Epidermolysis Bullosa Simplex

DENVER, Nov. 10, 2023 /PRNewswire/ -- debra of America, the leading patient advocacy organization dedicated to improving the quality of life for those living with Epidermolysis Bullosa (EB), raised $600,000 at its annual benefit on November 4, 2023, in Atlanta at the Georgia Aquarium. Funds raised help advance EB research initiatives and directly support families and individuals living with EB. "We are incredibly grateful to our donors and supporters who joined us on Saturday night to raise funds and greater awareness for EB," said Brett Kopelan, Executive Director of debra of America. "This disease is currently a lifelong sentence, and we truly believe we can move the needle to help more families and fund research that has the potential to improve quality of life and ultimately find a cure." At the benefit, debra honored several EB trailblazers for their research and therapeutic contributions as well as individuals living with the disease. Award recipients included: 1st Annual Jouni Uitto Impact Award: M. Peter Marinkovich, MD Spirit Award: Susan Craighead Spirit Award: Analise Cardullo Partners in Progress Award: BioMendics Partners in Progress Award: Eliksa Therapeutics Partners in Progress Award for First Approved Drug: Krystal Biotech Dr. Marinkovich's contributions have made an indelible mark on EB therapeutic development including his role as the primary investigator for Krystal Biotech's GEM-3 Trial for the recently U.S. FDA-approved VYJUVEK™ for Dystrophic Epidermolysis Bullosa. "Dr. Marinkovich is not only an exceptional clinician but also a pioneer in the field of gene therapy for treating EB at a molecular level. It is due to his groundbreaking work that we have seen the first FDA-approved treatment as well as other promising therapeutic approaches for this condition. Therefore, it is fitting that he receives the inaugural Jouni Uitto Impact Award," said Kopelan. The Spirit Award, given to Craighead and Cardullo, recognizes individuals living with EB in the United States who possess great courage and strength in spite of the challenges this disease engenders. Craighead, born in 1964 with DEB inversa, defied the odds during a time when survival for infants with EB was extremely rare. Her outstanding academic achievements, unwavering commitment to community advocacy and distinguished career as a King County Superior Court judge in Washington state are a testament to her resilience and dedication. Analise Cardullo, diagnosed with Junctional Non-Herlitz EB from birth, has also shown unwavering determination in her life. She actively participates in varsity swimming, choir and farm work, refusing to let her condition define or slow her down physically. Her spirit and diverse pursuits showcase her remarkable resilience and determination. Three Partners in Progress Awards were granted to BioMendics, Eliska Therapeutics and Krystal Biotech for their respective contributions to EB therapies and treatments. BioMendics is at the forefront of developing MTORX Technology, a topical gel tailored to target and eliminate mutated and damaged keratins in the skin of EB Simplex patients. Their upcoming TAMES Phase 2 clinical trial, slated to begin next spring, will encompass both children and adults with EBS. Eliska Therapeutics is currently pioneering the development of ELK-003, an innovative eye drop designed to address corneal abrasions in individuals with EB. ELK-003 holds the potential to revolutionize the treatment of ocular manifestations associated with EB. Eliska Therapeutics is determined in its commitment to advancing patient care and bringing this groundbreaking eye drop into clinical practice. Both of these companies have demonstrated an unwavering commitment to the community by actively engaging people living with EB to ensure their work will make a meaningful impact on their quality of life. Krystal Biotech was recognized for its work in developing VYJUVEK™ (beremagene geperpavec-svdt), the first FDA-approved treatment of Dystrophic Epidermolysis Bullosa (DEB). VYJUVEK is a topical gel that addresses the genetic cause of DEB by restoring functional copies of the COL7A1 gene to patients and is the only medicine available for patients in the U.S. Following on the success of their benefit, Brett Kopelan will be a featured panelist in the RAAP 2023 Fall Policy Conference on Capitol Hill alongside policymakers and other foundation leaders to address access issues for those living with rare diseases. As part of its government and advocacy work, debra is frequently active on Capitol Hill, advocating for specific important pieces of legislation and to foster stronger relationships with federal government officials and relevant agencies to further its mission and impact. Epidermolysis Bullosa is a rare genetic disorder characterized by fragile skin that easily blisters or forms painful sores from minor friction or trauma. It affects people equally across genders, ethnicities, races and all age groups and has significant physical, emotional and finanicial impacts on both patients and their families. For more information about debra, visit . About debra debra of America (debra) is a nonprofit organization dedicated to enhancing the lives of individuals and families impacted by Epidermolysis Bullosa (EB), a rare genetic disorder. The organization integrates direct services, advocacy, education and research to foster meaningful change for EB patients. Epidermolysis Bullosa is characterized by fragile skin prone to painful blisters from minor friction. debra provides vital resources, builds community and drives research to alleviate the challenges associated with EB, supporting patients and their loved ones. With a longstanding commitment to EB awareness and study, debra is a pillar of support. By uniting caregivers, advocates and supporters, the organization envisions a future where the burdens of EB are lifted, empowering those affected to lead lives of greater comfort. For more information about debra, visit . Media Contacts Kelly Potts / Ryan Mudgett for debra of America [email protected], (206) 343-1543 SOURCE debra of America

