Science
Collagen is an essential component of human skin and connective tissues. More than two-dozen types of collagen exist in the body, each one playing its own distinct and important role. Collagen type VII functions as nature’s Velcro, forming anchoring fibrils that secure the skin’s protective outer layer, the epidermis, to the thick under-layer known as the dermis. Mutations in the gene that encodes collagen type VII can disrupt its ability to anchor the epidermis, resulting in a genetic disease called Dystrophic Epidermolysis Bullosa (DEB). DEB is characterized clinically by blister formation from mechanical trauma, frequently on the skin, but in severe forms, blisters can form throughout the body including in the mouth, on the external surface of the eye and on tissue lining the respiratory, gastrointestinal and genitourinary tracts. In some forms of the disease, disfiguring scars and disabling musculoskeletal deformities occur.
Two forms of the disease exist, based on how it is inherited. In the United States, the recessive form of DEB has a prevalence of between 3.5 and 20.4 affected patients per million people.
Recessive dystrophic epidermolysis bullosa or RDEB is a severe form of EB and, in addition to the blistering seen with other forms of the disease, manifests systemically with symptoms including malnutrition, anemia, esophageal strictures, growth retardation, corneal abrasions and fusion of the fingers and toes.
There is no cure for RDEB, and management of the disorder is complex, with treatment goals focused on managing blisters, controlling infection and the prevention of complications.
Patients
In patients with recessive dystrophic epidermolysis bullosa (RDEB), the epidermis can separate from the dermis. Even minor friction or trauma can cause debilitating blistering, tearing and scarring of the skin, along with severe pain and itching. The internal skin lining the mouth and throat are affected, disrupting patients’ ability to eat. Many die prematurely from aggressive squamous cell carcinoma, a common complication of DEB. These patients have no treatment options beyond daily wound care, pain management and protective bandaging. The epidermolysis bullosa patient community has done extraordinary work to spread awareness of the unmet medical need that patients face.
Phoenix Tissue Repair is working to create a first-ever systemic treatment for RDEB by replacing the collagen proteins (C7) at the root of the disease. In the first quarter of 2022, we completed a Phase 2 clinical trial of PTR-01, a recombinant version of the human protein collagen type VII (rC7) in adult patients with recessive dystrophic epidermolysis bullosa (RDEB). In this trial, we are evaluating safety and tolerability of PTR-01, as well as clinical proof of concept in RDEB including on wound healing and other efficacy endpoints. For more information about this trial, visit the posting on ClinicalTrials.gov, or contact us at info@phoenixtissuerepair.com.
News
Press Releases
Publications, Presentations and Posters
Society of Pediatric Dermatology
July 10-12, 2020
Virtual meeting