Symptoms and General Pathology

All Conditions

Neoplasms

Digestive System Diseases

Diseases and Abnormalities at or Before Birth

Mouth and Tooth Diseases

Ear, Nose, and Throat Diseases

Rare Diseases

Syndrome

Adenoma

Adenomatous Polyposis Coli

Genetic Diseases, Inborn

Gastrointestinal Diseases

Gastrointestinal Neoplasms

Intestinal Neoplasms

Intestinal Diseases

Disease Progression

Duodenal Neoplasms

Polyps

Digestive System Neoplasms

Adenomatous Polyps

Neoplastic Syndromes, Hereditary

Colorectal Neoplasms

Nasopharyngeal Neoplasms

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Colonic Diseases

Rectal Diseases

Pharyngeal Neoplasms

Otorhinolaryngologic Neoplasms

Head and Neck Neoplasms

Nasopharyngeal Diseases

Pharyngeal Diseases

Stomatognathic Diseases

Otorhinolaryngologic Diseases

Intestinal Polyposis

Duodenal Diseases

Familial Adenomatous Polyposis

MYH-associated Polyposis

Gastrointestinal Agents

All Drugs and Chemicals

Anti-Inflammatory Agents

Antirheumatic Agents

Analgesics

Ursodeoxycholic Acid

Celecoxib

Anti-Inflammatory Agents, Non-Steroidal

Cyclooxygenase Inhibitors

Analgesics, Non-Narcotic

Cyclooxygenase 2 Inhibitors

Enzyme Inhibitors

Patients receive oral celecoxib twice daily and oral placebo twice daily

Patients receive oral celecoxib twice daily and oral ursodeoxycholic acid twice daily

Celecoxib: 400mg twice daily, orally, 6 months

Ursodeoxycholic acid: orally, 6 months, dosage based on body weight:

below 50 kg: 1000mg, divided in two daily doses; 50-70 kg: 1500mg, divided in two daily doses; over 70 kg: 2000mg, divided in two daily doses

Ursodeoxycholic acid

Placebo: orally, 6 months, dosage based on body weight:

below 50 kg: 1000mg, divided in two daily doses; 50-70 kg: 1500mg, divided in two daily doses; over 70 kg: 2000mg, divided in two daily doses

Placebo

Fokko M Nagengast, MD, Ph D

Bjorn WH van Heumen, MD

Wilbert HM Peters, Ph D

Ellen Kampman, Ph D

Duodenal carcinomas are the leading cause of mortality in patients with Familial Adenomatous Polyposis (FAP) who underwent prophylactic colorectal surgery. The purpose of this study is to determine wether celecoxib combined with ursodeoxycholic acid is an effective chemoprevention strategy to influence the progression of duodenal adenomas to carcinomas in patients with FAP.

Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis

Prevention of Progression of Duodenal Adenomas to Cancer in Patients With Familial Adenomatous Polyposis (FAP)

Dutch Cancer Society

Radboud University Medical Center

Skin and Connective Tissue Diseases

Musculoskeletal Diseases

Skin Diseases

Carcinoma

Carcinoma, Squamous Cell

Congenital Abnormalities

Skin Abnormalities

Epidermolysis Bullosa

Epidermolysis Bullosa Dystrophica

Skin Neoplasms

Skin Diseases, Vesiculobullous

Skin Diseases, Genetic

Rheumatic Diseases

Collagen Diseases

Connective Tissue Diseases

Dystrophic Epidermolysis Bullosa

Recessive Dystrophic Epidermolysis Bullosa

Participants will complete an online survey and submit photographs.

online survey

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

Artificial Intelligence Patient App for RDEB SCCs

Developing a Novel Artificial Intelligence Patient App to Recognize Squamous Cell Carcinoma (SCCs) in Recessive Dystrophic Epidermolysis Bullosa (RDEB): Image Collection

Epidermolysis Bullosa Research Partnership

Northwestern University

Principal Investigator

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis	NCT00808743	Familial Adenom... Duodenal Neopla... Duodenal Polyps	Celecoxib Ursodeoxycholic... Placebo	18 Years - 70 Years	Radboud University Medical Center
Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis	NCT00808743	Familial Adenom... Duodenal Neopla... Duodenal Polyps	Celecoxib Ursodeoxycholic... Placebo	18 Years - 70 Years	Radboud University Medical Center
Artificial Intelligence Patient App for RDEB SCCs	NCT05843994	Epidermolysis B...	online survey	12 Years -	Northwestern University

Spots Global Cancer Trial Database for genetic diseases, inborn