Recruiting

Observational Study

Sponsor:

National Cancer Institute (NCI)

Code:

NCT05687149

Conditions

Fanconi Anemia

Inherited Bone Marrow Failure Syndrome

Eligibility Criteria

Sex: All

Age: 8 - 70+

Healthy Volunteers: Not accepted

Study Details

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 - 8 months....

Conditions

Fanconi Anemia

Inherited Bone Marrow Failure Syndrome

Study ID

NCT05687149

Start date

Mar 23, 2023

Status verified date

Aug 27, 2026

Completion date

Dec 31, 2035

Anticipated

Primary completion date

Dec 31, 2035

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 8 - 70+

Healthy Volunteers: Not accepted

  • 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.

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Arms

Fanconi anemia

A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)

Primary outcome measure

  • Screen Patients with FA [ Time Frame: ongoing ]
  • Clinical and Pathological Natural History of Oral Potentially Malignant Lesion [ Time Frame: ongoing ]
  • Cohort of Patients with FA [ Time Frame: ongoing ]

Central Contacts and Locations

Central contacts

NCI Family Study Referrals

(800) 518-8474ncifamilystudyreferrals@mail.nih.gov

Lisa J McReynolds, M.D.

(240) 276-5047mcreynoldslj@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact National Cancer Institute Referral Office

888-624-1937

More Information

Sponsor

National Cancer Institute (NCI)

Last update posted

Aug 31, 2026

Last verified

Aug 27, 2026

Keywords

  • Hereditary
  • Inherited Bone Marrow Failure Syndrome
  • Oral Potentially Malignant Lesion
  • Surveillance
  • Precancer

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Cancer Institute (NCI) on 2026-08-31.