Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa

NCT ID: NCT01768026

Last Updated: 2013-05-21

Basic Information

• Recruitment Status: WITHDRAWN
• Study Classification: OBSERVATIONAL
• Study Start Date: 2013-02-28
• Study Completion Date: 2014-09-30

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.

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.

Conditions

Dystrophic Epidermolysis Bullosa

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

No treatment

Subjects diagnosed with Dystrophic Epidermolysis Bullosa

No interventions assigned to this group

Eligibility Criteria

Inclusion 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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Lotus Tissue Repair, Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Hal Landy, MD

Role: STUDY_DIRECTOR

Lotus Tissue Repair, Inc.

Locations

Stanford University School of Medicine

Palo Alto, California, United States

Countries

United States

Related Links

http://www.debra.org/

Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA)

https://ebcare.patientcrossroads.org/

EB Care Patient Reported Registry

http://www.lotustissuerepair.com/

Lotus Tissue Repair, Inc.

http://www.debra-international.org/homepage.html

Dystrophic Epidermolysis Bullosa Research Association International

Other Identifiers

DEB-101-12

Identifier Type: -

Identifier Source: org_study_id