Working… Menu

Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01768026
Recruitment Status : Withdrawn
First Posted : January 15, 2013
Last Update Posted : May 21, 2013
Information provided by (Responsible Party):
Lotus Tissue Repair, Inc.

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.

Layout table for study 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

No treatment
Subjects diagnosed with Dystrophic Epidermolysis Bullosa

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.

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
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

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01768026

Layout table for location information
United States, California
Stanford University School of Medicine
Palo Alto, California, United States, 94304
Sponsors and Collaborators
Lotus Tissue Repair, Inc.
Layout table for investigator information
Study Director: Hal Landy, MD Lotus Tissue Repair, Inc.
Additional Information:
Layout table for additonal information
Responsible Party: Lotus Tissue Repair, Inc. Identifier: NCT01768026    
Other Study ID Numbers: DEB-101-12
First Posted: January 15, 2013    Key Record Dates
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:
Layout table for 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