Epidermolysis Bullosa DystrophicaNCT05843994
Artificial Intelligence Patient App for RDEB SCCs
An observational study of Epidermolysis Bullosa Dystrophica, run by Northwestern University at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Epidermolysis Bullosa Dystrophica
- What is being tested?
- online survey
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Jan 2023to 30 Nov 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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
Who may be able to join
- patient with recessive dystrophic epidermolysis bullosa
- patient with history of cutaneous squamous cell carcinoma
- patient consent for upload and use of clinical data and photographs
Who cannot join
- Patients who do not agree to upload and use of photographs and clinical data
Trial locations and contacts
1 site in 1 country.
United States1 site
Department of Dermatology, Northwestern University Feinberg School of Medicine and Lurie Children's Hospital
Chicago, Illinois, 60611
About this study
Official title: Developing a Novel Artificial Intelligence Patient App to Recognize Squamous Cell Carcinoma (SCCs) in Recessive Dystrophic Epidermolysis Bullosa (RDEB): Image Collection
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.
Read the detailed description
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
- Conditions
- Epidermolysis Bullosa Dystrophica
- Being tested
- online survey
- Keywords
- epidermolysis bullosa, skin abnormalities, congenital abnormalities, skin disease, genetic, genetic diseases, inborn, skin diseases, skin disease, vesiculobullous, carcinoma, squamous cell, skin neoplasms, artificial intelligence
- Medical subject headings
- Epidermolysis Bullosa Dystrophica, Epidermolysis Bullosa, Skin Abnormalities, Congenital Abnormalities, Skin Diseases, Genetic, Genetic Diseases, Inborn, Skin Diseases, Skin Diseases, Vesiculobullous
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
online surveyOther
Participants will complete an online survey and submit photographs.
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: one day survey
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2023
- Study start30 Jan 2023
- Primary completion30 Nov 2028 (estimated)
- Study completion30 Nov 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Epidermolysis Bullosa DystrophicaStudies of the same condition, open and under way.
- More trials run by Northwestern UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Northwestern University
- Sponsor type
- University, hospital or other
- Collaborators
- Epidermolysis Bullosa Research Partnership
- Responsible party
- Principal investigator, Amy Paller, Northwestern University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05843994
- Sponsor's protocol ID
- 2023-5810
- Status last verified
- Jan 2026
- First submitted
- 24 Apr 2023
- Last updated
- 3 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Developing a Novel Artificial Intelligence Patient App to Recognize Squamous Cell Carcinoma (SCCs) in Recessive Dystrophic Epidermolysis Bullosa (RDEB): Image Collection
- ClinicalTrials.gov ID
- NCT05843994
- Acronym / sponsor ID
- 2023-5810
- Conditions
- Epidermolysis Bullosa Dystrophica
- Keywords
- epidermolysis bullosa, skin abnormalities, congenital abnormalities, skin disease, genetic, genetic diseases, inborn, skin diseases, skin disease, vesiculobullous, carcinoma, squamous cell
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Northwestern UniversityUniversity, hospital or other
- Collaborators
- Epidermolysis Bullosa Research Partnership
- Study start
- 30 Jan 2023 (actual)
- Primary completion
- 30 Nov 2028 (estimated)
- Study completion
- 30 Nov 2028 (estimated)
- First posted
- 6 May 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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
Key inclusion criteria (3 listed)
- patient with recessive dystrophic epidermolysis bullosa
- patient with history of cutaneous squamous cell carcinoma
- patient consent for upload and use of clinical data and photographs
Key exclusion criteria (1 listed)
- Patients who do not agree to upload and use of photographs and clinical data
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| online surveyParticipants will complete an online survey and submit photographs. | Other | – |
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Feb 2026.
- Individual participant dataSharing planned: No
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RDEB
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Epidermolysis Bullosa Dystrophica, run by Northwestern University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 3 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Feb 2026.