Fanconi AnemiaNCT05687149
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
An observational study of Fanconi Anemia and Inherited Bone Marrow Failure Syndrome, run by National Cancer Institute (NCI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 8 to 90 years
- Conditions the study is for
- Fanconi Anemia, Inherited Bone Marrow Failure Syndrome
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Mar 2023to 31 Dec 2035
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 to 90 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact National Cancer Institute Referral Office, 888-624-1937
About this study
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.
Read more
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....
Read the detailed description
Study Description:
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:
- 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.
- 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.
- To prospectively screen individuals with FA for early indicators for the development of esophageal and anogenital SCC and hematological malignancy.
Secondary Objectives:
- To identify genetic, epigenetic, and immunologic mechanisms underlying tumorigenesis and immune escape in individuals with FA.
- 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:
- Characterize the natural history of OPMLs in FA, rates of progression, regression, and development of new lesions
- Determine the utility of brush biopsy to identify oral dysplasia and SCC in FA
- Identify potential precursor states for esophageal and anogenital cancers in FA
- Develop screening guidelines for esophageal and anogenital cancer in FA
Secondary Endpoints:
- Identify predictive biomarkers of oral SCC development
- Characterize genetic and epigenetic changes that lead to SCC development
- Facilitate patient enrollment in intervention trials
- Keywords
- Hereditary, Inherited Bone Marrow Failure Syndrome, Oral Potentially Malignant Lesion, Surveillance, Precancer
- Medical subject headings
- Fanconi Anemia, Congenital Bone Marrow Failure Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Fanconi anemia | A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Screen Patients with FA
Prospectively screen individuals with FA for early indicators for the development of esophageal and anogenital SCC.
Measured: 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.
Measured: ongoing
Cohort of Patients with FA
A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jan 2023
- Study start23 Mar 2023
- Primary completion31 Dec 2035 (estimated)
- Study completion31 Dec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Fanconi AnemiaStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Lisa J McReynolds, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05687149
- Sponsor's protocol ID
- 10001109
- Other IDs
- 001109-C
- Status last verified
- 29 Sep 2026
- First submitted
- 14 Jan 2023
- Last updated
- 1 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 32022466Alter 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.
PubMed 29051281