[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT05687149":3,"trial-entities:NCT05687149":94,"trial-summary:NCT05687149":97},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":20,"study_type":25,"primary_purpose":14,"phases":26,"enrollment_info":27,"interventions":30,"primary_outcomes":31,"secondary_outcomes":42,"sex":43,"minimum_age":44,"maximum_age":45,"healthy_volunteers":46,"eligibility_criteria":47,"std_ages":51,"locations":55,"central_contacts":70,"overall_officials":79,"references":82,"see_also_links":90},"NCT05687149","10001109","Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia","RECRUITING","2035-12-31","2026-08-27","2026-08-31","2023-03-23","National Cancer Institute (NCI)","NIH",null,"Background:\n\nFanconi 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.\n\nObjective:\n\nThis natural history study will regularly screen people with FA for SCC.\n\nEligibility:\n\nPeople aged 12 years and older with FA or a prior cancer diagnosis. Children aged 8 to 11 years with FA may also be eligible.\n\nDesign:\n\nParticipants will receive a comprehensive screening for cancer or early signs of cancer.\n\nParticipants 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.\n\nParticipants will have pictures taken of their mouth. Any mouth sores will be mapped. Cells will be collected from the sores with a small brush.\n\nSpecialists will examine the participant s ears, nose, throat, teeth, and skin.\n\nAdult 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.\n\nParticipants may have a liver ultrasound. A wand will be pressed against their belly to get pictures of the organs inside the body.\n\nParticipants 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 Description:\n\nThis 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.\n\nObjectives:\n\nPrimary Objectives:\n\n1. 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.\n2. 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.\n3. To prospectively screen individuals with FA for early indicators for the development of esophageal and anogenital SCC and hematological malignancy.\n\nSecondary Objectives:\n\n1. To identify genetic, epigenetic, and immunologic mechanisms underlying tumorigenesis and immune escape in individuals with FA.\n2. To facilitate the enrollment of individuals with FA with high-grade dysplasia or SCC in intra- and extra-mural precision intervention trials.\n\nEndpoints:\n\nPrimary Endpoints:\n\n1. Characterize the natural history of OPMLs in FA, rates of progression, regression, and development of new lesions\n2. Determine the utility of brush biopsy to identify oral dysplasia and SCC in FA\n3. Identify potential precursor states for esophageal and anogenital cancers in FA\n4. Develop screening guidelines for esophageal and anogenital cancer in FA\n\nSecondary Endpoints:\n\n1. Identify predictive biomarkers of oral SCC development\n2. Characterize genetic and epigenetic changes that lead to SCC development\n3. Facilitate patient enrollment in intervention trials",[18,19],"Fanconi Anemia","Inherited Bone Marrow Failure Syndrome",[21,19,22,23,24],"Hereditary","Oral Potentially Malignant Lesion","Surveillance","Precancer","OBSERVATIONAL",[],{"count":28,"type":29},200,"ESTIMATED",[],[32,36,39],{"measure":33,"description":34,"timeFrame":35},"Screen Patients with FA","Prospectively screen individuals with FA for early indicators for the development of esophageal and anogenital SCC.","ongoing",{"measure":37,"description":38,"timeFrame":35},"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.",{"measure":40,"description":41,"timeFrame":35},"Cohort of Patients with FA","A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)",[],"ALL","8 Years","90 Years",false,{"inclusion":48,"exclusion":49,"raw_text":50},[],[],"* INCLUSION CRITERIA:\n\n  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.\n  2. Individuals with prior cancer diagnosis are eligible.\n  3. Individuals from other countries are eligible provided they can travel to the USA on their own.\n  4. Ability to understand and\u002For the willingness of the individual, parent, LAR, or minor s legal guardian to provide informed consent.\n\nEXCLUSION CRITERIA:\n\n1. Referred individuals for whom reported diagnosis of FA cannot be verified.\n2. Inability of the individual, parent, LAR, or legal guardian to understand and be willing to sign a written informed consent document.",[52,53,54],"CHILD","ADULT","OLDER_ADULT",[56],{"facility":57,"status":7,"city":58,"state":59,"zip":60,"country":61,"contacts":62,"geoPoint":67},"National Institutes of Health Clinical Center","Bethesda","Maryland","20892","United States",[63],{"name":64,"role":65,"phone":66},"For more information at the NIH Clinical Center contact National Cancer Institute Referral Office","CONTACT","888-624-1937",{"lat":68,"lon":69},38.98067,-77.10026,[71,75],{"name":72,"role":65,"phone":73,"email":74},"NCI Family Study Referrals","(800) 518-8474","ncifamilystudyreferrals@mail.nih.gov",{"name":76,"role":65,"phone":77,"email":78},"Lisa J McReynolds, M.D.","(240) 276-5047","mcreynoldslj@mail.nih.gov",[80],{"name":76,"affiliation":12,"role":81},"PRINCIPAL_INVESTIGATOR",[83,87],{"pmid":84,"type":85,"citation":86},"32022466","BACKGROUND","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\u002Fcncy.22249. Epub 2020 Feb 5.",{"pmid":88,"type":85,"citation":89},"29051281","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\u002Fhaematol.2017.178111. Epub 2017 Oct 19.",[91],{"label":92,"url":93},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?A_001109-C.html",{"nct_id":4,"conditions":95,"biomarkers":96},[18,22],[],{"nct_id":4,"found":98,"summary":99,"prompt_version":109},true,{"design":100,"status":101,"heading":102,"summary":103,"follow_up":104,"word_count":105,"commitments":106,"compensation":107,"drugs_mentioned":108},"This is an observational study planning to enroll 200 participants. It involves comprehensive screening for cancer or early signs of cancer.","completed","Understanding Squamous Cell Carcinoma in Fanconi Anemia","This study is looking at how squamous cell carcinoma (SCC), a type of cancer, develops in people with Fanconi Anemia (FA), an inherited disorder. People with FA are at higher risk for SCC, especially in the mouth, esophagus, and genital areas. This observational study aims to regularly screen individuals with FA to better understand the natural history of these cancers and early signs of cancer. The study is open to people with FA aged 12 and older, and some children aged 8-11 with specific symptoms. Researchers will collect information through questionnaires, physical exams, blood and saliva samples, and by reviewing medical records. The goal is to improve early detection of SCC in people with FA.","The study measures outcomes like screening patients with FA and the natural history of oral lesions on an ongoing basis.",115,"Participants will have a physical exam and provide blood and saliva samples. They will also complete questionnaires and undergo clinical and research evaluations.","Not stated in the trial record.",[],"v2"]