An observational study in Epidermolysis Bullosa Dystrophica, sponsored by Northwestern University. Active, not recruiting at 1 site in United States. Open to participants aged 12 Years and older. Per ClinicalTrials.gov, last updated 2026-02-03.
Sponsored by Northwestern University · Observational
In this study, an artificial intelligence model to detect squamous cell carcinomas (SCC) on photos of recessive dystrophic epidermolysis bullosa (RDEB) skin is developed. The ultimate goal is to integrate this model into an app for patients and physicians, to help detect SCCs in RDEB early.
SCCs which rapidly metastasize are the main cause of death in adults with RDEB. The earlier an SCC is recognized, the easier it can be removed and the better the outcome. AI leverages computer science to perform tasks that typically require human intelligence and has recently been used to identify skin cancers based on images. We are currently developing an AI approach for early detection of SCC and distinction of malignancy from chronic wounds and other RDEB skin findings. The aim is to create a web application for patients with RDEB to upload images of their skin and get an output as to SCC present/ no SCC. This will be especially valuable for patients with difficult access to medical expertise and those who are hesitant to allow full skin examination at each visit, often because of fear of biopsies. Thus, this project will directly benefit patients by allowing early recognition of SCCs and will empower patients and their families by providing a home use tool.
So far, the study team has mainly used professional images (photographs taken in hospital settings by physicians, nurses, and clinical photographers) of both SCCs in RDEB and images of RDEB skin without SCC to develop and train the AI model. The images that are expected in a real-life setting will mostly be pictures taken by patients or family members with their phones or digital cameras. These images have different properties regarding resolution, focus, lighting, and backgrounds. Incorporating such images will be crucial in the upcoming phases of model development-testing and validation-for the web application be a success for patients.
This project will enroll adolescents and adults with RDEB and history of at least one SCC. The survey and consents will be provided in English, Spanish, German, French, Arabic, Chinese, and Russian. The study team is inviting people with RDEB around the world to participate and are hoping that approximately 100 people will provide images.
Participants will be asked to complete the survey and upload photographs of SCC(s) using the links below. Depending on the number of SCCs they have had and the number of photos they want to provide, the survey will take approximately 15-20 minutes to complete.
To participate in this study, please follow this link:
https://redcap.nubic.northwestern.edu/redcap/surveys/?s=JH9LHR4CC4R4H3HN
78 studies on the registry are indexed under Epidermolysis Bullosa Dystrophica; 21 are open to participants now.
This study's enrollment of 20 is below the median of 35 across 18 observational studies indexed under Epidermolysis Bullosa Dystrophica.
Browse Epidermolysis Bullosa Dystrophica studies →Northwestern University is the lead sponsor of 1,423 studies on the registry; 198 are open to participants now.
Of its 105 completed or terminated interventional studies of FDA-regulated products, 78 (74%) have results posted.
Counted across the registry records on this site, refreshed daily.
Patients with RDEB worldwide are invited to participate in this virtual research to contribute photographs of their SCCs.
To participate in this study, please follow this link: https://redcap.nubic.northwestern.edu/redcap/surveys/?s=JH9LHR4CC4R4H3HN
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Participants will complete an online survey and submit photographs.
Percent agreement of the presence or absence of squamous cell carcinoma (SCC) on the skin in photographs as detected by the App versus confirmed physician diagnosis
Time frame: one day survey
Plan to share: No
No publications or documents are linked to this record.
Started Jan 2023 (actual). Primary completion is estimated for Nov 2028, 70 months after the start.
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This study is active, not recruiting, as verified in Jan 2026. You cannot join it, but the record below documents what was studied.
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Epidermolysis Bullosa Dystrophica →