Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia

Status: Recruiting
Location: See location...
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 8
Maximum Age: 90
Healthy Volunteers: f
View:

⁃ On referral, persons \>= 12 years with FA primarily from North America will be included. An individual with FA who is 8 - 11 years can also be included if they have a history of persistent OPMLs, dysphagia, or other concerning symptoms.

• Individuals with prior cancer diagnosis are eligible.

• Individuals from other countries are eligible provided they can travel to the USA on their own.

• Ability to understand and/or the willingness of the individual, parent, LAR, or minor s legal guardian to provide informed consent.

Locations
United States
Maryland
National Institutes of Health Clinical Center
RECRUITING
Bethesda
Contact Information
Primary
NCI Family Study Referrals
ncifamilystudyreferrals@mail.nih.gov
(800) 518-8474
Backup
Neelam Giri, M.D.
girin@mail.nih.gov
(240) 276-7256
Time Frame
Start Date: 2023-03-23
Estimated Completion Date: 2035-12-31
Participants
Target number of participants: 200
Treatments
Fanconi anemia
A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)
Sponsors
Leads: National Cancer Institute (NCI)

This content was sourced from clinicaltrials.gov

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