UnknownNot Applicable

Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa

United Kingdom20 participantsStarted 2021-09-27

Plain-language 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 will be correlated with their clinical characteristics.

Who can participate

Age range0 Years – 75 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: 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 Criteria: 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.

What they're measuring

Genotype and phenotype data collection

Timeframe: 6 months

Trial details

NCT IDNCT04727268

SponsorUniversity Hospital Birmingham NHS Foundation Trust

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2021-12-30

View on ClinicalTrials.gov More Junctional Epidermolysis Bullosa trials