Protocol Details
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
This study is currently recruiting participants.
Summary
Number | 001109-C |
Sponsoring Institute | National Cancer Institute (NCI) |
Recruitment Detail | Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 8 Years
Max Age: 90 Years |
Referral Letter Required | No |
Population Exclusion(s) | Non-English Speaking |
Keywords | Hereditary;
Inherited Bone Marrow Failure Syndrome;
Oral Potentially Malignant Lesion;
Surveillance;
Precancer |
Recruitment Keyword(s) | None |
Condition(s) | Fanconi Anemia;
Inherited Bone Marrow Failure Syndrome |
Investigational Drug(s) | None |
Investigational Device(s) | None |
Intervention(s) | None |
Supporting Site | National Cancer Institute |
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.
Eligibility
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.
Citations:
Velleuer E, Dietrich R, Pomjanski N, de Santana Almeida Araujo IK, Silva de Araujo BE, Sroka I, Biesterfeld S, B(SqrRoot)(Delta)cking 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: 32022466. 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. PMID: 29051281; PMCID: PMC5777188.
Contacts:
Clinical Trials Number:
NCT05687149Protocol Details
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
This study is currently recruiting participants.
Summary
Number | 001109-C |
Sponsoring Institute | National Cancer Institute (NCI) |
Recruitment Detail | Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 8 Years
Max Age: 90 Years |
Referral Letter Required | No |
Population Exclusion(s) | Non-English Speaking |
Keywords | Hereditary;
Inherited Bone Marrow Failure Syndrome;
Oral Potentially Malignant Lesion;
Surveillance;
Precancer |
Recruitment Keyword(s) | None |
Condition(s) | Fanconi Anemia;
Inherited Bone Marrow Failure Syndrome |
Investigational Drug(s) | None |
Investigational Device(s) | None |
Intervention(s) | None |
Supporting Site | National Cancer Institute |
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.
Eligibility
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.
Citations:
Velleuer E, Dietrich R, Pomjanski N, de Santana Almeida Araujo IK, Silva de Araujo BE, Sroka I, Biesterfeld S, B(SqrRoot)(Delta)cking 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: 32022466. 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. PMID: 29051281; PMCID: PMC5777188.
Contacts:
Clinical Trials Number:
NCT05687149