Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa

NCT01768026 | Withdrawn

• 1 other identifier: DEB-101-12
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Dystrophic Epidermolysis Bullosa

Keywords

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

Outcome Measures

Primary Outcomes (1)

• Characterize the progression of disease severity in subjects with DEB over 6 - 12 months.

  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.

  One year period

Study Arms (1)

No treatment

Subjects diagnosed with Dystrophic Epidermolysis Bullosa

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• Lotus Tissue Repair, Inc.: lead

Study Sites (1)

Stanford University School of Medicine

Palo Alto, California, 94304, United States

Location

Related Links

• Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA)
• EB Care Patient Reported Registry
• Lotus Tissue Repair, Inc.
• Dystrophic Epidermolysis Bullosa Research Association International

MeSH Terms

Conditions

Epidermolysis Bullosa Dystrophica

Condition Hierarchy (Ancestors)

Epidermolysis Bullosa; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Skin Diseases, Vesiculobullous

Study Officials

• Hal Landy, MD

  Lotus Tissue Repair, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 10, 2013
• First Posted: January 15, 2013
• Study Start: February 1, 2013
• Primary Completion: September 1, 2014
• Study Completion: September 1, 2014
• Last Updated: May 21, 2013

Record last verified: 2013-02

Locations

US (1)