Clinical Trials and Research Opportunities

How to find & understand clinical trials

New treatments and therapies for people with Fanconi anemia are not possible without research. Listed below are current clinical trials and research opportunities available. Visit the links listed to learn more about eligibility and protocol descriptions. If you’re interested in participating in a clinical trial, scholarships are available from FARF in order to help offset the cost of transportation and housing. Please contact us at .(JavaScript must be enabled to view this email address) or 541-687-4658.

We are proud to partner with the Be The Match Jason Carter Clinical Trials Search & Support (CTSS), an organization that helps individuals learn about and potentially participate in clinical trials.​ Click the logo to view more information about FA clinical trials. Work with a patient navigator to help you understand a trial you may be interested in, and how trials work in general.

Pre Stem Cell Transplant Trials: ​Individuals with FA who have stable blood counts

Gene Therapy for Fanconi Anemia, Complementation Group A

Stanford University, Stanford, United States | Active; currently recruiting participants

Participants must have a diagnosis of Fanconi anemia, subtype A (FA-A), ages one year and older, weighing 8kg or more, without a medically eligible HLA-identical sibling donor. More information on blood count ranges to be eligible for the study as well as exclusion criteria available in study information.

The objective of this study is to assess the therapeutic efficacy of hematopoietic cell-based gene therapy for patients with Fanconi anemia, subtype A (FA-A). Hematopoietic stem cells from mobilized peripheral blood of patients with FA-A will be transduced ex vivo (outside the body) with a lentiviral vector carrying the FANCA gene. After transduction, the corrected stem cells will be infused intravenously back to the patient with the goal of preventing bone marrow failure.

Contact: Elisabeth Merkel | .(JavaScript must be enabled to view this email address) | Learn more

Pre Stem Cell Transplant Trials: Individuals with FA in need of (progressing toward) stem cell transplant

Antibody-Based Conditioning with TCRab T-cell/CD19 B-cell Depleted Allogeneic Transplantation for Fanconi Anemia Patients with Cytopenias

Stanford University, Stanford, CA | Active, currently recruiting participants

Open to Fanconi anemia patients of all subtypes, ages 2+, who have developed cytopenias and do not have 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 an antibody-drug instead of radiation/chemotherapy to make transplants safer. To prevent rejection of the donor cells, prior to BMT, patients will be treated with standard immune suppression and an antibody-drug, JSP191, in place of genotoxic irradiation or busulfan treatment. Blood stem cells are collected from healthy donors and purified to remove problematic T-cells. These healthy stem cells are then given to the patient by intravenous infusion.

Contact: Bone Marrow Failure Program Team | 650-497-8953 | .(JavaScript must be enabled to view this email address) | Learn more

Quercetin in Children with Fanconi Anemia; a Pilot Study

Children’s Hospital Medical Center, Cincinnati, OH | currently recruiting participants

Available to Fanconi anemia patients of all ages who are able to take enteral medication. See study information below for exclusion criteria.

This is a pilot study aiming to assess feasibility, toxicity and pharmacokinetics of oral quercetin (a dietary supplement) therapy in patients with FA and is a first step towards a clinical study of the efficacy of quercetin therapy in delaying progression of bone marrow failure in FA..

Contact: Stephanie Edwards | 513-636-9292 | .(JavaScript must be enabled to view this email address) | Learn more

Eltrombopag for People with Fanconi Anemia

National Heart, Lung, and Blood Institute (NHLBI), Bethesda, MD | currently recruiting

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

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: Evette N Barranta | 301-827-4421 | .(JavaScript must be enabled to view this email address) | Learn more

Cancer trials: surveillance and early intervention

Reducing the Burden of Squamous Cell Carcinoma in Fanconi Anemia

Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany | Currently recruiting participants

Open to individuals with Fanconia anemia, ages 15 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, FARF Clinical Science Program Manager | 541-687-4658 | .(JavaScript must be enabled to view this email address)

Learn about the trial to prevent oral cancers

Cancer trials: chemoprevention

Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients with FA

Cincinnati Children’s Hospital Medical Center, Cincinnati, OH | currently recruiting participants

Available to Fanconi anemia patients ages 2 years and older, who are able to take enteral medication, see study information for exclusion criteria.

In the lab, quercetin, a natural antioxidant, kills tumor cells in FA head and neck squamous cell carcinoma (SCC) cell lines and also prevents development of SCC tumors in non-FA mice. Based on these strong and promising data this study will look at the beneficial effects of oral quercetin treatment for 2 years, in post-transplant patients with FA. It is hoped that treatment with quercetin will result in decreased oxidative stress and ongoing DNA damage of the mucosa, leading to the prevention of, or at least delay the development of squamous cell carcinoma.

Contact: Stephanie Edwards | 513-636-9292 | .(JavaScript must be enabled to view this email address) | Learn more

Registry-based trials

Fanconi Anemia Registry

Fanconi Anemia Research Fund | currently recruiting participants

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 | .(JavaScript must be enabled to view this email address)

Cancer in Inherited Bone Marrow Failure Syndromes

National Cancer Institute (NCI), Bethesda, MD | currently recruiting participants

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: Blanche P. Alter | 240-276-7239 | .(JavaScript must be enabled to view this email address) | Learn more

Natural History of FANCD1/BRCA2

National Cancer Institute (NCI), Bethesda, MD | currently recruiting participants

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 .(JavaScript must be enabled to view this email address) | Learn more

International Fanconi Anemia Registry (IFAR)

The Rockefeller University, New York, NY | currently recruiting participants

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 | .(JavaScript must be enabled to view this email address) | Learn more

​Other FA Systems

Nutrition & Metabolism in Fanconi Anemia

Cincinnati Children’s Hospital Medical Center, Cincinnati, OH

This study is actively recruiting and consenting participants with an anticipated start date in late June/early July. Participants must be 12+ years of age and those with diabetes or need for insulin are ineligible for the study. This clinical trial uses tracing experiments to show how efficiently and effectively individuals with FA are able to utilize glucose versus fat and protein for energy. Studies have shown that individuals with FA break down fat and muscle at a quick rate, making it difficult for them to maintain weight or build muscle. Studies have also shown that individuals have low levels of Carnitine, known to combat DNA damage. Poorly functioning metabolic systems influence physical appearance, immune function, host defense, and brain energy. Also to be considered are the equally significant impacts on the psychological, social, and emotional wellbeing of individuals with these metabolic challenges. The results obtained from this trial could lead to treatment options that combat body mass index issues, including those pertaining to muscle mass, and could positively impact the general psychological and emotional resilience and wellbeing of the FA population.

Contact: Lindsey Romick-Rosendale | 513-517-0256 | .(JavaScript must be enabled to view this email address) | Learn more

Trial vs. Treatment

It is critical to understand the difference between medical treatments and clinical trials. A medical treatment is a regimen specific to an individual patient and his/her condition, administered by doctors. A trial tests a potential drug, procedure, or medical device in people. Participants in trials play an integral role in determining the safety and efficacy of drugs or procedures. It is important to remember that clinical trials are meant for research, not to administer proven medical care.

Even though a medication may be approved for one condition or disease, it must be tested in the new population it is meant to help. It’s vital to conduct research in many people, because people may respond differently to the same treatment. Self-treatment with medications that have not been approved for a specific population/condition can be harmful to the individual; it may also hinder knowledge of the appropriate therapeutic use and benefit(s) of the medication. Always consult your physician before taking any action regarding medications or treatments.