diseases that affect keratins, such as epidermolysis bullosa simplex (EBS), epidermolytic ichthyosis (EI), pachyonychia congenita (PC), and other palmoplantar keratodermas. The company's lead product in development, BM-3103, is a patented topical gel currently being studied in a clinical program (NCT05062070) for epidermolysis bullosa simplex, with additional indications in the pipeline. For more information, visit . About The Dermatology Drug Development Summit The Dermatology Drug Development Summit stands as a vital annual congregation of professionals and experts from the dermatology and pharmaceutical sectors. Its mission is to offer a platform for the exchange of knowledge and exploration of innovative treatments and strategies designed to address dermatological conditions. The summit serves to advance drug development within the dermatology domain, fostering the sharing of best practices and novel approaches to skin disorder treatments. SOURCE BioMendics