Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa - Full Text View

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)

Resource links provided by NLM:

Genetics Home Reference related topics: dystrophic epidermolysis bullosa epidermolysis bullosa simplex epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa

Genetic and Rare Diseases Information Center resources: Epidermolysis Bullosa Dystrophic Epidermolysis Bullosa

U.S. FDA Resources

Further study details as provided by Lotus Tissue Repair, Inc.:

Primary Outcome Measures:

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


Ages Eligible for Study:	Child, Adult, Senior
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Patients will be selected from clinical sites with interdisciplinary clinics for Dystrophic Epidermolysis Bullosa

Criteria

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 Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01768026

Locations


United States, California
Stanford University School of Medicine
Palo Alto, California, United States, 94304

Sponsors and Collaborators

Lotus Tissue Repair, Inc.

Investigators


Study Director:	Hal Landy, MD	Lotus Tissue Repair, Inc.

More Information

Additional Information:

Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA) This link exits the ClinicalTrials.gov site

Lotus Tissue Repair, Inc. This link exits the ClinicalTrials.gov site

Dystrophic Epidermolysis Bullosa Research Association International This link exits the ClinicalTrials.gov site


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 Skin Abnormalities Congenital Abnormalities Skin Diseases, Genetic	Genetic Diseases, Inborn Skin Diseases Skin Diseases, Vesiculobullous Collagen Diseases Connective Tissue Diseases

ClinicalTrials.gov processed this record on September 28, 2016