Open to all individuals with FA 12 years and older. Individuals with FA 8-12 years of age who have a history of persistent visible oral lesions, recent onset swallowing difficulty, or other concerning symptoms are also eligible.

This study aims to provide oral mouth inspection and brush biopsy screening combined with comprehensive cancer screening for people with FA at regular intervals to determine if this practice improves early cancer diagnosis and overall clinical care. Participants will be screened for esophageal, gynecological, anal, and skin cancers. Brush biopsy of persistent oral lesions for diagnostic cytology and DNA cytometry will also be completed.

Contact: Neelam Giri, M.D.| (240) 276-7256 | girin@mail.nih.gov

Open to individuals with Fanconia anemia, ages 14 years and older.

Due to limited cancer treatment options for individuals with FA, there is an urgent need to develop early surveillance and screening modalities to reduce the burden of advanced disease. This research project will focus on non-invasive oral brush biopsy technology, with combined cytologic evaluation, being implemented as an early detection screening tool. This program will be available for medical professionals who will perform brush biopsy screening for people with FA. Educational programs focused on early surveillance will also be developed to empower individuals with FA to manage their own care in adulthood. Collaborative molecular research projects will focus on the analysis of clinical biological materials collected from the study to develop an understanding of the natural history of squamous cell cancers in individuals with FA. Clinical patient data will be incorporated into a digital platform and analyzed to identify potential cancer-promoting risk factors in the FA population.

Contact: Andrea Ronan, FCF Engagement and Advocacy Program Manager | 541-687-4658 | andrea@fanconi.org

This study aims to better understand how acetaldehyde may increase the risk of oral cancer. Acetaldehyde is a chemical present in the environment and in many foods and drinks. It’s also formed when the body breaks down alcohol.

Research has shown that people who cannot break down acetaldehyde well are at increased risk of developing oral cancer. People with FA who lack the ability to repair the DNA damage formed by acetaldehyde are at even higher risk. This study will measure acetaldehyde and DNA damage levels in the mouth to better understand how this chemical may contribute to cancer formation. This work will ultimately help us identify safe exposure levels and improve cancer prevention strategies.

This study is looking for:

• People with FA (at least 18 years old) who do not drink any alcohol to attend a single study visit to provide saliva, mouthrinse, and cheek brushing. The visit will last about 1 hour. Participants will receive $20 for their time.

OR

• People with FA (at least 21 years old) who have had at least one drink of alcohol in the last 3 months to attend a single 7-hour visit where saliva, mouth rinse, and cheek brushings will be collected before and after drinking a specific dose of alcohol (about 1 standard drink). Participants will receive $200 for their time. Due to the long study visit, it is possible to also be reimbursed up to $200 to help cover an extra night’s hotel stay.

Contact: Sydney Prince |  (612) 393-8967  | Michael Sausen or Danny Park |  (612) 625-2786  | alcohol-study@umn.edu 

FP-045, an aldehyde dehydrogenase (ALDH2) activator, may be a valuable treatment for individuals in the initial stages of bone marrow failure, which is one of the most common complications of FA. Foresee Pharmaceuticals is looking for 14 to 18 adolescents and young adults with FA to participate in a study evaluating the safety and tolerability of FP-045 in individuals with FA. Participants must have mild to moderate bone marrow failure and have no prior history of a bone marrow transplant.

Contact: Bassem Elmankabadi, MD | 562-310-8718 | Bassem.elmankabadi@foreseepharma.com

Available to individuals ages one month to 60 years old who are deemed eligible for allogeneic Hematopoietic Stem Cell Transplant (HSCT) per institutional guidelines. See study information for additional inclusion and exclusion criteria.

In this study, the participant will undergo a stem cell transplant using donor cells that have been manipulated through an investigational device (CliniMACS® TCRαβ-Biotin System and CliniMACS® CD19). The purpose of the study is to improve the safety and efficacy of allogeneic HLA-partially matched related or unrelated donor HSCT when no matched donors are available. Participants will be followed for outcomes for two years.

