Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia

April 6, 2024 updated by: National Cancer Institute (NCI)

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....

Study Overview

Status

Recruiting

Conditions

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:

  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.

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

Study Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • Recruiting
        • National Institutes of Health Clinical Center
        • Contact:
          • For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
          • Phone Number: 888-624-1937

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

8 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

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.

Description

  • INCLUSION CRITERIA:

    1. 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.
    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:

  1. Referred individuals for whom reported diagnosis of FA cannot be verified.
  2. Inability of the individual, parent, LAR, or legal guardian to understand and be willing to sign a written informed consent document.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Screen Patients with FA
Time Frame: ongoing
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
Time Frame: ongoing
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
Time Frame: ongoing
A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)
ongoing

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Cancer Institute (NCI)

Investigators

  • Principal Investigator: Neelam Giri, M.D., National Cancer Institute (NCI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 23, 2023

Primary Completion (Estimated)

December 31, 2035

Study Completion (Estimated)

December 31, 2035

Study Registration Dates

First Submitted

January 14, 2023

First Submitted That Met QC Criteria

January 17, 2023

First Posted (Actual)

January 18, 2023

Study Record Updates

Last Update Posted (Actual)

April 9, 2024

Last Update Submitted That Met QC Criteria

April 6, 2024

Last Verified

April 3, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 10001109
  • 001109-C

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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