Understanding Squamous Cell Carcinoma in People with Fanconi Anemia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to define the natural history of squamous cell carcinoma (SCC) in individuals with Fanconi anemia (FA) by conducting regular screenings. Participants aged 12 years and older, or 8 to 11 years with specific symptoms, will undergo comprehensive evaluations, including physical exams, biospecimen collection, and mapping of oral lesions. The study will focus on identifying early indicators of cancer development and understanding the underlying mechanisms of tumorigenesis in this high-risk population. By gathering detailed clinical and pathological data, the study seeks to improve early detection and management of SCC in individuals with FA.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Lisa J McReynolds, M.D. — National Cancer Institute (NCI)
• Study coordinator: NCI Family Study Referrals
• Email: ncifamilystudyreferrals@mail.nih.gov
• Phone: (800) 518-8474

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Understanding congenital bone marrow failure and related disorders through a national network

  This project tests whether people with rare inherited bone marrow failure syndromes or related conditions really have the underlying genetic causes, by collecting data and samples across multiple centers.

  Recruiting at 4 sites Istituto Giannina Gaslini · Avellino and 3 other locations · NCT07877727

• Safe use of metformin and naproxen to help prevent cancer in people with Fanconi anemia

  This study tests whether metformin and naproxen can lower the chance of cancer developing in adults with Fanconi anemia.

  Recruiting at 2 sites Phase 1 Rockefeller University · Minneapolis, Minnesota and 1 other locations · NCT07901959

• MRI-based noninvasive detection and monitoring of oral lesions in people with Fanconi anemia

  This study tests whether MRI and dedicated dental MRI can help detect and track potential oral cancers or precancers in people with Fanconi anemia without surgery or biopsy.

  Recruiting University of Minnesota · Minneapolis, Minnesota · NCT07649031

• Using Afatinib to treat patients with Fanconi Anemia and advanced head and neck cancer

  This study is testing if Afatinib can help people with advanced head and neck cancer who also have Fanconi Anemia feel better and improve their condition.

  Recruiting at 2 sites Phase 1/2 Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau · Hanover and 1 other locations · NCT06648096

• Using imatinib to enhance RUNX1 activity in patients with RUNX1 mutations

  This study is testing if the medication imatinib can help people with RUNX1 mutations feel better and improve their bone marrow function.

  Recruiting Phase 1 National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT06090669

• Investigating how acetaldehyde contributes to oral cancer development

  This study is trying to see how drinking alcohol affects the development of oral cancer in healthy people and those with Fanconi anemia by looking at samples like saliva and urine.

  Recruiting Masonic Cancer Center, University of Minnesota · Minneapolis, Minnesota · NCT05973656

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.