Clinical characteristics of recessive dystrophic epidermolysis bullosa patients with collagen VII antibodies

Summary: Abstract Body: Patients with recessive dystrophic epidermolysis bullosa (RDEB) have been reported to have collagen VII (C7) antibodies at baseline and after treatments with C7-based therapies. Certain therapies may induce host production of C7 such as gentamicin, exon skipping, and beremagene geperpavec, or patients may be exposed to exogenous C7 such as gene-corrected grafting, intravenous recombinant C7, and bone marrow transplantation. We performed a qualitative study using data from the Epidermolysis Bullosa Clinical Characterization and Outcomes Database (EBCCOD), a North American EB registry, to evaluate clinical characteristics and assess potential predictors of C7 antibodies in RDEB patients. A total of 67 patients were identified in the registry who had C7 titers checked of which 30 patients had elevated C7 titers. Age and sex were not associated with elevated C7 antibody titers compared to RDEB patients with normal titers (p=0.08 and p=0.47, respectively). Patients who were exposed to gene therapies were not more likely to have elevated C7 antibody titers (p=0.15) in this data set. This study includes the largest sample size of RDEB patients that have had C7 antibodies evaluated to date. The pathogenicity of these antibodies and their impact on therapy response in RDEB patients remains unclear and warrants further evaluation. Importantly, understanding C7 antibodies may assist future therapeutic research in RDEB patients. Andrew Truong^{1, 2}, Katharina Horn¹, Laura Levin^{1, 2}, Emily Gorell³, Anne W. Lucky⁴, Bret Augsburger⁴, Moise Levy⁵, Marissa Perman⁶, Jean Y. Tang⁷, MP Marinkovich⁷, Kimberly Morel^{1, 2, 8} 1. Columbia University Vagelos College of Physicians and Surgeons, New York, NY, United States. 2. Dermatology, New York-Presbyterian/Columbia University Irving Medical Center, New York, NY, United States. 3. Dermatology, University of Colorado Anschutz Medical Campus, Aurora, CO, United States. 4. Dermatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. 5. Dermatology, Dell Children's Medical Center of Central Texas, Austin, TX, United States. 6. Dermatology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States. 7. Dermatology, Stanford University School of Medicine, Stanford, CA, United States. 8. Pediatrics, New York-Presbyterian/Columbia University Irving Medical Center, New York, NY, United States. Genetic Disease, Gene Regulation, Gene Therapy & Epigenetics