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Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia

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ClinicalTrials.gov Identifier: NCT05687149
Recruitment Status : Recruiting
First Posted : January 18, 2023
Last Update Posted : March 27, 2023
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Study Description
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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 months....


Condition or disease
Fanconi Anemia Inherited Bone Marrow Failure Syndrome

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 Design
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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Estimated Study Start Date : March 30, 2023
Estimated Primary Completion Date : December 31, 2035
Estimated Study Completion Date : December 31, 2035

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Anemia

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


Outcome Measures
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Primary Outcome Measures :
  1. Screen Patients with FA [ Time Frame: ongoing ]
    Prospectively screen individuals with FA for early indicators for the development of esophageal and anogenital SCC.

  2. 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.

  3. 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)


Eligibility Criteria
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Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
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.
Criteria

  • 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 USA on their own.
    4. Ability to understand and/or the willingness of the individual, parent, or 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, or legal guardian to understand and be willing to sign a written informed consent document.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05687149


Contacts
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Contact: NCI Family Study Referrals (800) 518-8474 ncifamilystudyreferrals@mail.nih.gov
Contact: Neelam Giri, M.D. (240) 276-7256 girin@mail.nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    888-624-1937      
Sponsors and Collaborators
National Cancer Institute (NCI)
Investigators
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Principal Investigator: Neelam Giri, M.D. National Cancer Institute (NCI)
More Information
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Additional Information:

Publications:

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Responsible Party: National Cancer Institute (NCI)
ClinicalTrials.gov Identifier: NCT05687149    
Other Study ID Numbers: 10001109
001109-C
First Posted: January 18, 2023    Key Record Dates
Last Update Posted: March 27, 2023
Last Verified: March 3, 2023

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Hereditary
Inherited Bone Marrow Failure Syndrome
Oral Potentially Malignant Lesion
Surveillance
Precancer
Additional relevant MeSH terms:
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Carcinoma, Squamous Cell
Fanconi Syndrome
Anemia
Fanconi Anemia
Bone Marrow Failure Disorders
Pancytopenia
Congenital Bone Marrow Failure Syndromes
Carcinoma
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neoplasms
Neoplasms, Squamous Cell
 Hematologic Diseases
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Bone Marrow Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Infant, Newborn, Diseases