This study is currently recruiting participants.
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: N/A
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)
Investigational Device(s)
Intervention(s)
Supporting Site
National Cancer Institute
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.
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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.
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.
Principal Investigator
Referral Contact
For more information: