Study of Characteristics in Patients Aged 7 and Older With Recessive Dystrophic Epidermolysis Bullosa

What this Trial Is About

This research aims to better understand recessive dystrophic epidermolysis bullosa RDEB, a genetic skin condition causing painful blisters and wounds from minor skin injuries. Researchers are screening patients with RDEB to study their symptoms and cell characteristics to help develop new therapy approaches and identify candidates for future treatment trials. Participants will undergo detailed medical history review, skin and physical examinations, and photographs of wounds. Blood tests will check overall health including Hepatitis B, Hepatitis C, and HIV, with possible genetic testing. Skin biopsies may be taken to assess Collagen 7 and related antibodies. Throughout the study, researchers will collect information to identify suitable patients for ongoing or future clinical trials. The main outcome is identifying RDEB subjects over a period of 10 years. Participant involvement includes medical assessments, laboratory tests, and biopsies as needed, with no treatment provided during this observational study.

Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa