Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa

This is a prospective, multicenter, multinational, longitudinal assessment of disease
severity in subjects with DEB. Subjects with either dominant or recessive DEB (dominant
dystrophic epidermolysis bullosa (DDEB) and recessive dystrophic epidermolysis bullosa
(RDEB), respectively) will be assessed four times over a one year period: upon enrollment,
and at 1 to 2 weeks and 6 and 12 months after enrollment. All subjects with either DDEB or
RDEB that meet the study entry criteria will be offered participation in the study, provided
they can be accommodated within the anticipated study timeline. In addition to their usual
clinic assessment, subjects will have a quantitative evaluation of skin involvement and will
be asked to fill out questionnaires that measure among other things disease severity, QOL,
pain, pruritus, and medical and family histories.

Eligibility Criteria

- Subjects of any age (newborns included) may participate

- Subjects over 18 years of age and parent(s)/legal guardian(s) of subjects <18 years
of age must provide written informed consent prior to participating in the study and
informed assent will be obtained from minors at least 7 years of age

- Subjects must have a documented diagnosis of DEB based on clinical presentation and
either skin biopsy results showing an absence or reduction in C7 or anchoring fibrils
or genetic analysis showing a mutation in collagen, type VII, alpha 1 (Col7A1);
alternatively, subjects must have a clinical diagnosis of DEB and a documented
diagnosis of DEB (as above) in a first degree relative

- No experimental systemic therapy for DEB including, but not limited to, bone marrow
transplantation, systemic immune suppression, or experimental therapies that involve
live cells which have the potential for systemic spread such as gene transfer, stem
cell infusions or other cell type injections