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

Company and Yale University Hospital seeking participants with GA for Phase 1 trials of medicine FDA-approved for other ailments NEW HAVEN, Conn., June 2, 2023 /PRNewswire/ -- TWi Biotechnology (TWiB), a clinical stage biopharmaceutical company specializing in development of repositioned drugs for unmet medical needs, is currently seeking participants for a Phase 1 clinical trial of a topical gel called tofacitinib for the treatment of granuloma annulare (GA). The TWiB team and collaborating physicians invite eligible individuals to participate in this groundbreaking study at Yale University Hospital. Individuals with GA or friends and family members can find study information at: . For further information, please contact: Nicole Olszewski Study Coordinator +1-203-785-5505 [email protected] GA is a rare skin condition affecting approximately 330,000 cases in the US, predominantly in women. It is characterized by raised bumps in a ring pattern, most commonly on the hands and feet, and while it is neither contagious nor causes pain, it can cause a high degree of self-consciousness. This can be particularly detrimental to patients with long-term cases or a highly visible rash, who can suffer from emotional distress. The disease is poorly understood and has no effective treatment, Dr. William Damsky, MD, PhD of Yale School of Medicine — the clinical trial's principal investigator — has already conducted a small-scale study showing that oral tofacitinib, a type of medicine called a JAK inhibitor, shows promise for GA — treatment with tofacitinib both improved skin disease and reduced circulating inflammatory biomarkers in all GA patients. The current trial, using a topical treatment already approved for oral use to treat other, more common ailments, represents a significant step towards addressing this unmet medical need. Repurposing an FDA-approved medicine The oral formulation of tofacitinib has already been FDA approved to treat such ailments as rheumatoid arthritis, psoriatic arthritis, ulcerative colitis, polyarticular course juvenile idiopathic arthritis, and ankylosing spondylitis. The topical gel formulation of tofacitinib (AC-1101), which is being tested in this clinical trial, is applied topically to the skin and tends to have lower systemic exposure compared to the oral route. Addressing gaps in treatment Channeling science and integrity to alleviate the suffering of patients, TWi Biotechnology specializes in rare diseases and dermatological diseases associated with inflammation or inflammatory conditions — typically helping patients that have been left behind by the larger pharmaceutical industry. TWi Biotechnology's specialty of developing drugs for unmet medical needs focuses on drug repositioning — repurposing already-approved treatments for a different ailment. In particular, the company has demonstrated leadership in developing treatments for rare skin diseases, including epidermolysis bullosa simplex and GA. About TWi Biotechnology TWi Biotechnology, Inc (TWi Biotechnology) is a clinical stage biopharmaceutical company based in Taipei, Taiwan specializing in the development of repositioned drugs for unmet medical needs, especially in rare diseases associated with inflammation or inflammatory conditions. Established in July 2010, TWi Biotechnology is expanding its product pipeline through in-licensing and internal research. TWi Biotechnology's product development pipeline includes two drug candidates for treating epidermolysis bullosa simplex and immunodermatology diseases. With its extensive experience in clinical, pre-clinical, animal pharmacology/toxicology studies, domestic and international regulatory standards, and deep knowledge in international patent protection and the specialty drug market in the US, TWi Biotechnology is in a leading position to develop new treatments in these therapeutic areas. For more information, please visit: . Media Contact: Michelle Chen, [email protected] SOURCE TWi Biotechnology,Inc