NCT04727268

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 will be correlated with their clinical characteristics.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
20

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Sep 2021

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 22, 2021

Completed
5 days until next milestone

First Posted

Study publicly available on registry

January 27, 2021

Completed
8 months until next milestone

Study Start

First participant enrolled

September 27, 2021

Completed
3 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 30, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 30, 2021

Completed
Last Updated

October 4, 2021

Status Verified

September 1, 2021

Enrollment Period

3 months

First QC Date

January 22, 2021

Last Update Submit

September 27, 2021

Conditions

Junctional Epidermolysis BullosaLaryngo Onycho Cutaneous Syndrome

Keywords

Open access databaseJunctional Epidermolysis BullosaGenotype phenotype correlation

Outcome Measures

Primary Outcomes (1)

  • Genotype and phenotype data collection

    The primary objective is to systematically collect genetic and clinical data of junctional epidermolysis bullosa (JEB) patients and to explore whether there are any relationships between participants' genetic defects and the severity of disease.

    6 months

Secondary Outcomes (1)

  • Bioinformatic analysis

    10 months

Study Arms (1)

Group 1

Retrospective data regarding genetic information will be collected from participants' medical records. Deep phenotyping of participants will also be completed.

Other: No intervention

Interventions

No interventionOTHER

No interventions present in this study.

Group 1

Eligibility Criteria

Age0 Years - 75 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients diagnosed with JEB, confirmed through genetic testing.

You may qualify if:

  • 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).

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Solihull Hospital

Solihull, West Midlands, B91 2JL, United Kingdom

Location

Related Publications (2)

  • Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020 Oct;183(4):614-627. doi: 10.1111/bjd.18921. Epub 2020 Mar 11.

    PMID: 32017015BACKGROUND

  • Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH. Epidermolysis bullosa. Nat Rev Dis Primers. 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0.

    PMID: 32973163BACKGROUND

MeSH Terms

Conditions

Epidermolysis Bullosa, JunctionalLaryngo onycho cutaneous syndrome

Condition Hierarchy (Ancestors)

Epidermolysis BullosaSkin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornSkin DiseasesSkin and Connective Tissue DiseasesSkin Diseases, Vesiculobullous

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
OTHER
Target Duration
1 Day
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Dermatology Fellow

Study Record Dates

First Submitted

January 22, 2021

First Posted

January 27, 2021

Study Start

September 27, 2021

Primary Completion

December 30, 2021

Study Completion

December 30, 2021

Last Updated

October 4, 2021

Record last verified: 2021-09

Data Sharing

IPD Sharing
Will share

Once data collection and analysis has been completed, anonymised data regarding genotype and phenotype will be presented at scientific meetings and publised in journals and / or postgraduates theses.

Locations

GB(1)