Epidermolysis Bullosa Dystrophica, Epidermolysis Bullosa Dystrophica Dominans, Epidermolysis Bullosa Dystrophica, Recessive
Conditions
Keywords
Dystrophic Epidermolysis Bullosa, DEB, Corneal Abrasions
Brief summary
This study is a non-interventional, observational study that will evaluate the natural history of corneal abrasions in patients with Dystrophic Epidermolysis Bullosa (DEB).
Detailed 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.
Interventions
None listed
Sponsors
Krystal Biotech, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Months to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Corneal abrasion frequency | Baseline through up to 1 year | Frequency of corneal abrasion symptoms |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Epidermolysis Bullosa Eye Disease Index Symptom Score | Baseline through up to 1 year | Symptom score for Epidermolysis Bullosa related eye problems, 0 to 30 (higher score indicates worse symptoms) |
Countries
United States
Contacts
Primary ContactDavid Chien, MD
Backup ContactBrittani Agostini, RN, CCRC
Outcome results
None listed