Understanding Squamous Cell Carcinoma in Fanconi Anemia

This study is looking at how squamous cell carcinoma (SCC), a type of cancer, develops in people with Fanconi Anemia (FA), an inherited disorder. People with FA are at higher risk for SCC, especially in the mouth, esophagus, and genital areas. This observational study aims to regularly screen individuals with FA to better understand the natural history of these cancers and early signs of cancer. The study is open to people with FA aged 12 and older, and some children aged 8-11 with specific symptoms. Researchers will collect information through questionnaires, physical exams, blood and saliva samples, and by reviewing medical records. The goal is to improve early detection of SCC in people with FA.

Study design
This is an observational study planning to enroll 200 participants. It involves comprehensive screening for cancer or early signs of cancer.
What's involved
Participants will have a physical exam and provide blood and saliva samples. They will also complete questionnaires and undergo clinical and research evaluations.
Compensation
Not stated in the trial record.
Follow-up
The study measures outcomes like screening patients with FA and the natural history of oral lesions on an ongoing basis.

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NCT05687149

Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia

Recruiting
Not specifiedAges 8–90Observational
National Cancer Institute (NCI)
~200 participants
Updated 2026-08-31 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Screen Patients with FA
Measured over ongoing
+2 more outcomes measured
Fanconi Anemia
Inherited Bone Marrow Failure Syndrome
1 sites across 1 states
Maryland1
  • Lisa J McReynolds, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

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  • Screen Patients with FAongoing

    Prospectively screen individuals with FA for early indicators for the development of esophageal and anogenital SCC.

  • Clinical and Pathological Natural History of Oral Potentially Malignant Lesionongoing

    Characterize the clinical and pathological natural history of OPMLs in AYAs with FA using brush biopsies for cytopathologic diagnosis and aneuploidy and correlate those findings with tissue biopsies and genomic analyses of oral epithelial dysplasia (OED) and SCC.

  • Cohort of Patients with FAongoing

    A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)