A Natural History Study of Corneal Abrasions in Patients With Dystrophic Epidermolysis Bullosa (DEB)

Krystal Biotech

Status: Enrolling

Conditions: Epidermolysis Bullosa Dystrophica, Recessive; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa Dystrophica Dominans

Study type: Observational

Funder types: Industry

Identifiers

NCT06563414

B-VEC-EYE-NHS

Details and patient eligibility

About

This study is a non-interventional, observational study that will evaluate the natural history of corneal abrasions in patients with Dystrophic Epidermolysis Bullosa (DEB). Corneal abrasion symptomology, frequency, and outcomes will be evaluated for up to 6 months.

Full description

The objective of this study is to characterize the natural history of corneal abrasions in patients with Dystrophic Epidermolysis Bullosa (DEB). Patients will be followed via remote weekly symptom diaries and monthly questionnaires to assess corneal abrasion symptoms, frequency, and duration.

At designated clinical sites, subjects may also have the option to participate in a concurrent substudy with clinical assessments including slit lamp exam with fluorescein staining, imaging, and measurement of visual acuity.

Patients are followed for up to 6 months.

Enrollment: 15 estimated patients

Sex: All

Ages: 6+ months old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

1. The subject or their respective legal guardian must have read, understood, and signed an Institutional Review Board (IRB) approved Informed Consent/Assent Form and must be able to and willing to follow study procedures and instructions.
2. Age 6 months or older at time of Informed Consent/Assent.
3. Prior genetic diagnosis of DEB due to mutation(s) in the collagen type VII alpha 1 chain (COL7A1) gene.