Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

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 or disease
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.

Study Design

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type :	Observational
Actual Enrollment :	0 participants
Observational Model:	Cohort
Time Perspective:	Prospective
Official Title:	A Prospective, Longitudinal Assessment of Disease Severity in Subjects With Dystrophic Epidermolysis Bullosa (DEB)
Study Start Date :	February 2013
Estimated Primary Completion Date :	September 2014
Estimated Study Completion Date :	September 2014

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort
No treatment; Subjects diagnosed with Dystrophic Epidermolysis Bullosa

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :

1. Characterize the progression of disease severity in subjects with DEB over 6 - 12 months. [ Time Frame: One year period ]
   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.

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	Child, Adult, Senior
Sexes Eligible for Study:	All
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

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Additional Information:

Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA) 

Lotus Tissue Repair, Inc. 

Dystrophic Epidermolysis Bullosa Research Association International 

Responsible Party:	Lotus Tissue Repair, Inc.
ClinicalTrials.gov Identifier:	NCT01768026 History of Changes
Other Study ID Numbers:	DEB-101-12
First Posted:	January 15, 2013
Last Update Posted:	May 21, 2013
Last Verified:	February 2013

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