Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
2 other identifiers
observational
200
1 country
1
Brief 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....
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2023
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
January 14, 2023
CompletedFirst Posted
Study publicly available on registry
January 18, 2023
CompletedStudy Start
First participant enrolled
March 23, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2035
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2035
March 17, 2026
March 13, 2026
12.8 years
January 14, 2023
March 14, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (3)
Screen Patients with FA
Prospectively screen individuals with FA for early indicators for the development of esophageal and anogenital SCC.
ongoing
Clinical and Pathological Natural History of Oral Potentially Malignant Lesion
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.
ongoing
Cohort of Patients with FA
A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)
ongoing
Study Arms (1)
Fanconi anemia
A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)
Eligibility Criteria
Persons \>=12 years with FA primarily from North America will be included in the study. Persons \< 12 years can also be included if they have a history of persistent oral potentially malignant lesions, dysphagia, or other concerning symptoms. Persons with FA from other countries are eligible provided they can travel to USA on their own.
You may qualify if:
- 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.
You may not qualify if:
- Referred individuals for whom reported diagnosis of FA cannot be verified.
- Inability of the individual, parent, LAR, or legal guardian to understand and be willing to sign a written informed consent document.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Publications (2)
Velleuer E, Dietrich R, Pomjanski N, de Santana Almeida Araujo IK, Silva de Araujo BE, Sroka I, Biesterfeld S, Bocking A, Schramm M. Diagnostic accuracy of brush biopsy-based cytology for the early detection of oral cancer and precursors in Fanconi anemia. Cancer Cytopathol. 2020 Jun;128(6):403-413. doi: 10.1002/cncy.22249. Epub 2020 Feb 5.
PMID: 32022466BACKGROUNDAlter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018 Jan;103(1):30-39. doi: 10.3324/haematol.2017.178111. Epub 2017 Oct 19.
PMID: 29051281BACKGROUND
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Lisa J McReynolds, M.D.
National Cancer Institute (NCI)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 14, 2023
First Posted
January 18, 2023
Study Start
March 23, 2023
Primary Completion (Estimated)
December 31, 2035
Study Completion (Estimated)
December 31, 2035
Last Updated
March 17, 2026
Record last verified: 2026-03-13