The Worst Rare Skin Disease Someone Never Heard Of. Remedor gives hope for patients with epidermolysis bullosa.
Debilitating Rare Skin Condition
Number of RDEB Patients in Europe
Number of RDEB Patients in USA
Average Costs of Chronic Wound Treatment per Patient
Approved Pharmaceutical Products
Type of Dressings Currently Used in the Clinic
Recessive Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa encompasses a group of currently incurable inherited rare skin diseases which are characterized by defective epithelial cell adhesion and manifests as skin and mucous membrane fragility and trauma-induced blistering. Individuals with the recessive form of dystrophic epidermolysis bullosa (RDEB) carry mutations in the COL7A1 gene which encodes the alpha chain of type-VII collagen (CVII), whose function is to maintain epidermal-dermal cohesion. RDEB patients often develop skin wounds at sites exposed to minimal mechanical stress because their skin is fragile and the wound healing process in RDEB patients is protracted due to a CVII deficiency in the skin. This protracted healing leads to chronic skin ulcers which frequently become infected and are accompanied by fibrosis and scarring. RDEB patients have a reduced life expectancy due to infection, organ failure, or development of cutaneous squamous cell carcinomas in the second or third decade of their life. In severe cases, the manifestations of RDEB include syndactyly, mitten deformities, limb ankylosis, and mucosal blistering which can lead to esophageal strictures. RDEB patients suffer from unbearable pain, malnutrition, and commonly have chronic anemia which is treated by erythropoietin. The current treatments for the skin ulcers of RDEB patients are limited to palliative skin care, daily wound maintenance, protective bandaging, pain and itch management, and treatment of secondary complications.
It is estimated that one in every 17,000 live births are affected by epidermolysis bullosa and approximately 30,000 individuals are affected in USA and twice of this number in Europe. The estimated prevalence of RDEB in the USA is 11 cases per 1 million inhabitants and the estimated incidence is 19 per 1 million live births. In contrast, the estimated prevalence of RDEB in Romania is 5 cases per 1 million inhabitants and the estimated incidence is 25 per 1 million live births. RDEB is characterized by painful blisters and chronic ulcers on skin and mucous membranes which are often debilitating, disfiguring, and usually fatal. The frequent cycles of painful blistering and protracted wound healing lead to persistent skin ulcers which frequently become infected. Over time, these ulcers become chronic ulcers which are accompanied by fibrosis and scarring. The skin wounds and their care not only affect an RDEB patient’s quality of life, but also have substantial economic consequences. The estimated daily cost of wound care for neonatal and pediatric RDEB patients ranges from US$10.43 (neonate) to US$668.23 (10-year-old child). Data from the UK suggest that the annual dressing costs for an adult RDEB patient may exceed US$500,000, and the annual cost of paying a carers to change the dressing may exceed US$50,000. Despite the devastating effect of RDEB blisters and chronic wounds and the massive costs they incur on the health care system, there is still no pharmaceutical products that accelerate the healing of their wounds safely and cost-effectively. Currently, there are no approved pharmaceuticals which hasten the healing of a RDEB wounds. Therefore, the insufficiency for a therapy which can accelerate a RDEB chronic wound healing with minimal scarring and reduce wound treatment costs is an unmet medical need.
Remedor's hydrogel technology is a novel treatment which can be incorporated into existing RDEB wound management practices thereby reducing hospital visits of the patients and treatment costs. Our results from preclinical studies have shown that our topical hydrogel technology could significantly increase CVII synthesis in skin fibroblasts. We have shown that our topical hydrogel-based therapy repairs the wound healing process in RDEB animal model with minimal scarring by restoring CVII levels and suppressing the inflammatory response in the wounded skin.