Contact: Alice Bertaina | scgt_clinical_trials_office@lists.stanford.edu

Open to individuals who are either scheduled to receive or have completed a Hematopoietic Stem Cell Transplant (HSCT). Those with HSCT completed at another institution other than Lucile Packard Children’s Hospital (LPCH) are eligible although follow-up long-term care must be transferred to LPCH. Participants will be seen thorough the late-effects clinic in the Pediatric HSCT Clinic. Participants who have relapsed from a malignant diagnosis post HSCT and are not being worked-up for a new HSCT are not eligible.

The goal of the study is to establish systematic follow-up care for HSCT recipients by collecting data and tissue samples and creating a comprehensive database to demonstrate survivor’s clinical status through their life span.

Contact: Nivedita A Kunte | 650-497-2038 | nkunte@stanford.edu

Eligibility includes people with Fanconi anemia, ages 2 years or older, weighing greater than 10kg. This study is for individuals with reduced blood cell counts defined as clinically-significant cytopenias. See study information for details regarding cytopenias as well as exclusion criteria.

This study is open to US participants only at this time.

Based on clinical and pre-clinical studies, the team hypothesizes that Eltrombopag (EPAG) will improve peripheral blood cell counts in patients with FA, thus positively affect morbidity and mortality. Of particular interest for patients with FA is the observation that EPAG also improves the repair of double strand DNA breaks, a mechanism that is impaired in patients with FA. The objective of this study is to determine if EPAG is effective in FA patients and the length of treatment needed to improve blood counts.

Contact: Bretagne Cowling | 240-550-3587 | bretagne.cowling@nih.gov

Open to Fanconi anemia patients of all subtypes, ages 2+. Eligibility includes having developed cytopenias (reduced blood cell counts) and not having an HLA-identical matched sibling donor for bone marrow transplant (BMT). Patient must not be on other experimental therapies at the time and not have active cancers or concerns for high-risk bone marrow disease.

The objective of the study is to prepare the patient’s body before a stem cell transplant by using a reduced-intensity conditioning regimen instead of radiation/busulfan chemotherapy to make transplants safer. To prevent rejection of the donor cells, prior to BMT, patients will be treated with standard immune suppression containing rabbit anti-thymoglobulin (rATG), cyclophosphamide, fludarabine and rituximab with (Group A) and without (Group B) an antibody-drug, Briquilimab/JSP191, in place of genotoxic irradiation or busulfan treatment which is used in most standard-of-care non-HLA matched sibling donor transplants for FA. Blood stem cells are collected from healthy donors and purified to remove problematic T-cells through a process called TCRαβ⁺ T-cell/CD19⁺ B-cell depletion. These healthy stem cells are then given to the patient by intravenous infusion and have been shown to enable blood and immune reconstitution in various treatment settings enabling cure of the hematopoietic aspects of FA disease.

The study has 2 arms:

1. Group A: (Completed enrollment)
   Reduced intensity conditioning (NO RADIATION or BUSULFAN) with Briquilimab (JSP191), rATG, Fludarabine, Cyclophosphamide and Rituximab
2. Group B: (Open to enrollment)        Reduced intensity conditioning (NO RADIATION, BUSULFAN, or BRIQUILIMAB (JSP191)) with rATG, Fludarabine, Cyclophosphamide and Rituximab

Contact: Dr. Rajni Agarwal | rajnia@stanford.edu 

Bone Marrow Failure Program Team | 650-497-8953 | bmf@stanfordchildrens.org scgt_clinical_trials_office@lists.stanford.edu

Fanconi Anemia (FA) is a genetic disorder known to shorten the lifespans of those diagnosed due to inherited chromosomal fragility that leads to hematopoietic failure (cytopenia, aplastic anemia, myelodysplasia, or leukemia), increased cancer risk, and other possible rare organ dysfunction such as congenital structural anomalies. Importantly, 80-90% of FA patients develop bone marrow failure (BMF) by 12 years of age.

