Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa
- Full Text View
- Tabular View
- No Study Results Posted
- Disclaimer
- How to Read a Study Record
Purpose
The objective of this study is to characterize the extent and severity of disease in subjects with DEB and the progression of disease over a timeframe relevant to interventional studies. The data from this study will be used to inform the study design and address statistical considerations of future treatment protocols.
| Condition |
|---|
|
Dystrophic Epidermolysis Bullosa |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort Time Perspective: Prospective |
| Official Title: | A Prospective, Longitudinal Assessment of Disease Severity in Subjects With Dystrophic Epidermolysis Bullosa (DEB) |
- Characterize the progression of disease severity in subjects with DEB over 6 - 12 months. [ Time Frame: One year period ] [ Designated as safety issue: No ]Disease severity and its impact on quality of life and function will be investigated over a one year period at the following timepoints: upon enrollment, and at 1 to 2 weeks and 6 and 12 months after enrollment.
| Enrollment: | 0 |
| Study Start Date: | February 2013 |
| Estimated Study Completion Date: | September 2014 |
| Estimated Primary Completion Date: | September 2014 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
No treatment
Subjects diagnosed with Dystrophic Epidermolysis Bullosa
|
Detailed Description:
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| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Patients will be selected from clinical sites with interdisciplinary clinics for Dystrophic Epidermolysis Bullosa
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
Contacts and LocationsPlease refer to this study by its ClinicalTrials.gov identifier: NCT01768026
| United States, California | |
| Stanford University School of Medicine | |
| Palo Alto, California, United States, 94304 | |
| Study Director: | Hal Landy, MD | Lotus Tissue Repair, Inc. |
More Information
Additional Information:
No publications provided
| Responsible Party: | Lotus Tissue Repair, Inc. |
| ClinicalTrials.gov Identifier: | NCT01768026 History of Changes |
| Other Study ID Numbers: | DEB-101-12 |
| Study First Received: | January 10, 2013 |
| Last Updated: | May 20, 2013 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Lotus Tissue Repair, Inc.:
|
Dystrophic Epidermolysis Bullosa Type VII Collagen QOL Evaluation in Epidermolysis Bullosa Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa Birmingham Epidermolysis Bullosa Severity Score |
Additional relevant MeSH terms:
|
Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica Collagen Diseases Congenital Abnormalities Connective Tissue Diseases |
Genetic Diseases, Inborn Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin Diseases, Vesiculobullous |
ClinicalTrials.gov processed this record on March 01, 2015