Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
NCT ID: NCT05687149
Last Updated: 2025-12-26
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
200 participants
OBSERVATIONAL
2023-03-23
2035-12-31
Brief Summary
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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....
Detailed Description
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This is a natural history study involving questionnaires, clinical and research evaluations, clinical and research laboratory tests, review of medical records, and cancer surveillance. A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC) will be screened and provide new information on oral potentially malignant lesion (OPML) development and robustly quantify the risk of progression of OPML to cancer in FA.
Objectives:
Primary Objectives:
1. To establish a central program and a team of expert clinicians and scientists at the NIH Clinical Center to conduct a comprehensive longitudinal study of cancer screening in adolescent and young adults (AYA) with FA at high risk of SCC through detailed clinical evaluation and biospecimen collection.
2. To characterize the clinical and pathological natural history of OPMLs in AYAs with FA using brush biopsies for cytopathologic diagnosis and DNA aneuploidy and correlate those findings with tissue biopsies and genomic analyses of oral epithelial dysplasia (OED) and SCC.
3. To prospectively screen individuals with FA for early indicators for the development of esophageal and anogenital SCC and hematological malignancy.
Secondary Objectives:
1. To identify genetic, epigenetic, and immunologic mechanisms underlying tumorigenesis and immune escape in individuals with FA.
2. To facilitate the enrollment of individuals with FA with high-grade dysplasia or SCC in intra- and extra-mural precision intervention trials.
Endpoints:
Primary Endpoints:
1. Characterize the natural history of OPMLs in FA, rates of progression, regression, and development of new lesions
2. Determine the utility of brush biopsy to identify oral dysplasia and SCC in FA
3. Identify potential precursor states for esophageal and anogenital cancers in FA
4. Develop screening guidelines for esophageal and anogenital cancer in FA
Secondary Endpoints:
1. Identify predictive biomarkers of oral SCC development
2. Characterize genetic and epigenetic changes that lead to SCC development
3. Facilitate patient enrollment in intervention trials
Conditions
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Keywords
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Study Design
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COHORT
OTHER
Study Groups
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Fanconi anemia
A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
2. Individuals with prior cancer diagnosis are eligible.
3. Individuals from other countries are eligible provided they can travel to the USA on their own.
4. Ability to understand and/or the willingness of the individual, parent, LAR, or minor s legal guardian to provide informed consent.
Exclusion Criteria
2. Inability of the individual, parent, LAR, or legal guardian to understand and be willing to sign a written informed consent document.
8 Years
90 Years
ALL
No
Sponsors
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National Cancer Institute (NCI)
NIH
Responsible Party
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Principal Investigators
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Lisa J McReynolds, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Cancer Institute (NCI)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
Role: primary
References
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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.
Alter 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.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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001109-C
Identifier Type: -
Identifier Source: secondary_id
10001109
Identifier Type: -
Identifier Source: org_study_id