Status:
UNKNOWN
Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa
Lead Sponsor:
University Hospital Birmingham NHS Foundation Trust
Collaborating Sponsors:
Dystrophic Epidermolysis Bullosa Research Association (DEBRA)
University of Birmingham
Conditions:
Junctional Epidermolysis Bullosa
Laryngo Onycho Cutaneous Syndrome
Eligibility:
All Genders
Up to 75 years
Brief Summary
This study will collect genetic and clinical information of junctional epidermolysis bullosa (JEB) patients. Computer analysis will be performed on genetic mutations found in these patients and this w...
Detailed Description
Junctional epidermolysis bullosa (JEB) is a rare genetic skin disease where genetic defects in skin proteins result in extensive blistering in response to mild mechanical stress. Patients are often af...
Eligibility Criteria
Inclusion
- Adults and children with a diagnosis of JEB or LOC syndrome, which has been confirmed with genetic testing. A mutation is present in one of the following genes: LAMA3, LAMB3, LAMC2 or COL17A1.
- Current JEB patients, or JEB patients within the last 5 years who have used the EB service at Solihull hospital or Birmingham Women's and Children's Hospital. This includes patients who are living and also those who passed away in the last 5 years (eg from severe JEB).
Exclusion
- Adult patients who are unable to give informed consent. Child patients who do not assent and/ or have no one appropriate who can consent on their behalf.
- Persons who might not adequately understand verbal explanations or written information given in English.
Key Trial Info
Start Date :
September 27 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 30 2021
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT04727268
Start Date
September 27 2021
End Date
December 30 2021
Last Update
October 4 2021
Active Locations (1)
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1
Solihull Hospital
Solihull, West Midlands, United Kingdom, B91 2JL