Actively Recruiting
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Led by National Cancer Institute (NCI) · Updated on 2026-03-17
200
Participants Needed
1
Research Sites
666 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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....
CONDITIONS
Official Title
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Persons aged 12 years and older with Fanconi anemia, primarily from North America
- Children aged 8 to 11 years with Fanconi anemia who have persistent oral potentially malignant lesions, difficulty swallowing, or other concerning symptoms
- Individuals with a prior cancer diagnosis
- Individuals from other countries who can travel to the USA on their own
- Ability of the individual, parent, legal authorized representative, or guardian to understand and provide informed consent
You will not qualify if you...
- Individuals whose Fanconi anemia diagnosis cannot be verified
- Individuals or their guardians who cannot understand or are unwilling to sign informed consent
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
N
NCI Family Study Referrals
CONTACT
L
Lisa J McReynolds, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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