This is a phase I/II clinical trial to investigate the safety and efficacy of performing in utero hematopoietic stem cell transplantation (IUHSCT) for fetuses diagnosed with FA during pregnancy. The investigators aim to recruit twelve participants with a prenatal diagnosis of FA. Participants will undergo bone marrow harvest followed by an ultrasound guided in utero infusion of maternal stem cells. Transplanting maternal cells into the fetus takes advantage of the immature fetal immune system and existing maternal-fetal tolerance during pregnancy to enable stem transplantation without use of any conditioning or immunosuppression.

The investigators intend to demonstrate that it is safe and effective to perform IUHSCT in fetuses diagnosed with FA. Additionally, the investigators want to demonstrate postnatal chimerism of maternal cells and correction of the DNA-repair deficiency in the blood and bone marrow. This procedure hopes to prevent the need for a future bone marrow transplant later in life, or if one remains necessary then it hopes that conditioning and immune suppression will not be required when using maternal stem cells due to persistant maternal tolerance.

Eligibility Criteria includes:

• Male or female fetuses from 19^0/7 – 28^0/7 weeks gestational age at time of transplant.
• Diagnosed with FA by either chorionic villus sampling (CVS), or amniocentesis, or cordocentesis with abnormal fetal chromosomal breakage studies and/or FANC gene mutations when combined with at least one of the following: 1) abnormal chromosomal breakage result consistent with an FA diagnosis, 2) family history of a 1st degree relative with confirmed FA, or 3) congenital anomalies consistent with the diagnosis of FA on fetal ultrasound.
• Parents must consent to fetal autopsy in the event of a fetal demise.
• Adequate bone marrow harvest from maternal participant is a condition for inclusion.

Contact: Agnieszka Czechowicz, MD, PhD | 650-497-2218 | bmf@stanfordchildrens.org

Yair Blumenfeld, MD | 650-725-5720 | mfmresearch@stanford.edu

Open to all individuals with Fanconi Anemia.

The Fanconi Anemia Registry is a participant-driven resource that can empower and unite the FA community through shared knowledge. Registry participants can complete surveys about their own disease experiences. Through the registry we can track cancer cases in individuals with FA as well as treatments. It also helps to develop a communications registry within the Fanconi Anemia registry which can be used to notify patients of research studies and clinical trials. The overarching goal is to assist the FA community with the development of recommendations and standards of care and to be a resource for researchers interested in FA.

Contact: Andrea Ronan | 541-687-4658 | andrea@fanconi.org

Open to all Fanconi anemia patients, their first-degree relatives defined as siblings (half or full), biologic parents, and children, and grandparents.

This is a study to provide information regarding cancer rates and types in inherited bone marrow failure syndromes (IBMFS), including Fanconi anemia. It is a natural history study, with questionnaires, clinical evaluations, clinical and research laboratory tests, review of medical records, and cancer surveillance.

Contact: Neelam Giri | | 240-276-7256 | girin@mail.nih.gov

This is a subgroup within the National Cancer Institute Cancer in Inherited Bone Marrow Failure Syndromes, listed above. It has been previously determined that published cases with two mutated FANCD1/BRCA2 genes appeared to have a very high risk of cancer before age 6. We are now aware of individuals with these mutations who are much older and have not had cancer. This subgroup was created in order to determine the natural history of patients with FA associated with mutations in FANCD1/BRCA2.

Contact IBMFS Study Team | 1-800-518-8474, or email NCI.IBMFS@westat.com

Open to all individuals with Fanconi anemia. Enrollment required for tissue donation through The Rockefeller University.

The purpose of the IFAR is to study the nature, diagnosis, and treatment of individuals with FA. Information collected in this study will help researchers better understand FA and be able to better diagnose and treat the condition. We enroll patients at any stage of the disease but many recent studies are focusing on understanding cancer development in FA patients. Please reach out if you have been diagnosed with cancer or pre-cancer lesions.

Contact: Agata Smogorzewska | 212-327-8612 | fanconiregistry@rockefeller.edu

Please contact our team if you have been diagnosed with FANS or are experiencing symptoms. We will connect you with the researchers and clinicians leading these studies.