RecruitingNCT05687149

Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia


Sponsor

National Cancer Institute (NCI)

Enrollment

200 participants

Start Date

Mar 23, 2023

Study Type

OBSERVATIONAL

Conditions

Summary

Background: Fanconi anemia (FA) is an inherited disorder. People with FA are more likely to get certain cancers, especially squamous cell carcinoma (SCC). These cancers usually appear first in the mouth, esophagus, and genital and anal areas. Early detection of SCCs may help improve survival rates for people with FA. Objective: This natural history study will regularly screen people with FA for SCC. Eligibility: People aged 12 years and older with FA or a prior cancer diagnosis. Children aged 8 to 11 years with FA may also be eligible. Design: Participants will receive a comprehensive screening for cancer or early signs of cancer. Participants will have a physical exam. They will provide blood and saliva samples. Cells will be collected by rubbing a swab on the inside of the cheeks. A skin sample may be removed from the back, buttocks, or inside of the upper arm. Participants will have pictures taken of their mouth. Any mouth sores will be mapped. Cells will be collected from the sores with a small brush. Specialists will examine the participant s ears, nose, throat, teeth, and skin. Adult participants may have a gastrointestinal exam or pelvic exam. Participants may have an endoscopy. A long tube with a camera and a light will be inserted through the mouth and down into the stomach. Participants may have a liver ultrasound. A wand will be pressed against their belly to get pictures of the organs inside the body. Participants will have screenings every year for up to 10 years. Each visit will last up to 3 days. They will have remote follow-up visits every 6 - 8 months....


Eligibility

Min Age: 8 YearsMax Age: 90 Years

Plain Language Summary

Simplified for easier understanding

This study follows people with Fanconi anemia — a rare inherited condition — to better understand how and when squamous cell carcinoma (a type of cancer affecting the skin and mucous membranes, especially the mouth and throat) develops in this population. **You may be eligible if...** - You have Fanconi anemia, primarily from North America - You are 12 years or older (or 8–11 years with a history of persistent mouth lesions, difficulty swallowing, or other concerning symptoms) - You have had a prior cancer diagnosis — this does not disqualify you - You can travel to the United States if you live outside the country - You or your parent/guardian can provide informed consent **You may NOT be eligible if...** - Your Fanconi anemia diagnosis cannot be verified - You or your guardian cannot or will not sign the informed consent form Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

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NCT05687149


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